Variant report

Variant	esv3331607
Chromosome Location	chr6:43734924-43742622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1960)
CpG islands
(count:854)
Chromatin interactive
region (count:88)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:43739729-43739775	K562	blood:	n/a	n/a
2	ARID3A	chr6:43737833-43738353	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:43742605-43742630	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:43737902-43738200	K562	blood:	n/a	n/a
5	ARID3A	chr6:43739199-43739200	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:43737183-43737573	HepG2	liver:	n/a	n/a
7	ATF2	chr6:43740916-43741283	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr6:43737248-43737728	GM12878	blood:	n/a	n/a
9	ATF2	chr6:43737800-43738108	GM12878	blood:	n/a	n/a
10	ATF2	chr6:43739468-43739763	GM12878	blood:	n/a	n/a
11	ATF2	chr6:43742412-43742866	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr6:43738956-43739263	GM12878	blood:	n/a	n/a
13	ATF3	chr6:43739545-43739931	K562	blood:	n/a	n/a
14	ATF3	chr6:43739567-43739864	K562	blood:	n/a	n/a
15	BACH1	chr6:43738110-43738310	K562	blood:	n/a	n/a
16	BACH1	chr6:43737304-43737671	K562	blood:	n/a	n/a
17	BACH1	chr6:43737269-43737858	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr6:43740263-43740525	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr6:43738639-43739579	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr6:43739094-43739273	K562	blood:	n/a	n/a
21	BACH1	chr6:43739844-43740189	K562	blood:	n/a	n/a
22	BACH1	chr6:43742493-43742848	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr6:43737711-43738069	GM12878	blood:	n/a	chr6:43737768-43737781
24	BCL3	chr6:43739075-43739451	GM12878	blood:	n/a	n/a
25	BCLAF1	chr6:43737624-43738156	GM12878	blood:	n/a	chr6:43737768-43737781
26	BCLAF1	chr6:43738933-43739405	GM12878	blood:	n/a	chr6:43739065-43739078 chr6:43739068-43739081
27	BCLAF1	chr6:43737166-43737796	GM12878	blood:	n/a	chr6:43737768-43737781
28	BCLAF1	chr6:43738791-43739513	GM12878	blood:	n/a	chr6:43739065-43739078 chr6:43739068-43739081
29	BCLAF1	chr6:43737199-43737555	GM12878	blood:	n/a	n/a
30	BHLHE40	chr6:43741105-43741287	K562	blood:	n/a	n/a
31	BHLHE40	chr6:43742546-43742839	GM12878	blood:	n/a	n/a
32	BHLHE40	chr6:43737221-43738474	GM12878	blood:	n/a	n/a
33	BHLHE40	chr6:43737243-43738554	K562	blood:	n/a	n/a
34	BHLHE40	chr6:43739085-43739460	GM12878	blood:	n/a	n/a
35	BHLHE40	chr6:43739318-43739363	K562	blood:	n/a	n/a
36	BHLHE40	chr6:43737191-43738025	HepG2	liver:	n/a	n/a
37	BHLHE40	chr6:43742517-43742809	K562	blood:	n/a	n/a
38	BHLHE40	chr6:43739704-43739887	K562	blood:	n/a	n/a
39	BHLHE40	chr6:43741111-43741322	HepG2	liver:	n/a	n/a
40	BRCA1	chr6:43737255-43738666	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr6:43739715-43739915	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr6:43740539-43740668	HepG2	liver:	n/a	n/a
43	BRCA1	chr6:43740992-43741352	HepG2	liver:	n/a	n/a
44	BRCA1	chr6:43737833-43738032	HepG2	liver:	n/a	n/a
45	BRCA1	chr6:43742561-43742761	GM12878	blood:	n/a	n/a
46	BRCA1	chr6:43739873-43739877	GM12878	blood:	n/a	n/a
47	BRCA1	chr6:43742590-43742772	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr6:43739368-43739502	HepG2	liver:	n/a	n/a
49	CBX3	chr6:43737121-43738574	K562	blood:	n/a	n/a
50	CBX3	chr6:43739143-43740379	K562	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:43737136-43737186	NB4	blood:	n/a
2	chr6:43737555-43737605	HL-60	blood:	n/a
3	chr6:43736973-43737023	K562	blood:	n/a
4	chr6:43737555-43737605	LNCaP	prostate:	n/a
5	chr6:43738026-43738076	GM19239	blood:	n/a
6	chr6:43741054-43741104	U87	brain:	n/a
7	chr6:43738440-43738490	HEK293	kidney:	embryo
8	chr6:43738026-43738076	NHBE	bronchial:	n/a
9	chr6:43737136-43737186	BJ	skin:	n/a
10	chr6:43738440-43738490	HL-60	blood:	n/a
11	chr6:43737136-43737186	AG09309	skin:	n/a
12	chr6:43737770-43737820	ECC-1	luminal epithelium:	n/a
13	chr6:43736807-43736857	BE2_C	brain:	n/a
14	chr6:43737749-43737799	IMR90	lung:	fetal
15	chr6:43737555-43737605	MCF-7	breast:	n/a
16	chr6:43737770-43737820	HNPCEpiC	eye:	n/a
17	chr6:43736807-43736857	GM19239	blood:	n/a
18	chr6:43737136-43737186	PFSK-1	brain:	n/a
19	chr6:43739819-43739869	NHBE	bronchial:	n/a
20	chr6:43739819-43739869	NH-A	brain:	n/a
21	chr6:43738026-43738076	PrEC	prostate:	n/a
22	chr6:43737136-43737186	HCF	heart:	n/a
23	chr6:43737767-43737817	PANC-1	pancreas:	n/a
24	chr6:43737555-43737605	Hela-S3	cervix:	n/a
25	chr6:43736807-43736857	GM12891	blood:	n/a
26	chr6:43737555-43737605	GM19239	blood:	n/a
27	chr6:43739819-43739869	GM19239	blood:	n/a
28	chr6:43737136-43737186	Jurkat	blood:	n/a
29	chr6:43741054-43741104	K562	blood:	n/a
30	chr6:43738026-43738076	BJ	skin:	n/a
31	chr6:43737555-43737605	A549	lung:	n/a
32	chr6:43739059-43739109	Jurkat	blood:	n/a
33	chr6:43737749-43737799	GM06990	blood:	n/a
34	chr6:43737770-43737820	NHDF-neo	bronchial:	n/a
35	chr6:43737770-43737820	HCF	heart:	n/a
36	chr6:43738977-43739027	NH-A	brain:	n/a
37	chr6:43738977-43739027	HCPEpiC	choroid plexus:	n/a
38	chr6:43738440-43738490	HCPEpiC	choroid plexus:	n/a
39	chr6:43737767-43737817	AoSMC	blood vessel:	n/a
40	chr6:43737749-43737799	SK-N-SH_RA	brain:	n/a
41	chr6:43737767-43737817	GM06990	blood:	n/a
42	chr6:43741054-43741104	HCF	heart:	n/a
43	chr6:43737555-43737605	H1-hESC	embryonic stem cell:	embryo
44	chr6:43738440-43738490	BE2_C	brain:	n/a
45	chr6:43736973-43737023	HCM	heart:	n/a
46	chr6:43741054-43741104	AG09309	skin:	n/a
47	chr6:43736807-43736857	HIPEpiC	eye:	n/a
48	chr6:43736807-43736857	BJ	skin:	n/a
49	chr6:43741054-43741104	HRE	kidney:	n/a
50	chr6:43736973-43737023	BE2_C	brain:	n/a

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:43736340..43742918-chr6:44039360..44044949,13	MCF-7	breast:
2	chr6:43592224..43600252-chr6:43737312..43744228,11	MCF-7	breast:
3	chr6:43594889..43598378-chr6:43738091..43741681,4	MCF-7	breast:
4	chr6:43736197..43742093-chr6:44038080..44048969,27	MCF-7	breast:
5	chr6:43742204..43743103-chr6:44041828..44042522,3	K562	blood:
6	chr6:43738039..43738759-chr8:145641815..145642530,2	Hela-S3	cervix:
7	chr3:49066382..49067198-chr6:43737788..43738490,2	HCT-116	colon:
8	chr6:43736933..43737638-chr6:43918040..43918811,2	MCF-7	breast:
9	chr6:43737149..43737880-chr6:44040863..44041890,4	K562	blood:
10	chr10:98346732..98347248-chr6:43737424..43738013,2	NB4	blood:
11	chr6:43595036..43601855-chr6:43735920..43743852,18	K562	blood:
12	chr6:43737558..43739220-chr6:43817395..43820226,2	MCF-7	breast:
13	chr6:43540602..43545091-chr6:43737636..43739851,4	MCF-7	breast:
14	chr2:101618126..101619019-chr6:43737435..43738432,2	Hela-S3	cervix:
15	chr3:145878063..145880102-chr6:43735669..43738313,2	MCF-7	breast:
16	chr6:43736441..43745894-chr6:44037513..44049664,39	K562	blood:
17	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
18	chr6:43737321..43737914-chr6:43803914..43804702,2	K562	blood:
19	chr6:43736949..43737612-chr6:43919103..43919705,2	MCF-7	breast:
20	chr11:62432613..62433305-chr6:43738242..43738785,2	MCF-7	breast:
21	chr6:43738413..43741235-chr6:43967741..43970239,4	K562	blood:
22	chr6:43736583..43737750-chr6:43764938..43766067,5	MCF-7	breast:
23	chr6:43742162..43743417-chr6:44046432..44047565,6	K562	blood:
24	chr20:60962198..60962719-chr6:43737546..43738450,2	NB4	blood:
25	chr1:11968539..11969133-chr6:43739068..43739696,2	Hela-S3	cervix:
26	chr6:43737972..43738858-chr7:27779375..27780262,2	Hela-S3	cervix:
27	chr6:13614758..13615482-chr6:43737724..43738442,2	Hela-S3	cervix:
28	chr6:43704424..43706395-chr6:43735880..43738328,3	K562	blood:
29	chr10:100206389..100207117-chr6:43737622..43738152,2	Hela-S3	cervix:
30	chr6:43654019..43657239-chr6:43735769..43739176,4	K562	blood:
31	chr12:120729544..120730197-chr6:43737793..43738450,2	Hela-S3	cervix:
32	chr6:12008600..12009379-chr6:43737966..43738894,2	Hela-S3	cervix:
33	chr6:43685947..43686711-chr6:43735968..43736865,2	K562	blood:
34	chr12:118454191..118455028-chr6:43737829..43738504,2	Hela-S3	cervix:
35	chr6:43737638..43739422-chr7:75987482..75989449,2	MCF-7	breast:
36	chr6:43734520..43737591-chr6:44223261..44225123,3	K562	blood:
37	chr3:135915262..135916150-chr6:43740983..43741663,2	Hela-S3	cervix:
38	chr5:32174331..32175012-chr6:43738085..43738944,2	Hela-S3	cervix:
39	chr6:43736913..43737850-chr6:44046703..44047208,2	MCF-7	breast:
40	chr6:43594866..43599640-chr6:43736940..43745540,22	K562	blood:
41	chr6:43655438..43657239-chr6:43736539..43739702,4	K562	blood:
42	chr6:43742173..43742914-chr6:43785009..43785735,3	MCF-7	breast:
43	chr6:43737113..43737853-chr6:44046588..44047524,3	MCF-7	breast:
44	chr16:18812450..18813102-chr6:43737686..43738315,2	Hela-S3	cervix:
45	chr6:43735746..43737865-chr6:43933255..43934994,2	MCF-7	breast:
46	chr6:43740118..43741920-chr6:44279572..44281289,2	K562	blood:
47	chr6:43591688..43594576-chr6:43742532..43744832,2	K562	blood:
48	chr6:43737454..43738227-chrX:146992914..146993449,2	HCT-116	colon:
49	chr6:43630657..43632531-chr6:43736089..43737840,2	MCF-7	breast:
50	chr6:26033420..26034983-chr6:43738377..43740879,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSPH9-3	chr6:43737962-43738756	NONHSAT112918

No data

Variant related genes	Relation type
ENSG00000272114	TF binding region
VEGFA	TF binding region
ENSG00000272114	CpG island
VEGFA	CpG island
ENSG00000203362	chromatin interactions
ENSG00000111445	chromatin interactions
ENSG00000170734	chromatin interactions
ENSG00000095951	chromatin interactions
ENSG00000159322	chromatin interactions
ENSG00000135334	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000231881	chromatin interactions
ENSG00000147804	chromatin interactions
ENSG00000229388	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000232112	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000170027	chromatin interactions
ENSG00000229893	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000152952	chromatin interactions
ENSG00000096080	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000237686	chromatin interactions
ENSG00000124688	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000107521	chromatin interactions
ENSG00000272086	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000124608	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000172432	chromatin interactions
ENSG00000223947	chromatin interactions
ENSG00000106052	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000272434	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000181577	chromatin interactions
ENSG00000071082	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000223469	chromatin interactions
ENSG00000137216	chromatin interactions
ENSG00000124571	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000120656	chromatin interactions
ENSG00000236961	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000268066	chromatin interactions
ENSG00000180992	chromatin interactions
ENSG00000164051	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149428649	chr6:43734965-43734966	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs117828773	chr6:43734977-43734978	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs545474514	chr6:43734983-43734984	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs563785206	chr6:43734987-43734988	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs1123448	chr6:43735014-43735015	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543254379	chr6:43735055-43735056	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs561405499	chr6:43735061-43735062	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs541304064	chr6:43735142-43735143	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs833060	chr6:43735149-43735150	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546996462	chr6:43735160-43735161	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs35465679	chr6:43735166-43735167	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs558872735	chr6:43735167-43735168	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs192347548	chr6:43735191-43735192	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs138384935	chr6:43735218-43735219	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs551051806	chr6:43735272-43735273	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs569458636	chr6:43735274-43735275	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs34137120	chr6:43735288-43735289	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs542405507	chr6:43735303-43735304	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs143796651	chr6:43735369-43735370	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs116457709	chr6:43735396-43735397	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs567366346	chr6:43735405-43735406	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs112450030	chr6:43735431-43735432	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552996796	chr6:43735481-43735482	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs578043319	chr6:43735483-43735484	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs539079003	chr6:43735504-43735505	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs35768366	chr6:43735572-43735573	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs557489683	chr6:43735585-43735586	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs184767819	chr6:43735603-43735604	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs533300128	chr6:43735611-43735612	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs28678416	chr6:43735612-43735613	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs542769105	chr6:43735633-43735634	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs561503087	chr6:43735655-43735656	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs373355496	chr6:43735703-43735704	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs188031203	chr6:43735714-43735715	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs565278135	chr6:43735767-43735768	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs532760607	chr6:43735855-43735856	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs544631115	chr6:43735868-43735869	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs563029114	chr6:43735884-43735885	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs530596061	chr6:43735935-43735936	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs548826820	chr6:43735941-43735942	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs376471919	chr6:43735942-43735943	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs528286923	chr6:43735979-43735980	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs12208152	chr6:43735980-43735981	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs539015056	chr6:43735985-43735986	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs71562775	chr6:43736001-43736002	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs148167819	chr6:43736029-43736030	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs180750781	chr6:43736112-43736113	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs77064698	chr6:43736121-43736122	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs184611063	chr6:43736127-43736128	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs573375205	chr6:43736152-43736153	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	21569311	CNVD
Cancer	20164920	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43709000-43737000	Weak transcription	Right Atrium	heart
2	chr6:43722000-43737400	Weak transcription	Fetal Kidney	kidney
3	chr6:43727600-43737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:43729200-43737200	Weak transcription	Spleen	Spleen
5	chr6:43729800-43737400	Enhancers	Fetal Intestine Small	intestine
6	chr6:43730000-43737400	Enhancers	Fetal Intestine Large	intestine
7	chr6:43731400-43737400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:43731400-43737400	Enhancers	Stomach Mucosa	stomach
9	chr6:43731600-43735400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:43731800-43735800	Weak transcription	Ovary	ovary
11	chr6:43732000-43735800	Weak transcription	Osteobl	bone
12	chr6:43732000-43737400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:43732600-43735200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:43732600-43735400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:43732600-43736600	Weak transcription	K562	blood
16	chr6:43733000-43737200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:43733400-43735800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:43733400-43737400	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:43733400-43737400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:43733600-43735400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:43733800-43735000	Weak transcription	Gastric	stomach
22	chr6:43733800-43735200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr6:43733800-43736000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:43733800-43736400	Enhancers	Pancreas	Pancrea
25	chr6:43733800-43737000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:43733800-43737200	Enhancers	Liver	Liver
27	chr6:43734000-43735000	Flanking Active TSS	HepG2	liver
28	chr6:43734000-43735400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:43734000-43735600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:43734000-43737400	Enhancers	Colonic Mucosa	Colon
31	chr6:43734200-43735200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:43734200-43735400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:43734200-43735600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:43734200-43736200	Weak transcription	Small Intestine	intestine
35	chr6:43734200-43736800	Weak transcription	Hela-S3	cervix
36	chr6:43734200-43737400	Enhancers	Fetal Lung	lung
37	chr6:43734400-43735000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:43734400-43735600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:43734600-43735200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr6:43734600-43735600	Weak transcription	Fetal Stomach	stomach
41	chr6:43734600-43737200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr6:43734800-43735400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:43734800-43735600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:43734800-43735600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:43734800-43735600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:43734800-43737000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:43734800-43737200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:43735000-43735200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:43735000-43735800	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr6:43735000-43736200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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