Variant report

Variant	nsv875947
Chromosome Location	chr2:231190446-231281286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1535)
CpG islands
(count:1405)
Chromatin interactive
region (count:47)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1535 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:231193785-231193842	K562	blood:	n/a	n/a
2	ARID3A	chr2:231200089-231200926	K562	blood:	n/a	n/a
3	ARID3A	chr2:231263535-231263838	K562	blood:	n/a	n/a
4	ARID3A	chr2:231276292-231276680	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:231280723-231281323	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:231220790-231221227	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:231195481-231195828	K562	blood:	n/a	n/a
8	ATF1	chr2:231200164-231200933	K562	blood:	n/a	n/a
9	ATF1	chr2:231195509-231195828	K562	blood:	n/a	n/a
10	ATF1	chr2:231263609-231263884	K562	blood:	n/a	n/a
11	ATF2	chr2:231212671-231213120	GM12878	blood:	n/a	n/a
12	ATF2	chr2:231280714-231281474	GM12878	blood:	n/a	n/a
13	ATF2	chr2:231280632-231281470	GM12878	blood:	n/a	n/a
14	ATF2	chr2:231191499-231192552	GM12878	blood:	n/a	n/a
15	ATF2	chr2:231212653-231213056	GM12878	blood:	n/a	n/a
16	ATF2	chr2:231191449-231192490	GM12878	blood:	n/a	n/a
17	ATF3	chr2:231195446-231195770	K562	blood:	n/a	n/a
18	ATF3	chr2:231281189-231281351	K562	blood:	n/a	n/a
19	ATF3	chr2:231191653-231192040	K562	blood:	n/a	n/a
20	ATF3	chr2:231281190-231281360	GM12878	blood:	n/a	n/a
21	BACH1	chr2:231195688-231195715	K562	blood:	n/a	n/a
22	BACH1	chr2:231276688-231276906	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr2:231246869-231247136	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr2:231212939-231212941	K562	blood:	n/a	n/a
25	BATF	chr2:231212698-231213095	GM12878	blood:	n/a	n/a
26	BATF	chr2:231223054-231223350	GM12878	blood:	n/a	chr2:231223160-231223171
27	BATF	chr2:231192119-231192378	GM12878	blood:	n/a	n/a
28	BATF	chr2:231280664-231281100	GM12878	blood:	n/a	chr2:231280889-231280900
29	BATF	chr2:231212475-231213126	GM12878	blood:	n/a	n/a
30	BATF	chr2:231280742-231280971	GM12878	blood:	n/a	chr2:231280889-231280900
31	BATF	chr2:231191613-231192080	GM12878	blood:	n/a	chr2:231191862-231191873
32	BCL11A	chr2:231280704-231281017	GM12878	blood:	n/a	chr2:231280852-231280861
33	BCL11A	chr2:231212720-231213098	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:231280657-231281133	GM12878	blood:	n/a	chr2:231280852-231280861
35	BCL3	chr2:231280700-231281158	GM12878	blood:	n/a	chr2:231280852-231280861
36	BCLAF1	chr2:231280729-231281552	GM12878	blood:	n/a	chr2:231280852-231280861
37	BCLAF1	chr2:231280633-231281323	GM12878	blood:	n/a	chr2:231280852-231280861
38	BCLAF1	chr2:231191490-231192616	GM12878	blood:	n/a	n/a
39	BHLHE40	chr2:231191722-231192202	GM12878	blood:	n/a	n/a
40	BHLHE40	chr2:231212896-231213138	GM12878	blood:	n/a	n/a
41	BHLHE40	chr2:231276279-231276790	GM12878	blood:	n/a	n/a
42	BHLHE40	chr2:231191646-231192075	K562	blood:	n/a	n/a
43	BHLHE40	chr2:231276018-231276977	HepG2	liver:	n/a	n/a
44	BHLHE40	chr2:231280739-231281488	K562	blood:	n/a	n/a
45	BHLHE40	chr2:231280661-231281529	GM12878	blood:	n/a	n/a
46	BHLHE40	chr2:231280783-231281442	HepG2	liver:	n/a	n/a
47	BHLHE40	chr2:231200051-231200459	K562	blood:	n/a	n/a
48	BHLHE40	chr2:231195575-231195864	K562	blood:	n/a	n/a
49	BHLHE40	chr2:231276170-231276987	K562	blood:	n/a	n/a
50	BRCA1	chr2:231276481-231276823	Hela-S3	cervix:	n/a	n/a

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:231281264-231281314	HIPEpiC	eye:	n/a
2	chr2:231280903-231280953	PFSK-1	brain:	n/a
3	chr2:231281264-231281314	HIPEpiC	eye:	n/a
4	chr2:231280903-231280953	PFSK-1	brain:	n/a
5	chr2:231276624-231276674	HRCEpiC	kidney:	n/a
6	chr2:231280698-231280748	AG10803	skin:	n/a
7	chr2:231277705-231277755	A549	lung:	n/a
8	chr2:231191662-231191712	AG09319	gingival:	n/a
9	chr2:231191876-231191926	HepG2	liver:	n/a
10	chr2:231277705-231277755	HL-60	blood:	n/a
11	chr2:231281264-231281314	HEEpiC	esophagus:	n/a
12	chr2:231191893-231191943	HRPEpiC	eye:	n/a
13	chr2:231191876-231191926	HRCEpiC	kidney:	n/a
14	chr2:231280878-231280928	HRPEpiC	eye:	n/a
15	chr2:231276073-231276123	SKMC	muscle:	n/a
16	chr2:231235574-231235624	HCPEpiC	choroid plexus:	n/a
17	chr2:231191916-231191966	AG09319	gingival:	n/a
18	chr2:231191662-231191712	PANC-1	pancreas:	n/a
19	chr2:231279916-231279966	SKMC	muscle:	n/a
20	chr2:231276668-231276718	Caco-2	colon:	n/a
21	chr2:231280878-231280928	PANC-1	pancreas:	n/a
22	chr2:231280903-231280953	A549	lung:	n/a
23	chr2:231280903-231280953	SK-N-MC	brain:	n/a
24	chr2:231190414-231190464	GM19239	blood:	n/a
25	chr2:231279916-231279966	HL-60	blood:	n/a
26	chr2:231276363-231276413	AG09309	skin:	n/a
27	chr2:231280907-231280957	HCT-116	colon:	n/a
28	chr2:231276073-231276123	AG04449	skin:	fetal
29	chr2:231280907-231280957	GM12892	blood:	n/a
30	chr2:231277436-231277486	HCPEpiC	choroid plexus:	n/a
31	chr2:231276624-231276674	GM06990	blood:	n/a
32	chr2:231279916-231279966	BJ	skin:	n/a
33	chr2:231276363-231276413	Jurkat	blood:	n/a
34	chr2:231277705-231277755	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:231280698-231280748	HNPCEpiC	eye:	n/a
36	chr2:231268327-231268377	BE2_C	brain:	n/a
37	chr2:231280698-231280748	HCPEpiC	choroid plexus:	n/a
38	chr2:231276363-231276413	BE2_C	brain:	n/a
39	chr2:231235574-231235624	H1-hESC	embryonic stem cell:	embryo
40	chr2:231276668-231276718	Hela-S3	cervix:	n/a
41	chr2:231279916-231279966	HMEC	breast:	n/a
42	chr2:231191727-231191777	HCF	heart:	n/a
43	chr2:231276624-231276674	NB4	blood:	n/a
44	chr2:231280878-231280928	SAEC	small airway:	n/a
45	chr2:231191662-231191712	HEK293	kidney:	embryo
46	chr2:231276073-231276123	GM12892	blood:	n/a
47	chr2:231268327-231268377	NHBE	bronchial:	n/a
48	chr2:231281264-231281314	HRPEpiC	eye:	n/a
49	chr2:231191662-231191712	IMR90	lung:	fetal
50	chr2:231191727-231191777	AG04449	skin:	fetal

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:6981832..6982808-chr2:231280454..231281321,2	Hela-S3	cervix:
2	chr2:231232811..231234963-chr2:231243502..231245395,2	K562	blood:
3	chr2:231211181..231213107-chr2:231272080..231274624,2	K562	blood:
4	chr2:231199506..231201405-chr2:231206253..231208187,2	K562	blood:
5	chr2:231245270..231247001-chr2:231250596..231253585,2	K562	blood:
6	chr2:231269734..231271710-chr2:231274995..231278115,3	K562	blood:
7	chr2:231211608..231214034-chr2:231214766..231217419,2	K562	blood:
8	chr2:231276236..231278325-chr2:231279653..231283011,3	K562	blood:
9	chr16:17916509..17917287-chr2:231255356..231256048,2	MCF-7	breast:
10	chr2:231183815..231186331-chr2:231189683..231191890,3	MCF-7	breast:
11	chr2:231211608..231214034-chr2:231214766..231217419,2	K562	blood:
12	chr2:231191663..231192385-chr2:231280228..231281288,3	Hela-S3	cervix:
13	chr1:207495007..207495512-chr2:231276404..231277158,2	NB4	blood:
14	chr2:231194037..231196548-chr2:231226140..231228040,2	K562	blood:
15	chr2:231250470..231252017-chr2:231286033..231287832,2	K562	blood:
16	chr2:231269734..231271710-chr2:231274995..231278115,3	K562	blood:
17	chr2:231280254..231281169-chr8:125462695..125463364,2	NB4	blood:
18	chr2:231235932..231237817-chr2:231243056..231245722,2	K562	blood:
19	chr2:231250673..231252951-chr2:231254109..231256319,2	K562	blood:
20	chr2:231273497..231275007-chr2:231279310..231281217,2	MCF-7	breast:
21	chr2:231187795..231189523-chr2:231196681..231199404,2	MCF-7	breast:
22	chr2:231192831..231194646-chr2:231195490..231197463,2	K562	blood:
23	chr2:231232811..231234963-chr2:231243502..231245395,2	K562	blood:
24	chr2:231263713..231265623-chr2:231266968..231269149,2	K562	blood:
25	chr2:231250673..231252951-chr2:231254109..231256319,2	K562	blood:
26	chr2:231211181..231213107-chr2:231272080..231274624,2	K562	blood:
27	chr2:231211208..231214034-chr2:231215264..231217419,2	K562	blood:
28	chr2:231208083..231209786-chr2:231217678..231219607,2	K562	blood:
29	chr2:231195214..231197850-chr2:231199409..231202103,3	K562	blood:
30	chr2:231191754..231192275-chr2:231280477..231281313,4	HCT-116	colon:
31	chr2:231191754..231192275-chr2:231280477..231281313,4	HCT-116	colon:
32	chr2:231187646..231188478-chr2:231276184..231277085,2	HCT-116	colon:
33	chr2:231187450..231190323-chr2:231192038..231194221,2	K562	blood:
34	chr2:231276297..231278950-chr2:231279090..231280823,2	MCF-7	breast:
35	chr2:231195214..231197850-chr2:231199409..231202103,3	K562	blood:
36	chr2:231192831..231194646-chr2:231195490..231197463,2	K562	blood:
37	chr2:231235932..231237817-chr2:231243056..231245722,2	K562	blood:
38	chr2:231191663..231192385-chr2:231280228..231281288,3	Hela-S3	cervix:
39	chr2:231245270..231247001-chr2:231250596..231253585,2	K562	blood:
40	chr2:231208083..231209786-chr2:231217678..231219607,2	K562	blood:
41	chr2:231225373..231227509-chr2:231238018..231240508,2	MCF-7	breast:
42	chr2:231211208..231214034-chr2:231215264..231217419,2	K562	blood:
43	chr2:231225373..231227509-chr2:231238018..231240508,2	MCF-7	breast:
44	chr2:231276390..231278062-chr2:231285132..231287454,2	K562	blood:
45	chr2:231191400..231192273-chr2:231280039..231281003,2	MCF-7	breast:
46	chr2:231194037..231196548-chr2:231226140..231228040,2	K562	blood:
47	chr2:231191400..231192273-chr2:231280039..231281003,2	MCF-7	breast:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP140-5	chr2:231256802-231256944	NONHSAT077278
2	lnc-SP140-5	chr2:231265049-231265192	NONHSAT077281
3	lnc-SP140-5	chr2:231256802-231256944	NONHSAT077280
4	lnc-SP140-5	chr2:231261472-231261513	NONHSAT077280
5	lnc-SP110-5	chr2:231263880-231265192	ucscGeneNc_uc002vqw_1
6	lnc-SP140-5	chr2:231264536-231264957	NONHSAT077281
7	lnc-SP140-5	chr2:231267513-231267603	NONHSAT077282
8	lnc-SP140-5	chr2:231258129-231258176	NONHSAT077280
9	lnc-SP140-5	chr2:231266379-231266522	NONHSAT077278
10	lnc-SP140-5	chr2:231249956-231250019	NONHSAT077279
11	lnc-SP110-5	chr2:231269262-231269654	ucscGeneNc_uc002vqw_1
12	lnc-SP140-5	chr2:231258129-231258176	NONHSAT077278
13	lnc-SP140-5	chr2:231261472-231261513	NONHSAT077278
14	lnc-SP140-5	chr2:231253274-231253348	NONHSAT077278
15	lnc-SP140-5	chr2:231253274-231253501	NONHSAT077279
16	lnc-SP140-5	chr2:231267513-231268445	NONHSAT077278
17	lnc-SP140-5	chr2:231264842-231266158	NONHSAT077278
18	lnc-SP110-5	chr2:231273282-231273488	ucscGeneNc_uc002vqw_1
19	lnc-SP140-5	chr2:231265846-231266522	NONHSAT077282
20	lnc-SP140-5	chr2:231254634-231254738	NONHSAT077278
21	lnc-SP140-5	chr2:231236313-231236366	NONHSAT077278
22	lnc-SP140-5	chr2:231235621-231235682	NONHSAT077278
23	lnc-SP140-5	chr2:231248225-231248290	NONHSAT077278
24	lnc-SP140-5	chr2:231249939-231250019	NONHSAT077278
25	lnc-SP140-5	chr2:231265670-231265768	NONHSAT077280
26	lnc-SP140-5	chr2:231264842-231264957	NONHSAT077280
27	lnc-SP110-6	chr2:231275415-231277244	NONHSAT077283
28	lnc-SP140-5	chr2:231256430-231256522	NONHSAT077280
29	lnc-SP110-5	chr2:231267510-231268205	ucscGeneNc_uc002vqw_1
30	lnc-SP140-5	chr2:231265049-231265128	NONHSAT077280

No data

Variant related genes	Relation type
SP140L	TF binding region
SP100	TF binding region
SP140L	CpG island
SP100	CpG island
ENSG00000067066	chromatin interactions
ENSG00000010626	chromatin interactions
ENSG00000240370	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000185404	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000111671	chromatin interactions

Extended variants
information (count: 3551 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3551 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17330963	chr2:231190446-231190447	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559793693	chr2:231190449-231190450	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs533615893	chr2:231190574-231190575	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551642064	chr2:231190616-231190617	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139459860	chr2:231190627-231190628	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs1107230	chr2:231190636-231190637	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548583890	chr2:231190658-231190659	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs1107229	chr2:231190666-231190667	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149699391	chr2:231190767-231190768	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145522590	chr2:231190803-231190804	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571439867	chr2:231190810-231190811	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2254684	chr2:231190882-231190883	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375850207	chr2:231190928-231190929	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2559089	chr2:231190944-231190945	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541149894	chr2:231190952-231190953	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs35499526	chr2:231190978-231190979	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537578678	chr2:231190993-231190994	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2255345	chr2:231191015-231191016	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs665577	chr2:231191045-231191046	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs574027609	chr2:231191051-231191052	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs541058539	chr2:231191107-231191108	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191181414	chr2:231191114-231191115	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs34153375	chr2:231191116-231191117	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs35877011	chr2:231191139-231191140	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373588190	chr2:231191160-231191161	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577609495	chr2:231191169-231191170	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs3997243	chr2:231191170-231191171	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs521564	chr2:231191178-231191179	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs521518	chr2:231191196-231191197	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs578148312	chr2:231191210-231191211	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs545604079	chr2:231191213-231191214	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs520473	chr2:231191331-231191332	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs563504696	chr2:231191375-231191376	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs58305522	chr2:231191377-231191378	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs519696	chr2:231191388-231191389	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542324617	chr2:231191393-231191394	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs180708500	chr2:231191406-231191407	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186441887	chr2:231191443-231191444	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs546235803	chr2:231191457-231191458	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs2894709	chr2:231191487-231191488	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11685434	chr2:231191513-231191514	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190910227	chr2:231191527-231191528	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146149323	chr2:231191529-231191530	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548859769	chr2:231191583-231191584	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs56090445	chr2:231191602-231191603	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74708723	chr2:231191614-231191615	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569102659	chr2:231191640-231191641	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34572849	chr2:231191645-231191646	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536449570	chr2:231191739-231191740	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs2702273	chr2:231191743-231191744	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3042 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231184200-231191200	Weak transcription	HMEC	breast
2	chr2:231184800-231191200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:231184800-231191400	Weak transcription	Right Atrium	heart
4	chr2:231187000-231191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:231187000-231191400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:231187800-231191400	Weak transcription	Thymus	Thymus
7	chr2:231188200-231191200	Weak transcription	Osteobl	bone
8	chr2:231188400-231191000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:231188400-231191400	Weak transcription	A549	lung
10	chr2:231188600-231191200	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:231188600-231191400	Weak transcription	K562	blood
12	chr2:231189200-231191000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:231189400-231191200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:231189400-231191400	Weak transcription	Pancreas	Pancrea
15	chr2:231189400-231191400	Enhancers	Spleen	Spleen
16	chr2:231189600-231191200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:231189600-231191200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:231189600-231191200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:231189800-231191200	Enhancers	Primary T cells from cord blood	blood
20	chr2:231189800-231191200	Enhancers	Hela-S3	cervix
21	chr2:231189800-231191200	Enhancers	HepG2	liver
22	chr2:231189800-231191400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:231190000-231191200	Enhancers	Primary B cells from cord blood	blood
24	chr2:231190000-231191200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:231190000-231191200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:231190000-231191200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:231190000-231191200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:231190000-231191800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:231190000-231194000	Flanking Active TSS	Dnd41	blood
30	chr2:231190200-231190800	Enhancers	Lung	lung
31	chr2:231190200-231191200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:231190200-231191200	Enhancers	Liver	Liver
33	chr2:231190200-231191200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:231190200-231191400	Weak transcription	Right Ventricle	heart
35	chr2:231190200-231191400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:231190200-231191400	Enhancers	Stomach Mucosa	stomach
37	chr2:231190400-231190600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:231190400-231190600	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr2:231190400-231190600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:231190400-231191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:231190400-231191200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:231190400-231191200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:231190400-231191200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:231190400-231191200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:231190400-231191400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:231190400-231191400	Weak transcription	Esophagus	oesophagus
47	chr2:231190400-231191400	Enhancers	Placenta	Placenta
48	chr2:231190400-231191400	Enhancers	Fetal Thymus	thymus
49	chr2:231190400-231191400	Weak transcription	Left Ventricle	heart
50	chr2:231190600-231191000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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