Variant report

Variant	esv3421845
Chromosome Location	chr6:26519998-26522546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:960)
CpG islands
(count:611)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:26521889-26521981	K562	blood:	n/a	n/a
2	ARID3A	chr6:26521339-26521708	HepG2	liver:	n/a	n/a
3	ATF2	chr6:26521318-26522136	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr6:26521341-26521782	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr6:26521333-26521760	GM12878	blood:	n/a	n/a
6	ATF2	chr6:26521251-26521774	GM12878	blood:	n/a	n/a
7	ATF3	chr6:26521220-26522244	A549	lung:	n/a	chr6:26522056-26522065
8	ATF3	chr6:26521137-26521846	A549	lung:	n/a	n/a
9	ATF3	chr6:26521135-26521822	HCT-116	colon:	n/a	n/a
10	ATF3	chr6:26521137-26521823	HCT-116	colon:	n/a	n/a
11	ATF3	chr6:26521073-26522259	K562	blood:	n/a	chr6:26522056-26522065
12	ATF3	chr6:26520742-26520897	GM12878	blood:	n/a	n/a
13	ATF3	chr6:26520663-26520900	K562	blood:	n/a	n/a
14	BACH1	chr6:26521341-26521899	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr6:26521319-26521573	GM12878	blood:	n/a	n/a
16	BATF	chr6:26521338-26521593	GM12878	blood:	n/a	n/a
17	BCL11A	chr6:26521245-26521668	GM12878	blood:	n/a	n/a
18	BCL11A	chr6:26521352-26521605	GM12878	blood:	n/a	n/a
19	BCLAF1	chr6:26521342-26521700	GM12878	blood:	n/a	n/a
20	BCLAF1	chr6:26521186-26522264	GM12878	blood:	n/a	n/a
21	BCLAF1	chr6:26520593-26520988	GM12878	blood:	n/a	n/a
22	BDP1	chr6:26521229-26521688	Hela-S3	cervix:	n/a	n/a
23	BDP1	chr6:26521234-26521618	K562	blood:	n/a	n/a
24	BHLHE40	chr6:26520433-26521031	K562	blood:	n/a	n/a
25	BHLHE40	chr6:26521926-26522531	K562	blood:	n/a	n/a
26	BHLHE40	chr6:26521365-26521604	HepG2	liver:	n/a	n/a
27	BHLHE40	chr6:26520683-26521021	HepG2	liver:	n/a	n/a
28	BHLHE40	chr6:26520724-26520984	GM12878	blood:	n/a	n/a
29	BHLHE40	chr6:26521371-26522338	GM12878	blood:	n/a	n/a
30	BRCA1	chr6:26521372-26521799	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr6:26521359-26521824	GM12878	blood:	n/a	n/a
32	BRCA1	chr6:26521167-26522022	Hela-S3	cervix:	n/a	n/a
33	BRF1	chr6:26521265-26521588	Hela-S3	cervix:	n/a	n/a
34	BRF1	chr6:26521243-26521595	K562	blood:	n/a	n/a
35	CBX3	chr6:26520543-26520994	K562	blood:	n/a	n/a
36	CBX3	chr6:26520534-26521061	K562	blood:	n/a	n/a
37	CBX3	chr6:26521223-26522686	K562	blood:	n/a	n/a
38	CCNT2	chr6:26521851-26522457	K562	blood:	n/a	n/a
39	CCNT2	chr6:26520236-26520250	K562	blood:	n/a	n/a
40	CCNT2	chr6:26521141-26521617	K562	blood:	n/a	chr6:26521334-26521343 chr6:26521348-26521357
41	CEBPB	chr6:26521352-26521730	ECC-1	luminal epithelium:	n/a	n/a
42	CEBPB	chr6:26521352-26522048	K562	blood:	n/a	chr6:26521720-26521733
43	CEBPB	chr6:26521373-26522185	Hela-S3	cervix:	n/a	chr6:26521720-26521733
44	CEBPB	chr6:26521396-26521805	K562	blood:	n/a	chr6:26521720-26521733
45	CEBPB	chr6:26521322-26521626	HepG2	liver:	n/a	n/a
46	CEBPB	chr6:26521366-26521719	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr6:26521341-26521639	GM12878	blood:	n/a	n/a
48	CEBPB	chr6:26521223-26521981	A549	lung:	n/a	chr6:26521720-26521733
49	CEBPB	chr6:26521151-26521853	GM12878	blood:	n/a	chr6:26521720-26521733
50	CEBPD	chr6:26521074-26521305	HepG2	liver:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26521747-26521797	BJ	skin:	n/a
2	chr6:26521747-26521797	BJ	skin:	n/a
3	chr6:26521747-26521797	PFSK-1	brain:	n/a
4	chr6:26521385-26521435	K562	blood:	n/a
5	chr6:26522325-26522375	MCF-7	breast:	n/a
6	chr6:26522136-26522186	HRCEpiC	kidney:	n/a
7	chr6:26520838-26520888	MCF10A-Er-Src	breast:	n/a
8	chr6:26520793-26520843	Caco-2	colon:	n/a
9	chr6:26521980-26522030	PrEC	prostate:	n/a
10	chr6:26520838-26520888	HUVEC	blood vessel:	n/a
11	chr6:26521980-26522030	GM12878	blood:	n/a
12	chr6:26521385-26521435	PFSK-1	brain:	n/a
13	chr6:26521980-26522030	BJ	skin:	n/a
14	chr6:26521696-26521746	RPTEC	kidney:	n/a
15	chr6:26520793-26520843	SK-N-SH	brain:	n/a
16	chr6:26522325-26522375	MCF10A-Er-Src	breast:	n/a
17	chr6:26520838-26520888	GM12878	blood:	n/a
18	chr6:26521385-26521435	NHDF-neo	bronchial:	n/a
19	chr6:26521272-26521322	ovcar-3	ovarian:	n/a
20	chr6:26520838-26520888	NHBE	bronchial:	n/a
21	chr6:26521980-26522030	U87	brain:	n/a
22	chr6:26521696-26521746	GM19239	blood:	n/a
23	chr6:26521272-26521322	SAEC	small airway:	n/a
24	chr6:26521005-26521055	BJ	skin:	n/a
25	chr6:26521696-26521746	PANC-1	pancreas:	n/a
26	chr6:26521005-26521055	GM06990	blood:	n/a
27	chr6:26520793-26520843	T-47D	breast:	n/a
28	chr6:26521747-26521797	SK-N-SH	brain:	n/a
29	chr6:26520793-26520843	K562	blood:	n/a
30	chr6:26521696-26521746	MCF-7	breast:	n/a
31	chr6:26520838-26520888	GM06990	blood:	n/a
32	chr6:26521980-26522030	PANC-1	pancreas:	n/a
33	chr6:26520838-26520888	HepG2	liver:	n/a
34	chr6:26522325-26522375	HRCEpiC	kidney:	n/a
35	chr6:26522325-26522375	HepG2	liver:	n/a
36	chr6:26521385-26521435	HRCEpiC	kidney:	n/a
37	chr6:26521385-26521435	LNCaP	prostate:	n/a
38	chr6:26521385-26521435	ProgFib	skin:	n/a
39	chr6:26521980-26522030	NH-A	brain:	n/a
40	chr6:26520793-26520843	HepG2	liver:	n/a
41	chr6:26521005-26521055	PANC-1	pancreas:	n/a
42	chr6:26521980-26522030	PFSK-1	brain:	n/a
43	chr6:26520838-26520888	HEEpiC	esophagus:	n/a
44	chr6:26521272-26521322	SK-N-SH	brain:	n/a
45	chr6:26521696-26521746	HCM	heart:	n/a
46	chr6:26522325-26522375	Jurkat	blood:	n/a
47	chr6:26521980-26522030	AG04449	skin:	fetal
48	chr6:26521747-26521797	AG04449	skin:	fetal
49	chr6:26521272-26521322	GM12891	blood:	n/a
50	chr6:26521696-26521746	AoSMC	blood vessel:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26217116..26219858-chr6:26520988..26523268,4	K562	blood:
2	chr6:6857012..6857665-chr6:26522158..26523073,2	Hela-S3	cervix:
3	chr6:26439181..26441832-chr6:26522312..26525308,2	K562	blood:
4	chr6:26521728..26524870-chr6:26525559..26528465,3	MCF-7	breast:
5	chr6:26383299..26384986-chr6:26520070..26522600,2	K562	blood:
6	chr6:26122811..26125684-chr6:26519933..26522732,4	K562	blood:
7	chr6:26420245..26422646-chr6:26519763..26522632,2	K562	blood:
8	chr6:26520458..26524632-chr6:26536427..26540091,8	MCF-7	breast:
9	chr6:26283829..26285786-chr6:26519588..26522507,3	K562	blood:
10	chr6:26341603..26342500-chr6:26520725..26521500,3	K562	blood:
11	chr6:26518768..26523261-chr6:26527138..26531427,8	MCF-7	breast:
12	chr6:26517743..26520869-chr6:26521157..26524450,4	MCF-7	breast:
13	chr6:26215412..26219085-chr6:26518224..26524021,6	K562	blood:
14	chr1:228783557..228784071-chr6:26519913..26520856,2	Hela-S3	cervix:
15	chr6:26284286..26286997-chr6:26519588..26522057,2	K562	blood:
16	chr6:26457960..26461047-chr6:26519488..26522400,3	MCF-7	breast:
17	chr6:26520371..26522004-chr6:27113193..27114715,2	K562	blood:
18	chr6:26321606..26324992-chr6:26518176..26520933,3	K562	blood:
19	chr6:26360935..26366570-chr6:26520779..26523276,5	K562	blood:
20	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
21	chr6:26229652..26232354-chr6:26520028..26522000,2	K562	blood:
22	chr6:26522198..26522805-chr7:86781872..86782576,2	Hela-S3	cervix:
23	chr5:44809278..44810132-chr6:26520519..26521156,2	Hela-S3	cervix:
24	chr6:26440218..26442900-chr6:26520172..26522018,2	K562	blood:
25	chr6:26352176..26356420-chr6:26519489..26524545,4	K562	blood:
26	chr6:26520627..26522671-chr6:26536742..26539578,4	MCF-7	breast:
27	chr6:26203687..26207464-chr6:26521178..26524047,5	K562	blood:
28	chr6:26400255..26403237-chr6:26521906..26524697,3	K562	blood:
29	chr6:26248591..26251636-chr6:26519454..26522320,3	K562	blood:
30	chr6:26319791..26322184-chr6:26520367..26521947,2	K562	blood:
31	chr6:26420252..26422779-chr6:26519711..26522673,2	K562	blood:
32	chr6:26399787..26402548-chr6:26520304..26522588,2	K562	blood:
33	chr6:26122246..26124996-chr6:26519353..26522732,3	K562	blood:
34	chr6:26187760..26190799-chr6:26518890..26523308,5	K562	blood:
35	chr6:26352931..26356420-chr6:26520848..26524138,3	K562	blood:
36	chr6:26187831..26190328-chr6:26520761..26523308,3	K562	blood:
37	chr6:26101462..26104336-chr6:26520946..26522887,2	MCF-7	breast:
38	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
39	chr6:26297237..26299588-chr6:26519952..26522018,2	K562	blood:
40	chr6:26195075..26199998-chr6:26518402..26523264,7	K562	blood:
41	chr6:26234528..26236146-chr6:26520612..26523386,2	K562	blood:
42	chr16:31191297..31191881-chr6:26521900..26522799,2	Hela-S3	cervix:
43	chr6:26198124..26199998-chr6:26520705..26522799,2	K562	blood:
44	chr6:26520764..26524239-chr6:26594606..26597481,4	K562	blood:
45	chr17:8339183..8340052-chr6:26520850..26521728,2	Hela-S3	cervix:
46	chr1:148241128..148242065-chr6:26522075..26522709,2	Hela-S3	cervix:
47	chr6:26517743..26520869-chr6:26521157..26524450,4	MCF-7	breast:
48	chr21:18884495..18885488-chr6:26521673..26522260,2	Hela-S3	cervix:
49	chr6:26157128..26159753-chr6:26519202..26521718,3	K562	blood:

No data

Variant related genes	Relation type
HCG11	TF binding region
ENSG00000261353	TF binding region
RNU6-502P	TF binding region
HCG11	CpG island
ENSG00000261353	CpG island
RNU6-502P	CpG island
ENSG00000112996	chromatin interactions
ENSG00000256316	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000124508	chromatin interactions
ENSG00000197061	chromatin interactions
ENSG00000111801	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000252399	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000220875	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000212237	chromatin interactions
ENSG00000124575	chromatin interactions
ENSG00000154639	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000186470	chromatin interactions
ENSG00000215979	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000158406	chromatin interactions
ENSG00000199289	chromatin interactions
ENSG00000146109	chromatin interactions
ENSG00000124549	chromatin interactions
ENSG00000216331	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000261353	chromatin interactions
ENSG00000182952	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000112763	chromatin interactions
ENSG00000026950	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000188987	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000180573	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552131503	chr6:26520136-26520137	Weak transcription Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
2	rs565041710	chr6:26520144-26520145	Weak transcription Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
3	rs371139399	chr6:26520153-26520154	Weak transcription Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
4	rs533610209	chr6:26520256-26520257	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
5	rs568781921	chr6:26520335-26520336	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
6	rs182999219	chr6:26520351-26520352	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
7	rs554854255	chr6:26520356-26520357	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
8	rs115897518	chr6:26520382-26520383	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
9	rs534121408	chr6:26520461-26520462	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
10	rs142961912	chr6:26520479-26520480	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
11	rs561692131	chr6:26520499-26520500	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
12	rs546006819	chr6:26520509-26520510	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
13	rs530024689	chr6:26520569-26520570	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
14	rs548326318	chr6:26520575-26520576	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
15	rs144397498	chr6:26520577-26520578	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
16	rs556490678	chr6:26520589-26520590	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
17	rs576372663	chr6:26520609-26520610	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
18	rs563775768	chr6:26520611-26520612	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
19	rs11753161	chr6:26520613-26520614	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
20	rs145094535	chr6:26520616-26520617	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
21	rs1535274	chr6:26520747-26520748	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	32 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs1535275	chr6:26520767-26520768	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs560419503	chr6:26520793-26520794	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
24	rs571062895	chr6:26520927-26520928	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
25	rs1535276	chr6:26520941-26520942	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs374816828	chr6:26520995-26520996	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
27	rs6924865	chr6:26521353-26521354	Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs568805438	chr6:26521356-26521357	Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
29	rs115181423	chr6:26521359-26521360	Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
30	rs547826869	chr6:26521377-26521378	Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
31	rs568403854	chr6:26521395-26521396	Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
32	rs534252545	chr6:26521419-26521420	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
33	rs556702486	chr6:26521420-26521421	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
34	rs117260370	chr6:26521421-26521422	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
35	rs188375743	chr6:26521422-26521423	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
36	rs576337082	chr6:26521423-26521424	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
37	rs535842084	chr6:26521425-26521426	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
38	rs555832727	chr6:26521426-26521427	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
39	rs574763831	chr6:26521427-26521428	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
40	rs540555961	chr6:26521428-26521429	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
41	rs560263265	chr6:26521429-26521430	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
42	rs576975850	chr6:26521432-26521433	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
43	rs191367146	chr6:26521433-26521434	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
44	rs562438758	chr6:26521434-26521435	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
45	rs6925047	chr6:26521435-26521436	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs557483888	chr6:26521440-26521441	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
47	rs547765056	chr6:26521444-26521445	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
48	rs572695065	chr6:26521454-26521455	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
49	rs540074857	chr6:26521455-26521456	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
50	rs569765223	chr6:26521465-26521466	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26505600-26520600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:26514200-26520400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:26515600-26520400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:26516000-26520400	Weak transcription	Fetal Intestine Large	intestine
5	chr6:26516000-26520400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:26516200-26520600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:26517200-26520600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:26517800-26520400	Weak transcription	A549	lung
9	chr6:26518200-26520200	Weak transcription	HepG2	liver
10	chr6:26519000-26520400	Enhancers	K562	blood
11	chr6:26519000-26520600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:26519200-26520200	Weak transcription	GM12878-XiMat	blood
13	chr6:26519800-26520400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:26520000-26520600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr6:26520200-26520400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:26520200-26520400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:26520200-26520400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:26520200-26520400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:26520200-26520400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:26520200-26520400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:26520200-26520400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:26520200-26520400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:26520200-26520400	Enhancers	Primary T cells from cord blood	blood
24	chr6:26520200-26520400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:26520200-26520400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:26520200-26520400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:26520200-26520400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:26520200-26520400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:26520200-26520400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:26520200-26520400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:26520200-26520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:26520200-26520400	Enhancers	Brain Anterior Caudate	brain
33	chr6:26520200-26520400	Enhancers	Brain Germinal Matrix	brain
34	chr6:26520200-26520400	Enhancers	Brain Hippocampus Middle	brain
35	chr6:26520200-26520400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr6:26520200-26520400	Enhancers	Colon Smooth Muscle	Colon
37	chr6:26520200-26520400	Enhancers	Duodenum Mucosa	Duodenum
38	chr6:26520200-26520400	Enhancers	Fetal Kidney	kidney
39	chr6:26520200-26520400	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:26520200-26520400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:26520200-26520400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:26520200-26520400	Enhancers	Dnd41	blood
43	chr6:26520200-26520400	Enhancers	GM12878-XiMat	blood
44	chr6:26520200-26520400	Enhancers	Hela-S3	cervix
45	chr6:26520200-26520400	Enhancers	HepG2	liver
46	chr6:26520200-26520400	Enhancers	HMEC	breast
47	chr6:26520200-26520400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:26520200-26520400	Enhancers	NHEK	skin
49	chr6:26520200-26520600	Enhancers	Primary B cells from peripheral blood	blood
50	chr6:26520200-26520600	Enhancers	Primary hematopoietic stem cells	blood

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