Variant report

Variant	rs76805259
Chromosome Location	chr6:128842245-128842246
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:128840196-128842291	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr6:128841319-128842741	SK-N-SH	brain:	n/a	n/a
3	TCF7L2	chr6:128841175-128842386	HCT-116	colon:	n/a	n/a
4	FOS	chr6:128842019-128842782	HUVEC	blood vessel:	n/a	chr6:128842574-128842585
5	MAZ	chr6:128841559-128842388	HepG2	liver:	n/a	n/a
6	BRCA1	chr6:128841550-128842404	Hela-S3	cervix:	n/a	n/a
7	TAF1	chr6:128840069-128842287	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFIC	chr6:128842012-128842721	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr6:128841460-128842800	Hela-S3	cervix:	n/a	chr6:128841979-128841991 chr6:128841929-128841943
10	POLR2A	chr6:128841338-128842324	HUVEC	blood vessel:	n/a	n/a
11	KAP1	chr6:128841870-128842671	U2OS	brain:	n/a	chr6:128842058-128842066
12	ZKSCAN1	chr6:128841128-128842252	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr6:128841009-128842299	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr6:128839932-128842908	SK-N-SH	brain:	n/a	chr6:128842311-128842318
15	MAX	chr6:128839968-128842318	Hela-S3	cervix:	n/a	chr6:128841389-128841399
16	POLR2A	chr6:128841272-128842727	U87	brain:	n/a	n/a
17	ZBTB7A	chr6:128841866-128842354	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr6:128839590-128842584	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:128839641-128842717	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr6:128839549-128842729	MCF-7	breast:	n/a	n/a
21	MAX	chr6:128840085-128842519	MCF-7	breast:	n/a	chr6:128841389-128841399
22	HA-E2F1	chr6:128841330-128842274	Hela-S3	cervix:	n/a	chr6:128841922-128841931 chr6:128841701-128841711 chr6:128841557-128841566
23	CREB1	chr6:128839638-128842310	HepG2	liver:	n/a	chr6:128841786-128841799 chr6:128841786-128841799
24	TCF7L2	chr6:128840557-128842326	PANC-1	pancreas:	n/a	n/a
25	RAD21	chr6:128841599-128842251	MCF-7	breast:	n/a	chr6:128841979-128841991 chr6:128841929-128841943
26	FOS	chr6:128842240-128842750	MCF10A-Er-Src	breast:	n/a	chr6:128842574-128842585
27	MAX	chr6:128839544-128842311	HepG2	liver:	n/a	chr6:128841389-128841399
28	JUND	chr6:128841297-128842343	H1-hESC	embryonic stem cell:	n/a	chr6:128841623-128841632 chr6:128841619-128841628
29	PBX3	chr6:128841469-128842812	SK-N-SH	brain:	n/a	n/a
30	MYBL2	chr6:128840799-128842316	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:128841380-128842288	PANC-1	pancreas:	n/a	n/a
32	TAF1	chr6:128841568-128842246	H1-neurons	neurons:	n/a	n/a
33	CEBPB	chr6:128841383-128842816	Hela-S3	cervix:	n/a	chr6:128842683-128842695
34	POLR2A	chr6:128841413-128842740	SK-N-SH	brain:	n/a	n/a
35	MYBL2	chr6:128841077-128842535	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:128841278-128842689	U87	brain:	n/a	n/a
37	RAD21	chr6:128841286-128842486	H1-hESC	embryonic stem cell:	n/a	chr6:128841979-128841991 chr6:128841929-128841943
38	USF2	chr6:128842146-128842358	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr6:128839589-128842941	IMR90	lung:	n/a	n/a
40	POLR2A	chr6:128840603-128842486	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr6:128839770-128842542	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:128840197-128842325	GM18951	blood:	n/a	n/a
43	SMC3	chr6:128840095-128842611	Hela-S3	cervix:	n/a	chr6:128841851-128841861
44	MAX	chr6:128839581-128842277	HepG2	liver:	n/a	chr6:128841389-128841399
45	CTCF	chr6:128842120-128842270	HMEC	breast:	n/a	n/a
46	TEAD4	chr6:128841557-128842565	ECC-1	luminal epithelium:	n/a	n/a
47	NFIC	chr6:128841354-128842254	HepG2	liver:	n/a	n/a
48	TCF7L2	chr6:128840753-128842468	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr6:128840737-128842988	MCF10A-Er-Src	breast:	n/a	n/a
50	CHD2	chr6:128840796-128842445	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:128529927..128532522-chr6:128841893..128843396,2	MCF-7	breast:
2	chr16:75143191..75144858-chr6:128840309..128843134,2	MCF-7	breast:
3	chr6:128819294..128822394-chr6:128840492..128843286,6	MCF-7	breast:
4	chr6:128817983..128822479-chr6:128839649..128843314,6	MCF-7	breast:

Variant related genes	Relation type
PTPRK	TF binding region
ENSG00000224733	Chromatin interaction
ENSG00000247033	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758078	chr6:128842192-128844831	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv2759468	chr6:128842192-128844831	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128837200-128842800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:128838200-128842400	Active TSS	Brain Cingulate Gyrus	brain
3	chr6:128838400-128843000	Active TSS	Fetal Brain Male	brain
4	chr6:128838600-128842400	Active TSS	Fetal Intestine Small	intestine
5	chr6:128838600-128842600	Active TSS	Brain Hippocampus Middle	brain
6	chr6:128838600-128842600	Active TSS	Fetal Intestine Large	intestine
7	chr6:128838600-128842800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:128838600-128842800	Active TSS	Brain Angular Gyrus	brain
9	chr6:128838800-128842400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:128838800-128842600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:128838800-128842800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:128838800-128842800	Active TSS	Stomach Smooth Muscle	stomach
13	chr6:128839000-128842400	Active TSS	NH-A	brain
14	chr6:128839200-128842800	Active TSS	Right Atrium	heart
15	chr6:128839400-128842600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:128839400-128842600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:128839400-128842600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:128839400-128842600	Active TSS	Brain Anterior Caudate	brain
19	chr6:128839400-128842600	Active TSS	Colonic Mucosa	Colon
20	chr6:128839400-128842600	Active TSS	Fetal Heart	heart
21	chr6:128839400-128842600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:128839400-128842600	Active TSS	NHDF-Ad	bronchial
23	chr6:128839400-128842800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:128839400-128842800	Active TSS	HSMMtube	muscle
25	chr6:128839600-128842400	Active TSS	Colon Smooth Muscle	Colon
26	chr6:128839600-128842400	Active TSS	Ovary	ovary
27	chr6:128839600-128842400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr6:128839600-128842400	Bivalent/Poised TSS	HepG2	liver
29	chr6:128839600-128842400	Active TSS	NHEK	skin
30	chr6:128839600-128842600	Active TSS	Left Ventricle	heart
31	chr6:128839600-128842600	Active TSS	Pancreas	Pancrea
32	chr6:128839600-128842600	Active TSS	Rectal Smooth Muscle	rectum
33	chr6:128839600-128842600	Active TSS	A549	lung
34	chr6:128839600-128842600	Active TSS	NHLF	lung
35	chr6:128839800-128842400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:128839800-128842400	Active TSS	Aorta	Aorta
37	chr6:128839800-128842400	Active TSS	Lung	lung
38	chr6:128839800-128842400	Active TSS	Small Intestine	intestine
39	chr6:128839800-128842600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr6:128839800-128842600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:128839800-128842600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:128839800-128842600	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:128839800-128842600	Active TSS	Psoas Muscle	Psoas
44	chr6:128840000-128842400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr6:128840000-128842400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr6:128840000-128842400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:128840000-128842400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr6:128840000-128842400	Active TSS	Esophagus	oesophagus
49	chr6:128840000-128842600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:128840000-128842600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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