Variant report

Variant	rs372957606
Chromosome Location	chr6:166796382-166796383
allele	A/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	NFIC	chr6:166796154-166797783	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:166796195-166796927	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr6:166796250-166796849	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr6:166795215-166797378	K562	blood:	n/a	n/a
5	POLR2A	chr6:166796180-166796902	U87	brain:	n/a	n/a
6	E2F4	chr6:166796207-166797476	MCF10A-Er-Src	breast:	n/a	chr6:166796616-166796625 chr6:166796593-166796605 chr6:166796827-166796836 chr6:166796592-166796603
7	SIN3AK20	chr6:166795848-166797290	K562	blood:	n/a	n/a
8	STAT5A	chr6:166796030-166797477	GM12878	blood:	n/a	chr6:166796949-166796969
9	CHD2	chr6:166796277-166797120	HepG2	liver:	n/a	n/a
10	ZBTB7A	chr6:166795347-166797515	ECC-1	luminal epithelium:	n/a	chr6:166796136-166796144
11	NFIC	chr6:166796231-166796898	HepG2	liver:	n/a	n/a
12	MAZ	chr6:166795132-166797512	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
13	TAF1	chr6:166796227-166797316	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr6:166795170-166797425	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
15	ZBTB7A	chr6:166795332-166797300	K562	blood:	n/a	chr6:166796136-166796144
16	POLR2A	chr6:166796125-166797312	H1-neurons	neurons:	n/a	n/a
17	ZBTB7A	chr6:166795310-166796512	K562	blood:	n/a	chr6:166796136-166796144
18	NFYB	chr6:166796195-166796893	K562	blood:	n/a	chr6:166796526-166796541 chr6:166796526-166796540 chr6:166796523-166796538 chr6:166796525-166796537 chr6:166796526-166796541
19	ZBTB7A	chr6:166796310-166796540	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:166796190-166796904	GM12878	blood:	n/a	n/a
21	RELA	chr6:166796184-166797345	GM15510	blood:	n/a	n/a
22	TAF1	chr6:166796210-166797156	GM12878	blood:	n/a	n/a
23	ATF3	chr6:166796333-166796743	H1-hESC	embryonic stem cell:	n/a	chr6:166796479-166796499 chr6:166796616-166796625
24	CTCF	chr6:166796325-166796454	NHEK	skin:	n/a	n/a
25	MXI1	chr6:166796230-166797254	K562	blood:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
26	POLR2A	chr6:166795848-166796565	GM12892	blood:	n/a	n/a
27	POLR2A	chr6:166796181-166797434	K562	blood:	n/a	n/a
28	USF1	chr6:166796351-166796689	SK-N-SH_RA	brain:	n/a	chr6:166796445-166796461 chr6:166796619-166796635
29	TAF1	chr6:166796235-166796565	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:166796171-166796554	Hela-S3	cervix:	n/a	n/a
31	YY1	chr6:166796065-166797163	K562	blood:	n/a	chr6:166796619-166796633 chr6:166796620-166796634 chr6:166796616-166796625 chr6:166796877-166796891 chr6:166796988-166797002 chr6:166796827-166796836
32	TAF1	chr6:166796233-166796502	GM12891	blood:	n/a	n/a
33	POLR2A	chr6:166796136-166797917	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:166796222-166796858	SK-N-SH	brain:	n/a	n/a
35	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
36	MAX	chr6:166796206-166797351	MCF-7	breast:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
37	POLR2A	chr6:166796185-166797460	K562	blood:	n/a	n/a
38	NRF1	chr6:166796329-166796831	GM12878	blood:	n/a	chr6:166796616-166796625
39	POLR2A	chr6:166796273-166796503	A549	lung:	n/a	n/a
40	SP2	chr6:166796317-166796709	K562	blood:	n/a	chr6:166796471-166796486
41	MYC	chr6:166796325-166797412	MCF10A-Er-Src	breast:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
42	MAX	chr6:166796271-166796743	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:166796332-166797551	GM12878	blood:	n/a	chr6:166796776-166796784
44	SP2	chr6:166796289-166796717	K562	blood:	n/a	chr6:166796471-166796486
45	MYC	chr6:166796377-166796969	HUVEC	blood vessel:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
46	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
47	CHD2	chr6:166796313-166797263	K562	blood:	n/a	n/a
48	POLR2A	chr6:166796232-166797542	K562	blood:	n/a	n/a
49	POLR2A	chr6:166796145-166796977	ECC-1	luminal epithelium:	n/a	n/a
50	BHLHE40	chr6:166796185-166797343	HepG2	liver:	n/a	chr6:166796445-166796461 chr6:166796987-166797003 chr6:166796619-166796635

No.	Distal block	Cell Line	Cell type
1	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:
2	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
3	chr6:166754173..166757774-chr6:166795355..166798060,3	MCF-7	breast:
4	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:

Variant related genes	Relation type
MPC1	TF binding region
ENSG00000261420	TF binding region
ENSG00000233231	Chromatin interaction
ENSG00000198818	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv3376653	chr6:166783590-166798116	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3422353	chr6:166794787-166797335	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3329582	chr6:166795187-166797735	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3340680	chr6:166795587-166798135	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166794400-166796400	Active TSS	Right Atrium	heart
2	chr6:166794400-166797600	Active TSS	GM12878-XiMat	blood
3	chr6:166794400-166797800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:166794400-166798000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:166794600-166797600	Active TSS	Psoas Muscle	Psoas
6	chr6:166794600-166797600	Active TSS	Right Ventricle	heart
7	chr6:166794600-166797800	Active TSS	Brain Angular Gyrus	brain
8	chr6:166794600-166797800	Active TSS	NHEK	skin
9	chr6:166794800-166796400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr6:166794800-166797200	Active TSS	Fetal Stomach	stomach
11	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
12	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
18	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
19	chr6:166794800-166797600	Active TSS	K562	blood
20	chr6:166794800-166797600	Active TSS	NHLF	lung
21	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
25	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
26	chr6:166795000-166797200	Active TSS	Primary B cells from peripheral blood	blood
27	chr6:166795000-166797200	Active TSS	Fetal Lung	lung
28	chr6:166795000-166797200	Active TSS	Dnd41	blood
29	chr6:166795000-166797400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr6:166795000-166797400	Active TSS	Fetal Muscle Trunk	muscle
31	chr6:166795000-166797400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:166795000-166797600	Active TSS	Aorta	Aorta
35	chr6:166795000-166797600	Active TSS	Ovary	ovary
36	chr6:166795000-166797600	Active TSS	A549	lung
37	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
38	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine
42	chr6:166795000-166797800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:166795000-166798000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:166795000-166798000	Active TSS	Brain Hippocampus Middle	brain
45	chr6:166795000-166798000	Active TSS	Colonic Mucosa	Colon
46	chr6:166795000-166798000	Active TSS	Hela-S3	cervix
47	chr6:166795200-166797200	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr6:166795200-166797400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:166795200-166797400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr6:166795200-166797400	Active TSS	Primary T helper cells PMA-I stimulated	--

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