Variant report

Variant	rs662031
Chromosome Location	chr6:106808094-106808095
allele	G/T
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	RAD21	chr6:106807798-106808920	HCT-116	colon:	n/a	chr6:106808406-106808425
2	ZNF263	chr6:106808086-106809452	HEK293-T-REx	kidney:	n/a	chr6:106808989-106809010 chr6:106808766-106808775
3	RAD21	chr6:106808027-106808809	H1-hESC	embryonic stem cell:	n/a	chr6:106808406-106808425
4	CTCF	chr6:106808082-106808194	GM10248	blood:	n/a	n/a
5	CTCF	chr6:106808088-106808719	GM19238	blood:	n/a	chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
6	MAX	chr6:106807808-106809623	HCT-116	colon:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106807906-106807915 chr6:106808657-106808667
7	HDAC2	chr6:106807906-106809465	MCF-7	breast:	n/a	n/a
8	MAX	chr6:106808004-106809683	MCF-7	breast:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
9	MAX	chr6:106808055-106809421	ECC-1	luminal epithelium:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
10	MYC	chr6:106808074-106808817	MCF-7	breast:	n/a	chr6:106808130-106808141 chr6:106808657-106808667
11	NR2F2	chr6:106808056-106809166	MCF-7	breast:	n/a	n/a
12	YY1	chr6:106808073-106808765	ECC-1	luminal epithelium:	n/a	chr6:106808565-106808574 chr6:106808659-106808668
13	GATA3	chr6:106808083-106808881	MCF-7	breast:	n/a	n/a
14	MAX	chr6:106808061-106809417	H1-hESC	embryonic stem cell:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
15	CTCF	chr6:106807901-106808928	HCT-116	colon:	n/a	chr6:106808885-106808898 chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
16	RAD21	chr6:106807957-106808886	HCT-116	colon:	n/a	chr6:106808406-106808425
17	CTCF	chr6:106808091-106808733	GM12891	blood:	n/a	chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
18	TAF1	chr6:106808039-106809115	ECC-1	luminal epithelium:	n/a	n/a
19	YY1	chr6:106808080-106808682	HCT-116	colon:	n/a	chr6:106808565-106808574 chr6:106808659-106808668
20	CTCF	chr6:106808056-106808731	H1-hESC	embryonic stem cell:	n/a	chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
21	USF1	chr6:106807984-106808694	ECC-1	luminal epithelium:	n/a	chr6:106808630-106808646
22	KAP1	chr6:106807937-106808598	HEK293	kidney:	n/a	n/a
23	MAX	chr6:106808018-106809471	ECC-1	luminal epithelium:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
24	CTCF	chr6:106808091-106808803	Fibrobl	skin:	n/a	chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
25	HDAC2	chr6:106808012-106809097	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:106808082-106808638	GM13977	blood:	n/a	chr6:106808407-106808428 chr6:106808405-106808423 chr6:106808406-106808422
27	RAD21	chr6:106808090-106808816	MCF-7	breast:	n/a	chr6:106808406-106808425
28	CTCF	chr6:106808070-106808773	GM19240	blood:	n/a	chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
29	CTCF	chr6:106808038-106808859	A549	lung:	n/a	chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
30	CTCF	chr6:106807652-106809111	SK-N-SH	brain:	n/a	chr6:106808885-106808898 chr6:106808934-106808947 chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
31	CTCF	chr6:106808075-106808833	GM12892	blood:	n/a	chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
32	RAD21	chr6:106808073-106808722	H1-hESC	embryonic stem cell:	n/a	chr6:106808406-106808425
33	TCF12	chr6:106808087-106808796	ECC-1	luminal epithelium:	n/a	chr6:106808692-106808702
34	CHD1	chr6:106807809-106808374	H1-hESC	embryonic stem cell:	n/a	n/a
35	EP300	chr6:106808029-106808813	ECC-1	luminal epithelium:	n/a	chr6:106808787-106808803
36	HA-E2F1	chr6:106808002-106809577	MCF-7	breast:	n/a	chr6:106808562-106808571 chr6:106808659-106808668 chr6:106808891-106808901 chr6:106808888-106808898 chr6:106808934-106808944 chr6:106809292-106809304
37	ZEB1	chr6:106808088-106809217	HepG2	liver:	n/a	chr6:106808704-106808715 chr6:106808954-106808961 chr6:106808500-106808507 chr6:106808473-106808480 chr6:106808703-106808716 chr6:106808706-106808715 chr6:106809068-106809076
38	CTCF	chr6:106808088-106808649	K562	blood:	n/a	chr6:106808407-106808428 chr6:106808405-106808423 chr6:106808406-106808422
39	CTCF	chr6:106808040-106808190	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr6:106808073-106808659	GM19239	blood:	n/a	chr6:106808407-106808428 chr6:106808405-106808423 chr6:106808406-106808422
41	YY1	chr6:106807933-106808754	H1-hESC	embryonic stem cell:	n/a	chr6:106808565-106808574 chr6:106808659-106808668
42	CTCF	chr6:106808044-106808850	MCF-7	breast:	n/a	chr6:106808407-106808428 chr6:106808655-106808665 chr6:106808653-106808666 chr6:106808405-106808423 chr6:106808406-106808422
43	MAX	chr6:106807995-106809273	MCF-7	breast:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
44	YY1	chr6:106808026-106808734	ECC-1	luminal epithelium:	n/a	chr6:106808565-106808574 chr6:106808659-106808668
45	CEBPB	chr6:106808021-106808594	H1-hESC	embryonic stem cell:	n/a	chr6:106808139-106808152
46	POLR2A	chr6:106808060-106808950	ECC-1	luminal epithelium:	n/a	n/a
47	BACH1	chr6:106808003-106808919	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr6:106808056-106808780	IMR90	lung:	n/a	chr6:106808130-106808141 chr6:106808657-106808667
49	JUND	chr6:106807929-106808674	H1-hESC	embryonic stem cell:	n/a	n/a
50	ELF1	chr6:106808022-106809079	MCF-7	breast:	n/a	chr6:106808565-106808574

No.	Distal block	Cell Line	Cell type
1	chr6:106786568..106787852-chr6:106808000..106808986,4	MCF-7	breast:
2	chr6:106807797..106809564-chr6:106892316..106894790,2	MCF-7	breast:
3	chr3:64008693..64009614-chr6:106807869..106808706,2	MCF-7	breast:
4	chr6:106807691..106810089-chr6:106811513..106814878,6	MCF-7	breast:
5	chr6:106807932..106809126-chr6:106892501..106893325,3	MCF-7	breast:
6	chr6:106783081..106786779-chr6:106807913..106810095,3	MCF-7	breast:
7	chr6:106788817..106792867-chr6:106807861..106810730,3	MCF-7	breast:
8	chr6:105932781..105933301-chr6:106807922..106808689,2	K562	blood:
9	chr6:106807999..106808515-chr6:106892101..106893044,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233941	TF binding region
ENSG00000163636	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2749085	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs553307	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1031707	chr6:106803325-106896650	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106791000-106808200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:106807800-106808200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr6:106807800-106808200	Bivalent Enhancer	Primary B cells from cord blood	blood
4	chr6:106807800-106808200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr6:106807800-106808200	Bivalent Enhancer	Primary T cells from cord blood	blood
6	chr6:106807800-106808200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr6:106807800-106808200	Flanking Bivalent TSS/Enh	HepG2	liver
8	chr6:106807800-106808400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr6:106807800-106808400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr6:106807800-106808400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
11	chr6:106807800-106808600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr6:106807800-106808800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:106807800-106808800	Active TSS	A549	lung
14	chr6:106807800-106809400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr6:106807800-106809600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:106807800-106809600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:106807800-106809800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:106808000-106808200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:106808000-106808200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:106808000-106808200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:106808000-106808200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:106808000-106808200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr6:106808000-106808200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr6:106808000-106808200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
25	chr6:106808000-106808200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:106808000-106808200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr6:106808000-106808200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
28	chr6:106808000-106808200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr6:106808000-106808200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:106808000-106808200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:106808000-106808200	Bivalent Enhancer	Liver	Liver
32	chr6:106808000-106808200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
33	chr6:106808000-106808200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
34	chr6:106808000-106808200	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr6:106808000-106808200	Bivalent Enhancer	Brain Hippocampus Middle	brain
36	chr6:106808000-106808200	Bivalent Enhancer	Brain Substantia Nigra	brain
37	chr6:106808000-106808200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
38	chr6:106808000-106808200	Enhancers	Gastric	stomach
39	chr6:106808000-106808200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr6:106808000-106808200	Flanking Active TSS	Hela-S3	cervix
41	chr6:106808000-106808200	Bivalent Enhancer	HUVEC	blood vessel
42	chr6:106808000-106808200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
43	chr6:106808000-106808400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:106808000-106808400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:106808000-106808400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:106808000-106808400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
47	chr6:106808000-106808400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:106808000-106808400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr6:106808000-106808400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr6:106808000-106808400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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