Variant report

Variant	rs9470217
Chromosome Location	chr6:36063141-36063142
allele	C/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	JUND	chr6:36062955-36063310	K562	blood:	n/a	n/a
2	POU2F2	chr6:36062870-36063252	GM12878	blood:	n/a	chr6:36063051-36063060 chr6:36063048-36063063 chr6:36063050-36063060 chr6:36063052-36063059 chr6:36063051-36063062 chr6:36063050-36063060 chr6:36063049-36063061
3	CTCF	chr6:36063020-36063170	GM12864	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
4	CTCF	chr6:36063060-36063210	A549	lung:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
5	CTCF	chr6:36063060-36063210	HCPEpiC	choroid plexus:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
6	POLR2A	chr6:36062853-36063271	MCF-7	breast:	n/a	n/a
7	MAX	chr6:36062916-36063298	K562	blood:	n/a	n/a
8	ZNF143	chr6:36062733-36063313	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr6:36062961-36063319	K562	blood:	n/a	n/a
10	CTCF	chr6:36063060-36063210	Hela-S3	cervix:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
11	MAX	chr6:36062908-36063329	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:36063001-36063290	Fibrobl	skin:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
13	CTCF	chr6:36063060-36063210	GM12875	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
14	CTCF	chr6:36062958-36063263	HUVEC	blood vessel:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
15	MAX	chr6:36062878-36063350	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr6:36063006-36063276	K562	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
17	RAD21	chr6:36062876-36063394	A549	lung:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063127-36063141
18	BRCA1	chr6:36062972-36063337	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr6:36062942-36063322	GM12878	blood:	n/a	n/a
20	CTCF	chr6:36063020-36063282	GM10248	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
21	CTCF	chr6:36063060-36063210	HEEpiC	esophagus:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
22	CTCF	chr6:36063080-36063230	GM12871	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
23	CTCF	chr6:36063080-36063230	HAc	cerebellar:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
24	E2F4	chr6:36062861-36063168	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr6:36062999-36063289	GM12892	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
26	CTCF	chr6:36063020-36063170	HVMF	connective:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
27	STAT1	chr6:36062952-36063287	GM12878	blood:	n/a	n/a
28	CTCF	chr6:36062740-36063458	HCT-116	colon:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063445-36063453 chr6:36063127-36063140
29	CTCF	chr6:36063060-36063210	AoAF	blood vessel:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
30	BHLHE40	chr6:36062967-36063270	K562	blood:	n/a	n/a
31	MAX	chr6:36062921-36063313	NB4	blood:	n/a	n/a
32	CTCF	chr6:36063040-36063190	HRE	kidney:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
33	CTCF	chr6:36063060-36063210	HEK293	kidney:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
34	RAD21	chr6:36062912-36063431	MCF-7	breast:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063405-36063417 chr6:36063127-36063141
35	CTCF	chr6:36063100-36063250	HCT-116	colon:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
36	CTCF	chr6:36063060-36063210	AG10803	skin:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
37	CTCF	chr6:36063060-36063210	AG04449	skin:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
38	SMC3	chr6:36062464-36063618	SK-N-SH	brain:	n/a	chr6:36063127-36063141
39	CTCF	chr6:36063060-36063210	BJ	skin:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
40	CTCF	chr6:36063080-36063230	HBMEC	blood vessel:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
41	CTCF	chr6:36062962-36063312	Spleen_OC	spleen:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
42	CTCF	chr6:36063012-36063278	MCF-7	breast:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
43	MYC	chr6:36062953-36063285	MCF10A-Er-Src	breast:	n/a	n/a
44	CTCF	chr6:36062920-36063319	T-47D	breast:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
45	RAD21	chr6:36062904-36063332	Hela-S3	cervix:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063127-36063141
46	RAD21	chr6:36062739-36063407	HCT-116	colon:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063127-36063141
47	CTCF	chr6:36062955-36063242	A549	lung:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
48	CTCF	chr6:36063060-36063210	GM12874	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
49	CTCF	chr6:36063060-36063210	HCFaa	heart:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
50	ELK1	chr6:36062913-36063205	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:
2	chr6:35994574..35998335-chr6:36060182..36063184,5	MCF-7	breast:
3	chr6:35991723..35998793-chr6:36060568..36068863,14	K562	blood:
4	chr6:35995438..35997054-chr6:36061422..36063465,2	MCF-7	breast:
5	chr6:35994867..35996026-chr6:36062591..36063691,9	MCF-7	breast:
6	chr6:35994808..35995783-chr6:36062478..36063591,11	K562	blood:
7	chr6:35916215..35917179-chr6:36062605..36063500,2	K562	blood:
8	chr6:36057741..36060174-chr6:36061007..36064556,3	MCF-7	breast:
9	chr6:36005324..36007275-chr6:36062983..36064976,2	K562	blood:
10	chr6:35994890..35995702-chr6:36062682..36063239,4	MCF-7	breast:
11	chr12:56519685..56520626-chr6:36062705..36063371,2	MCF-7	breast:
12	chr6:36043515..36044407-chr6:36062711..36063511,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237719	TF binding region
ENSG00000112053	Chromatin interaction
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2237095	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2815805	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2859144	1.00[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs584884	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58604706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs596446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs603869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs611846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs612049	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61764190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620491	1.00[EUR][1000 genomes]
rs620493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs626386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs686431	1.00[EUR][1000 genomes]
rs6908372	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6940239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7742178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7750653	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7764721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768950	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768956	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7770710	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7774786	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7774934	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9348984	1.00[CEU][hapmap]
rs9462156	1.00[CEU][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462157	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9470200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470207	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36051400-36063400	Weak transcription	HUVEC	blood vessel
3	chr6:36051600-36067600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:36051600-36088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:36051800-36070600	Weak transcription	Pancreas	Pancrea
6	chr6:36051800-36070600	Weak transcription	Psoas Muscle	Psoas
7	chr6:36051800-36070800	Weak transcription	Aorta	Aorta
8	chr6:36051800-36075800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:36052000-36063800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:36052000-36070600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:36052000-36070600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:36052000-36070600	Weak transcription	NHLF	lung
13	chr6:36052000-36070800	Weak transcription	Esophagus	oesophagus
14	chr6:36052000-36075200	Weak transcription	Right Ventricle	heart
15	chr6:36052200-36067400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:36052200-36070600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:36052200-36070800	Weak transcription	Gastric	stomach
18	chr6:36052200-36071400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:36052400-36063800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:36053200-36063400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:36058000-36063200	Weak transcription	HSMMtube	muscle
22	chr6:36060200-36063400	Weak transcription	Left Ventricle	heart
23	chr6:36060200-36063400	Weak transcription	Hela-S3	cervix
24	chr6:36060200-36063800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:36060200-36075000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:36060600-36063200	Weak transcription	Thymus	Thymus
27	chr6:36060600-36064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:36060600-36070600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:36060600-36071400	Weak transcription	Fetal Brain Female	brain
30	chr6:36060600-36080800	Weak transcription	Ovary	ovary
31	chr6:36060800-36063400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:36060800-36063800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:36060800-36067800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:36060800-36072000	Weak transcription	Brain Germinal Matrix	brain
35	chr6:36061000-36063600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:36061200-36063200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:36061200-36063400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:36061200-36063400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:36061200-36063400	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:36061200-36063400	Weak transcription	Lung	lung
41	chr6:36061200-36063400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:36061200-36063600	Weak transcription	Placenta	Placenta
43	chr6:36061200-36063800	Weak transcription	Spleen	Spleen
44	chr6:36061200-36068600	Weak transcription	Fetal Stomach	stomach
45	chr6:36061400-36063600	Weak transcription	Primary B cells from cord blood	blood
46	chr6:36062000-36063400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:36062000-36065400	Enhancers	Stomach Mucosa	stomach
48	chr6:36062000-36065600	Enhancers	Fetal Intestine Large	intestine
49	chr6:36062200-36063200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:36062200-36063200	Enhancers	Duodenum Mucosa	Duodenum

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