Variant report

Variant	rs4707872
Chromosome Location	chr6:71667012-71667013
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	MAX	chr6:71665007-71667309	H1-hESC	embryonic stem cell:	n/a	chr6:71666796-71666806
2	REST	chr6:71665188-71667576	H1-neurons	neurons:	n/a	chr6:71666201-71666210 chr6:71666241-71666259 chr6:71665355-71665368 chr6:71666194-71666207 chr6:71666243-71666256 chr6:71666190-71666210 chr6:71665351-71665371 chr6:71666197-71666210 chr6:71666240-71666260 chr6:71666240-71666260 chr6:71666240-71666249 chr6:71665351-71665371
3	POLR2A	chr6:71666579-71667396	H1-neurons	neurons:	n/a	n/a
4	BACH1	chr6:71666632-71667239	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr6:71666800-71667317	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF263	chr6:71665325-71667404	HEK293-T-REx	kidney:	n/a	n/a
7	SIN3A	chr6:71666765-71667253	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr6:71664812-71667330	H1-hESC	embryonic stem cell:	n/a	chr6:71666209-71666219 chr6:71666385-71666397 chr6:71666798-71666807 chr6:71666450-71666457 chr6:71666445-71666452 chr6:71666445-71666452 chr6:71665499-71665511 chr6:71666445-71666452 chr6:71666414-71666423 chr6:71666889-71666898
9	CTCF	chr6:71667000-71667150	HEEpiC	esophagus:	n/a	n/a
10	RAD21	chr6:71666698-71667208	H1-hESC	embryonic stem cell:	n/a	chr6:71666998-71667011
11	USF2	chr6:71666980-71667260	H1-hESC	embryonic stem cell:	n/a	chr6:71667095-71667116
12	CTCF	chr6:71665160-71667037	SK-N-SH	brain:	n/a	chr6:71665187-71665195
13	POLR2A	chr6:71666556-71667375	H1-neurons	neurons:	n/a	n/a
14	CTBP2	chr6:71665240-71667308	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
B3GAT2	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10945273	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10945274	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62420336	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62420338	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62420339	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886148	chr6:71623253-71694742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3339485	chr6:71665256-71667804	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71663800-71667200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:71663800-71667600	Active TSS	Brain Anterior Caudate	brain
3	chr6:71664200-71667600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:71664600-71667400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:71664800-71667200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:71664800-71667400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:71664800-71667400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:71664800-71667800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr6:71665000-71667400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:71665000-71667600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:71665000-71667600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:71665200-71667200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:71665200-71667200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
17	chr6:71665200-71667200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:71665200-71667200	Flanking Active TSS	Pancreas	Pancrea
19	chr6:71665200-71667200	Bivalent/Poised TSS	HSMM	muscle
20	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:71665200-71667400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr6:71665200-71667400	Active TSS	Brain Angular Gyrus	brain
26	chr6:71665200-71667400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr6:71665400-71667200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
28	chr6:71665400-71667200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:71665400-71667200	Bivalent/Poised TSS	HSMMtube	muscle
30	chr6:71665400-71667200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
31	chr6:71665400-71667400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:71665400-71667400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:71665400-71667400	Bivalent/Poised TSS	NHLF	lung
34	chr6:71665600-71667400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
35	chr6:71665600-71667600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:71665800-71667200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:71665800-71667200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:71666000-71667200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr6:71666000-71667400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr6:71666200-71667200	Flanking Active TSS	Ovary	ovary
41	chr6:71666200-71667200	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr6:71666200-71667400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr6:71666200-71667400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
44	chr6:71666200-71667400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:71666400-71667200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:71666400-71667200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:71666400-71667200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
48	chr6:71666400-71667200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr6:71666400-71667200	Bivalent/Poised TSS	Osteobl	bone
50	chr6:71666400-71667400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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