Variant report

Variant	rs3732447
Chromosome Location	chr3:99357352-99357353
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	SIN3A	chr3:99356350-99357696	H1-hESC	embryonic stem cell:	n/a	chr3:99356873-99356882 chr3:99356825-99356836
2	POLR2A	chr3:99355815-99360014	HUVEC	blood vessel:	n/a	n/a
3	SRF	chr3:99357156-99357666	ECC-1	luminal epithelium:	n/a	chr3:99357305-99357315 chr3:99357402-99357417
4	POLR2A	chr3:99357320-99357653	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr3:99355631-99357863	U87	brain:	n/a	n/a
6	POLR2A	chr3:99355828-99358032	IMR90	lung:	n/a	n/a
7	STAT3	chr3:99357320-99357762	MCF10A-Er-Src	breast:	n/a	chr3:99357691-99357702
8	CTCF	chr3:99357280-99357430	HCPEpiC	choroid plexus:	n/a	n/a
9	POLR2A	chr3:99355628-99358881	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr3:99357046-99357697	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr3:99356573-99357805	Gliobla	brain:	n/a	n/a
12	POLR2A	chr3:99357320-99357589	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr3:99357146-99357569	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr3:99356017-99357895	HUVEC	blood vessel:	n/a	n/a
15	MYC	chr3:99357209-99357803	MCF10A-Er-Src	breast:	n/a	chr3:99357547-99357556
16	ZNF263	chr3:99357051-99357675	HEK293-T-REx	kidney:	n/a	n/a
17	TBP	chr3:99357250-99357631	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr3:99356391-99357664	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr3:99355570-99359960	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr3:99356148-99361614	ProgFib	skin:	n/a	n/a
21	EGR1	chr3:99356990-99357670	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr3:99357287-99357632	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr3:99355587-99364509	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr3:99356946-99357728	U87	brain:	n/a	n/a
25	E2F4	chr3:99357276-99357381	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr3:99355625-99357886	U87	brain:	n/a	n/a
27	CHD2	chr3:99357216-99357539	H1-hESC	embryonic stem cell:	n/a	chr3:99357303-99357313
28	RAD21	chr3:99356944-99357879	IMR90	lung:	n/a	n/a
29	ZNF143	chr3:99356741-99357673	H1-hESC	embryonic stem cell:	n/a	chr3:99356811-99356821
30	POLR2A	chr3:99357200-99357665	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr3:99355776-99359911	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr3:99357090-99357689	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr3:99357246-99357704	H1-neurons	neurons:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL8A1-3	chr3:99357319-99357508	NONHSAT090846
2	lnc-COL8A1-3	chr3:99357319-99357508	NONHSAT090847
3	lnc-COL8A1-3	chr3:99357319-99357508	NONHSAT090848

Variant related genes	Relation type
COL8A1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1567784	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16841561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16841568	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1818482	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3755596	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3755597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3755599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4928205	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4928206	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4928212	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4928213	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56773086	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58846871	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6780095	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72928493	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72928498	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930350	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72930363	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930368	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930370	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72932305	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72932315	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99354400-99362000	Active TSS	Aorta	Aorta
2	chr3:99355200-99357600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:99355400-99357400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr3:99355600-99357400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr3:99355600-99357400	Active TSS	Right Ventricle	heart
6	chr3:99355600-99357600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr3:99355600-99357600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:99355600-99357800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr3:99355600-99357800	Active TSS	Colon Smooth Muscle	Colon
10	chr3:99355600-99360600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:99355800-99357400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
12	chr3:99355800-99357400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
13	chr3:99355800-99357600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr3:99355800-99357600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr3:99355800-99357800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:99355800-99357800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr3:99355800-99358200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr3:99355800-99358600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr3:99355800-99358800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:99355800-99359400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:99355800-99360000	Active TSS	Right Atrium	heart
22	chr3:99356000-99357400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:99356000-99357400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
24	chr3:99356000-99357400	Active TSS	HMEC	breast
25	chr3:99356000-99357600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr3:99356000-99357600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:99356000-99357600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr3:99356000-99357600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr3:99356000-99357800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:99356000-99357800	Active TSS	Brain Cingulate Gyrus	brain
31	chr3:99356000-99357800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr3:99356000-99357800	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr3:99356000-99358000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr3:99356000-99358000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:99356000-99358000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:99356000-99358000	Active TSS	Brain Anterior Caudate	brain
37	chr3:99356000-99358000	Active TSS	NHEK	skin
38	chr3:99356000-99358200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:99356000-99358400	Active TSS	HSMM	muscle
40	chr3:99356000-99359000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:99356000-99359000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:99356000-99359000	Active TSS	NH-A	brain
43	chr3:99356000-99359200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:99356000-99359200	Active TSS	HSMMtube	muscle
45	chr3:99356000-99360400	Active TSS	NHDF-Ad	bronchial
46	chr3:99356000-99360600	Active TSS	Stomach Smooth Muscle	stomach
47	chr3:99356000-99360800	Active TSS	NHLF	lung
48	chr3:99356200-99357400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:99356200-99357400	Bivalent Enhancer	Placenta	Placenta
50	chr3:99356200-99357600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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