Variant report

Variant	rs7845334
Chromosome Location	chr8:67024836-67024837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:67024820-67026378	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr8:67024835-67027107	GM12878	blood:	n/a	n/a
3	MAX	chr8:67024823-67025989	K562	blood:	n/a	n/a
4	POLR2A	chr8:67024695-67027343	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:67024651-67027117	HepG2	liver:	n/a	n/a
6	MAX	chr8:67024797-67027307	A549	lung:	n/a	n/a
7	ZBTB7A	chr8:67024799-67025108	HepG2	liver:	n/a	n/a
8	TBP	chr8:67024779-67027164	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:67024811-67026760	GM12892	blood:	n/a	n/a
10	POLR2A	chr8:67024720-67027147	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:67024787-67027092	GM12891	blood:	n/a	n/a
12	ZBTB7A	chr8:67024756-67025635	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr8:67024678-67025896	SK-N-MC	brain:	n/a	n/a
14	MAFK	chr8:67024725-67024841	HepG2	liver:	n/a	n/a
15	TAF1	chr8:67024829-67027166	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr8:67024827-67025344	HepG2	liver:	n/a	n/a
17	RAD21	chr8:67024815-67025157	HepG2	liver:	n/a	n/a
18	POLR2A	chr8:67024804-67025785	NB4	blood:	n/a	n/a
19	POLR2A	chr8:67024812-67025886	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr8:67024748-67026587	HepG2	liver:	n/a	n/a
21	SIN3A	chr8:67024821-67027080	H1-hESC	embryonic stem cell:	n/a	n/a
22	SREBP2	chr8:67024643-67027810	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:67024793-67026541	HepG2	liver:	n/a	n/a
24	REST	chr8:67024720-67027010	H1-neurons	neurons:	n/a	n/a
25	MTA3	chr8:67024833-67027053	GM12878	blood:	n/a	n/a
26	RUNX3	chr8:67024818-67026847	GM12878	blood:	n/a	n/a
27	TCF12	chr8:67024782-67027353	A549	lung:	n/a	chr8:67025396-67025403

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
2	chr8:67024747..67027371-chr8:67038783..67042182,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253190	TF binding region
ENSG00000147573	Chromatin interaction
ENSG00000246145	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000179041	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10092687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093091	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs10095931	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104916	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs10113208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113415	0.83[CEU][hapmap]
rs11986216	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11986805	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs11997416	0.87[YRI][hapmap]
rs11997605	0.83[CEU][hapmap]
rs12334408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264487	0.82[CEU][hapmap]
rs13266516	0.83[CEU][hapmap]
rs16932426	1.00[CHB][hapmap]
rs16932461	1.00[CHB][hapmap]
rs16932465	1.00[CHB][hapmap]
rs16932468	1.00[CHB][hapmap]
rs16932514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17306183	1.00[CHB][hapmap]
rs17307227	1.00[CHB][hapmap]
rs2357570	1.00[CHB][hapmap]
rs2357571	1.00[CHB][hapmap]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3176921	0.86[YRI][hapmap]
rs4262310	0.83[CEU][hapmap]
rs4366069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380923	1.00[CHB][hapmap]
rs4495409	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495411	1.00[CHB][hapmap]
rs4496952	1.00[ASN][1000 genomes]
rs4565445	1.00[CHB][hapmap]
rs5030877	0.87[YRI][hapmap]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472245	1.00[CHB][hapmap]
rs6472248	0.83[CEU][hapmap]
rs6472249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs6472255	0.87[YRI][hapmap]
rs6472256	0.87[YRI][hapmap]
rs6985796	1.00[CHB][hapmap]
rs6988195	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990624	0.87[YRI][hapmap]
rs6996265	0.87[YRI][hapmap]
rs6998761	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs7006334	1.00[CHB][hapmap]
rs7006394	1.00[CHB][hapmap]
rs7008359	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013524	0.86[YRI][hapmap]
rs73246516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7814933	1.00[CHB][hapmap]
rs7818219	1.00[CHB][hapmap]
rs7818902	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs7822243	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7824630	0.83[CEU][hapmap]
rs7826464	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs7827531	0.83[CEU][hapmap]
rs7830926	0.91[AFR][1000 genomes]
rs7834423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836993	1.00[CHB][hapmap]
rs7838500	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs7842707	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7842761	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs7843077	0.92[CEU][hapmap]
rs7843605	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs884839	0.83[CEU][hapmap]
rs9694082	0.86[YRI][hapmap];0.83[AFR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67024200-67025000	Enhancers	Fetal Heart	heart
2	chr8:67024400-67025000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:67024400-67027000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:67024400-67027200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:67024400-67028000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:67024600-67025000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr8:67024600-67025000	Enhancers	HMEC	breast
8	chr8:67024600-67025200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr8:67024600-67025200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr8:67024600-67025200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr8:67024600-67025400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:67024600-67025400	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:67024600-67025400	Flanking Active TSS	K562	blood
14	chr8:67024600-67025400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:67024600-67025600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr8:67024600-67026000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr8:67024600-67026000	Bivalent/Poised TSS	HepG2	liver
18	chr8:67024600-67026800	Active TSS	Brain Anterior Caudate	brain
19	chr8:67024600-67027000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:67024600-67027000	Active TSS	Fetal Brain Male	brain
21	chr8:67024600-67027200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr8:67024600-67027200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr8:67024600-67027200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:67024600-67027400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr8:67024600-67027400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:67024600-67027400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:67024600-67027400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:67024600-67027400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:67024600-67027600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr8:67024600-67027600	Active TSS	Fetal Brain Female	brain
31	chr8:67024800-67025000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:67024800-67025000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:67024800-67025000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:67024800-67025000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:67024800-67025000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:67024800-67025000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:67024800-67025000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:67024800-67025000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:67024800-67025000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:67024800-67025000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:67024800-67025000	Active TSS	Brain Hippocampus Middle	brain
42	chr8:67024800-67025000	Enhancers	Colon Smooth Muscle	Colon
43	chr8:67024800-67025000	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr8:67024800-67025000	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr8:67024800-67025000	Enhancers	Left Ventricle	heart
46	chr8:67024800-67025000	Flanking Active TSS	Lung	lung
47	chr8:67024800-67025000	Active TSS	Right Ventricle	heart
48	chr8:67024800-67025000	Enhancers	Stomach Mucosa	stomach
49	chr8:67024800-67025000	Active TSS	HSMM	muscle
50	chr8:67024800-67025000	Enhancers	HSMMtube	muscle

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