Variant report

Variant	rs6853722
Chromosome Location	chr4:119684959-119684960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119679999..119681993-chr4:119684574..119686912,3	MCF-7	breast:
2	chr4:119682565..119685004-chr4:119691395..119693474,2	K562	blood:
3	chr4:119668266..119671163-chr4:119684905..119687302,2	K562	blood:
4	chr4:119663074..119665323-chr4:119683006..119685125,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11724866	0.87[EUR][1000 genomes]
rs11730728	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945703	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs12640223	0.87[EUR][1000 genomes]
rs12646268	0.85[EUR][1000 genomes]
rs12646298	0.86[EUR][1000 genomes]
rs12648682	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs12648778	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs13105145	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13105732	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13111664	0.87[EUR][1000 genomes]
rs13115157	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs13124091	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs13146440	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs13146816	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs13150663	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2029399	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2046779	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2288307	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087958	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs34091082	0.89[EUR][1000 genomes]
rs34270389	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34508500	0.89[EUR][1000 genomes]
rs34628947	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35023705	0.87[EUR][1000 genomes]
rs35071348	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392662	0.90[EUR][1000 genomes]
rs35404779	0.90[EUR][1000 genomes]
rs35522890	0.87[EUR][1000 genomes]
rs35613641	0.87[EUR][1000 genomes]
rs35952841	0.87[EUR][1000 genomes]
rs36023173	0.87[EUR][1000 genomes]
rs3733517	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs66500248	0.87[EUR][1000 genomes]
rs66942289	0.87[EUR][1000 genomes]
rs67151421	0.88[EUR][1000 genomes]
rs67989872	0.89[EUR][1000 genomes]
rs6813357	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs6814447	0.87[EUR][1000 genomes]
rs6817440	0.84[YRI][hapmap]
rs6817790	0.87[EUR][1000 genomes]
rs6818241	0.87[EUR][1000 genomes]
rs6821350	0.87[EUR][1000 genomes]
rs6827740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6829010	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6831197	0.87[EUR][1000 genomes]
rs6836005	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs6837652	0.87[EUR][1000 genomes]
rs6847706	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs6849714	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6852706	0.86[EUR][1000 genomes]
rs6855919	0.87[EUR][1000 genomes]
rs6857285	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs71610228	0.87[EUR][1000 genomes]
rs72679023	0.90[EUR][1000 genomes]
rs7653962	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7662650	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7666673	0.80[YRI][hapmap]
rs7670182	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7681835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692721	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs7695602	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs7696543	0.90[EUR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6853722	RP11-384K6.6	cis	Artery Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
3	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:119649200-119687600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:119649200-119693600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:119651800-119687400	Weak transcription	Thymus	Thymus
7	chr4:119654400-119687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:119659600-119690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:119660400-119688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:119660400-119689800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:119662000-119687600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:119662000-119694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:119665200-119687600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:119665800-119687400	Weak transcription	Spleen	Spleen
15	chr4:119668000-119689800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:119668200-119690200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:119673000-119687400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:119673000-119687400	Weak transcription	Pancreas	Pancrea
19	chr4:119673200-119687400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:119673400-119687400	Weak transcription	Fetal Thymus	thymus
21	chr4:119673400-119687600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:119673400-119688000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:119673400-119688600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:119673600-119685000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:119674000-119685200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:119675400-119685600	Strong transcription	NH-A	brain
27	chr4:119675400-119686600	Weak transcription	Brain Substantia Nigra	brain
28	chr4:119675600-119685400	Weak transcription	Aorta	Aorta
29	chr4:119675800-119686800	Weak transcription	Stomach Mucosa	stomach
30	chr4:119675800-119687800	Weak transcription	Psoas Muscle	Psoas
31	chr4:119677000-119688800	Genic enhancers	Osteobl	bone
32	chr4:119678000-119685000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:119678000-119685200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:119678000-119685400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:119678000-119689400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:119678200-119692000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:119678400-119687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:119678600-119685000	Weak transcription	Left Ventricle	heart
39	chr4:119678600-119687400	Weak transcription	Gastric	stomach
40	chr4:119678600-119687400	Weak transcription	Lung	lung
41	chr4:119678600-119687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:119678600-119687800	Weak transcription	Right Atrium	heart
43	chr4:119678600-119717400	Weak transcription	Esophagus	oesophagus
44	chr4:119679000-119687000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:119679000-119687600	Weak transcription	Fetal Intestine Small	intestine
46	chr4:119679000-119717600	Weak transcription	Colonic Mucosa	Colon
47	chr4:119680400-119693400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:119680600-119685600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:119680600-119685600	Enhancers	Fetal Stomach	stomach
50	chr4:119680600-119691800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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