Variant report

Variant	rs34295894
Chromosome Location	chr7:11117908-11117909
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11108681..11111650-chr7:11117427..11119548,2	K562	blood:
2	chr7:11113760..11116450-chr7:11117895..11120001,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1029583	0.86[EUR][1000 genomes]
rs1029584	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10950334	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11975710	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224675	0.92[ASN][1000 genomes]
rs13232272	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483201	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1483202	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1483204	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1636756	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1640704	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1681290	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1681291	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17346506	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17347241	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs182594	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2110376	0.89[ASN][1000 genomes]
rs2190293	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs220089	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs220091	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs220094	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs220095	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs220096	0.84[EUR][1000 genomes]
rs220097	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2301959	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2353340	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2353341	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2353342	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625440	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2906564	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2906565	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2995902	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34166672	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34665460	0.90[EUR][1000 genomes]
rs35507980	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35580506	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35594158	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35648039	0.89[EUR][1000 genomes]
rs3801435	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3801441	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801444	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801449	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3801450	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3801451	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4370426	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62440480	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62440485	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6969350	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7782589	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789963	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7791995	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7803348	0.89[EUR][1000 genomes]
rs7806039	0.86[EUR][1000 genomes]
rs9639071	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9768601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
9	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv606194	chr7:11042905-11144078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv830901	chr7:11093455-11272219	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv916426	chr7:11095057-11201696	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv887603	chr7:11104985-11231727	Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11035800-11123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:11046000-11128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:11046600-11122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
6	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
7	chr7:11064400-11122800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:11076400-11193200	Weak transcription	Ovary	ovary
9	chr7:11076800-11122200	Weak transcription	HMEC	breast
10	chr7:11077000-11130600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:11077000-11162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:11078600-11122400	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:11086600-11143800	Weak transcription	HUVEC	blood vessel
14	chr7:11091800-11174200	Weak transcription	Left Ventricle	heart
15	chr7:11092600-11122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:11092600-11122600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:11094200-11122000	Weak transcription	HepG2	liver
18	chr7:11094600-11153400	Weak transcription	Hela-S3	cervix
19	chr7:11095600-11122800	Weak transcription	Brain Anterior Caudate	brain
20	chr7:11097400-11129000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:11098400-11122000	Weak transcription	A549	lung
22	chr7:11099800-11128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:11102200-11126200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:11102200-11189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:11102400-11121800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:11102400-11122400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:11102400-11122600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:11102400-11167800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:11102600-11121800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:11102600-11127000	Weak transcription	Primary B cells from cord blood	blood
31	chr7:11102600-11134200	Weak transcription	Adipose Nuclei	Adipose
32	chr7:11102600-11144000	Weak transcription	Liver	Liver
33	chr7:11102600-11161000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:11102600-11173200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:11102600-11173400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:11102600-11190400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:11103000-11189000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:11103600-11120200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:11103800-11118800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:11104800-11121800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:11105800-11125200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:11106800-11122200	Weak transcription	NH-A	brain
43	chr7:11107000-11124000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:11107400-11121800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:11107600-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
47	chr7:11107800-11161000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:11109000-11143800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:11112400-11134600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:11112600-11125000	Weak transcription	Primary hematopoietic stem cells	blood

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