Variant report

Variant	rs7176594
Chromosome Location	chr15:30075536-30075537
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10152681	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10775231	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs11073218	1.00[JPT][hapmap]
rs12438925	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12440211	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12441554	0.82[ASN][1000 genomes]
rs1383315	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1480503	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552077	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1585900	0.89[CEU][hapmap];0.80[AMR][1000 genomes]
rs1679647	0.82[ASN][1000 genomes]
rs17750802	0.86[CHB][hapmap]
rs1871678	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2032	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2229518	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2306437	0.86[CHB][hapmap]
rs2337167	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs260531	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs260532	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs260533	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs260534	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs260535	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs260538	0.85[ASN][1000 genomes]
rs28675809	0.86[ASN][1000 genomes]
rs2878893	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2878905	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3809503	0.86[CHB][hapmap]
rs4073316	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4362339	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4779670	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4780258	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4780259	0.89[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4780260	0.89[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4780263	0.85[ASN][1000 genomes]
rs6495914	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495927	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6495935	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6495945	0.90[CEU][hapmap]
rs7168919	0.83[CEU][hapmap]
rs7170406	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7171815	0.89[ASN][1000 genomes]
rs7176476	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7180387	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs767514	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs785445	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8023974	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8027827	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
2	chr15:30052600-30089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:30058600-30092200	Weak transcription	Esophagus	oesophagus
4	chr15:30058600-30106000	Weak transcription	Gastric	stomach
5	chr15:30059800-30086200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:30060800-30076800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:30062800-30096600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:30063800-30076800	Weak transcription	Fetal Kidney	kidney
9	chr15:30063800-30096000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:30063800-30096800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:30064000-30085600	Weak transcription	Fetal Stomach	stomach
12	chr15:30064000-30085800	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:30064400-30083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:30065200-30103400	Weak transcription	Placenta	Placenta
15	chr15:30065600-30085400	Weak transcription	Fetal Intestine Large	intestine
16	chr15:30065600-30090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:30065600-30094400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:30065600-30094400	Weak transcription	Fetal Intestine Small	intestine
19	chr15:30065600-30108200	Weak transcription	Pancreas	Pancrea
20	chr15:30067400-30097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:30067600-30080600	Weak transcription	NHLF	lung
22	chr15:30067800-30075800	Weak transcription	HUVEC	blood vessel
23	chr15:30067800-30076600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:30067800-30076800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:30068600-30076800	Weak transcription	Osteobl	bone
26	chr15:30069400-30075600	Weak transcription	NHEK	skin
27	chr15:30069600-30076600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:30071200-30080600	Weak transcription	Liver	Liver
29	chr15:30071200-30090000	Weak transcription	Adipose Nuclei	Adipose
30	chr15:30071600-30075600	Weak transcription	Left Ventricle	heart
31	chr15:30071600-30077200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:30071800-30077200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:30071800-30077400	Weak transcription	Brain Angular Gyrus	brain
34	chr15:30071800-30077400	Weak transcription	Psoas Muscle	Psoas
35	chr15:30071800-30081400	Weak transcription	Fetal Heart	heart
36	chr15:30071800-30097600	Weak transcription	K562	blood
37	chr15:30072200-30075800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:30072200-30077400	Weak transcription	Brain Anterior Caudate	brain
39	chr15:30072400-30076800	Weak transcription	HSMM	muscle
40	chr15:30072400-30085400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:30072800-30077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:30072800-30077400	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:30072800-30078800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:30072800-30085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:30072800-30089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:30072800-30090000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:30072800-30091200	Weak transcription	Lung	lung
48	chr15:30072800-30092800	Weak transcription	Right Atrium	heart
49	chr15:30073000-30085600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr15:30073200-30076800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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