Variant report

Variant	rs173214
Chromosome Location	chr15:59160188-59160189
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	POLR2A	chr15:59159223-59160261	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:59159460-59160437	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:59159148-59160400	HepG2	liver:	n/a	n/a
4	HEY1	chr15:59159755-59160357	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:59159747-59160288	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59158497..59160419-chr15:59185793..59188060,2	K562	blood:

Variant related genes	Relation type
ENSG00000259353	TF binding region
ENSG00000242747	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10162821	0.88[ASN][1000 genomes]
rs10518991	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10518992	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1078001	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1092172	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11071400	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11071401	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11630160	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11631540	0.90[CEU][hapmap]
rs11636723	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11637077	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11856640	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11858989	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12148858	0.87[ASN][1000 genomes]
rs12438918	0.82[EUR][1000 genomes]
rs12438961	0.86[EUR][1000 genomes]
rs12440904	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12443436	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12595482	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12708456	0.86[ASN][1000 genomes]
rs12910580	0.90[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap]
rs12914723	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12916751	0.82[ASN][1000 genomes]
rs1446240	0.85[CEU][hapmap]
rs17302038	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17302045	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2013117	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270664	0.82[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2279719	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28473013	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28529423	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28538484	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28641638	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28709922	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3145	0.82[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[ASN][1000 genomes]
rs35477914	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431414	0.94[CEU][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs4328375	0.90[CEU][hapmap]
rs4774315	0.80[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4775101	0.82[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.84[ASN][1000 genomes]
rs592407	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs604057	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs637918	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs677933	0.95[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67851431	0.88[ASN][1000 genomes]
rs694918	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407077	0.88[ASN][1000 genomes]
rs7173317	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8029301	0.85[CEU][hapmap]
rs8035628	0.90[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs813219	0.92[EUR][1000 genomes]
rs813220	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
3	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1035640	chr15:59105360-59190930	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	48 gene(s)	inside rSNPs	diseases
7	nsv977720	chr15:59157444-59165373	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59120000-59169000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:59145000-59166600	Weak transcription	HSMMtube	muscle
3	chr15:59147200-59169000	Weak transcription	K562	blood
4	chr15:59147600-59174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:59148000-59168600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:59148000-59169000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:59151200-59165400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:59154600-59170200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:59157200-59168600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:59157400-59168800	Weak transcription	Brain Angular Gyrus	brain
11	chr15:59157400-59170400	Weak transcription	Aorta	Aorta
12	chr15:59157600-59169000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:59157600-59169400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:59157600-59169400	Weak transcription	Brain Germinal Matrix	brain
15	chr15:59157600-59170200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:59157600-59170200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:59157600-59170200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:59157600-59170200	Weak transcription	Fetal Brain Female	brain
19	chr15:59157800-59169000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:59157800-59169400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:59157800-59169400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:59157800-59170000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:59157800-59170200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:59157800-59170200	Weak transcription	Primary T cells from cord blood	blood
25	chr15:59157800-59170400	Weak transcription	Primary B cells from cord blood	blood
26	chr15:59157800-59170400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:59157800-59172600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:59158000-59162600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:59158000-59162600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:59158000-59165400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:59158000-59165600	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:59158000-59167600	Weak transcription	Thymus	Thymus
33	chr15:59158000-59168400	Weak transcription	Gastric	stomach
34	chr15:59158000-59168400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:59158000-59168800	Weak transcription	Adipose Nuclei	Adipose
36	chr15:59158000-59169000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:59158000-59169000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:59158000-59169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:59158000-59170000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr15:59158000-59170000	Weak transcription	Liver	Liver
41	chr15:59158000-59170000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:59158000-59170200	Weak transcription	Left Ventricle	heart
43	chr15:59158000-59170400	Weak transcription	Fetal Lung	lung
44	chr15:59158000-59170400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:59158000-59170600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:59158000-59171800	Weak transcription	Right Ventricle	heart
47	chr15:59158200-59165000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:59158200-59168200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:59158200-59168200	Weak transcription	Fetal Thymus	thymus
50	chr15:59158200-59168400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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