Variant report

Variant	rs10487157
Chromosome Location	chr7:100214487-100214488
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100174507..100177302-chr7:100214206..100215879,2	K562	blood:
2	chr7:100206101..100213131-chr7:100214394..100226559,23	K562	blood:
3	chr7:100214214..100216850-chr7:100218753..100220305,2	K562	blood:
4	chr7:100209575..100212688-chr7:100214028..100216849,3	MCF-7	breast:
5	chr7:100214319..100217158-chr7:100217696..100220266,2	MCF-7	breast:
6	chr7:100214198..100216204-chr7:100286862..100289349,2	K562	blood:
7	chr7:100209889..100213905-chr7:100214080..100218119,4	MCF-7	breast:
8	chr7:100214062..100216204-chr7:100286862..100289990,3	K562	blood:
9	chr7:100207856..100215304-chr7:100235701..100242038,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146830	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10953298	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10953301	0.81[CHB][hapmap]
rs11520986	0.81[CHB][hapmap];0.85[MEX][hapmap]
rs11764045	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766643	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11767547	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11770389	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11974395	0.81[CHB][hapmap];0.84[MEX][hapmap]
rs11979818	0.85[MEX][hapmap]
rs11983334	0.84[MEX][hapmap]
rs11983745	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12532878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227444	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075671	0.89[MEX][hapmap]
rs2075672	0.86[JPT][hapmap]
rs2075674	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2231170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2231172	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap]
rs2272572	0.81[CHB][hapmap]
rs28584500	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41303510	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4727459	0.81[CHB][hapmap];0.85[MEX][hapmap]
rs4729597	0.86[JPT][hapmap]
rs4729601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs4729602	0.81[CHB][hapmap];0.89[MEX][hapmap]
rs4729606	0.80[MEX][hapmap]
rs62482237	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62482238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62482239	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62482242	0.86[AMR][1000 genomes]
rs6958696	0.84[AMR][1000 genomes]
rs6969584	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6969697	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73156234	0.84[AMR][1000 genomes]
rs73407376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7385804	0.86[JPT][hapmap]
rs7457024	0.98[ASN][1000 genomes]
rs7786877	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7812123	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7812235	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
3	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
4	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
5	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases
10	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10487157	POLR2J	cis	parietal	SCAN
rs10487157	MOSPD3	cis	Whole Blood	GTEx
rs10487157	PERQ1	cis	multi-tissue	Pritchard
rs10487157	MOSPD3	cis	multi-tissue	Pritchard
rs10487157	SERPINE1	cis	cerebellum	SCAN
rs10487157	EPHB4	cis	multi-tissue	Pritchard
rs10487157	FAM185A	cis	cerebellum	SCAN
rs10487157	DLX5	cis	cerebellum	SCAN
rs10487157	LHFPL3	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100210600-100224400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:100211000-100217400	Weak transcription	Aorta	Aorta
3	chr7:100211000-100217400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:100211000-100223800	Weak transcription	Fetal Kidney	kidney
5	chr7:100211000-100224600	Weak transcription	Small Intestine	intestine
6	chr7:100211200-100214600	Weak transcription	Right Atrium	heart
7	chr7:100211200-100215400	Weak transcription	Fetal Intestine Large	intestine
8	chr7:100211200-100215400	Weak transcription	Hela-S3	cervix
9	chr7:100211200-100218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:100211200-100221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:100211200-100221800	Weak transcription	HSMMtube	muscle
12	chr7:100211200-100223800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:100211200-100224000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:100211200-100224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:100211200-100224000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:100211200-100224000	Weak transcription	Brain Angular Gyrus	brain
17	chr7:100211200-100224000	Weak transcription	Lung	lung
18	chr7:100211200-100224000	Weak transcription	Psoas Muscle	Psoas
19	chr7:100211200-100224000	Weak transcription	Right Ventricle	heart
20	chr7:100211200-100224400	Weak transcription	Left Ventricle	heart
21	chr7:100211400-100215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:100211400-100218000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:100211400-100218000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:100211400-100218000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:100211400-100218200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:100211400-100220800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:100211400-100221800	Weak transcription	Esophagus	oesophagus
28	chr7:100211400-100223400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:100211400-100223800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:100211400-100224000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:100211400-100224000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:100211400-100224000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:100211400-100224000	Weak transcription	Colonic Mucosa	Colon
34	chr7:100211400-100224000	Weak transcription	HSMM	muscle
35	chr7:100211400-100224000	Weak transcription	HUVEC	blood vessel
36	chr7:100211400-100224600	Weak transcription	Spleen	Spleen
37	chr7:100211400-100230400	Weak transcription	Pancreas	Pancrea
38	chr7:100211600-100214600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:100211600-100216000	Strong transcription	Fetal Stomach	stomach
40	chr7:100211600-100219200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:100211600-100220200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:100211800-100215200	Weak transcription	Adipose Nuclei	Adipose
43	chr7:100211800-100217800	Weak transcription	Liver	Liver
44	chr7:100211800-100218000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:100211800-100223800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:100211800-100223800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:100211800-100224000	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:100212000-100214600	Weak transcription	Primary B cells from cord blood	blood
49	chr7:100212000-100215600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:100212000-100216400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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