Variant report

Variant	rs2215786
Chromosome Location	chr7:120660730-120660731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120658657..120661112-chr7:120743405..120745049,2	K562	blood:
2	chr7:120659278..120662150-chr7:120687240..120689583,2	K562	blood:
3	chr7:120660560..120662573-chr7:120715794..120718811,3	K562	blood:
4	chr7:120590701..120592712-chr7:120659058..120661712,2	K562	blood:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10229719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258025	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11363	0.82[EUR][1000 genomes]
rs12672149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13881	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs193727	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2013083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013087	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074576	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2074577	0.85[CEU][hapmap]
rs2215789	0.92[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2244863	0.85[CEU][hapmap]
rs2244865	0.85[CEU][hapmap]
rs2525711	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525712	0.85[CEU][hapmap]
rs2525713	0.85[CEU][hapmap]
rs2525714	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs2525715	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2525716	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525717	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525718	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525719	0.90[CEU][hapmap]
rs2525720	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525722	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525723	0.81[EUR][1000 genomes]
rs2525724	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525725	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs2525726	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2525728	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs2525731	0.86[EUR][1000 genomes]
rs2525732	0.84[EUR][1000 genomes]
rs2525733	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs2525734	1.00[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs2525735	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2525738	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2525739	1.00[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2525740	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2721350	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2721351	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2721359	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2721361	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2721366	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2721368	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs2721370	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs2721372	0.90[CEU][hapmap]
rs2896299	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3944026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41688	0.85[CEU][hapmap]
rs41691	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41692	1.00[CEU][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41693	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41694	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41695	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41697	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41698	0.93[ASN][1000 genomes]
rs41703	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41704	1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4727915	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730985	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730987	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953795	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966297	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6973457	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];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789501	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808535	0.92[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong 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	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2215786	TSPAN12	cis	Artery Tibial	GTEx
rs2215786	SPAM1	cis	parietal	SCAN
rs2215786	FLJ21986	cis	multi-tissue	Pritchard

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120649400-120663600	Weak transcription	Left Ventricle	heart
3	chr7:120652800-120663800	Weak transcription	Small Intestine	intestine
4	chr7:120653400-120663600	Weak transcription	Psoas Muscle	Psoas
5	chr7:120654800-120663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:120656000-120663600	Weak transcription	Ovary	ovary
7	chr7:120656000-120668000	Weak transcription	Right Atrium	heart
8	chr7:120656400-120661800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:120656400-120661800	Enhancers	Osteobl	bone
10	chr7:120656600-120661000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:120656600-120661400	Genic enhancers	HSMM	muscle
12	chr7:120657000-120663600	Enhancers	Hela-S3	cervix
13	chr7:120657400-120661800	Enhancers	Adipose Nuclei	Adipose
14	chr7:120657800-120661000	Weak transcription	Fetal Kidney	kidney
15	chr7:120657800-120663600	Weak transcription	Aorta	Aorta
16	chr7:120657800-120666400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:120658000-120660800	Weak transcription	Fetal Stomach	stomach
18	chr7:120658000-120663600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:120658000-120665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:120658600-120661000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:120658600-120661600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:120659000-120661200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:120659000-120662200	Enhancers	NHLF	lung
24	chr7:120659200-120661000	Enhancers	HSMMtube	muscle
25	chr7:120659400-120661200	Enhancers	NH-A	brain
26	chr7:120659600-120660800	Weak transcription	Fetal Lung	lung
27	chr7:120659600-120660800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:120659600-120661200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:120659600-120661800	Enhancers	NHDF-Ad	bronchial
30	chr7:120659600-120663000	Weak transcription	Fetal Heart	heart
31	chr7:120659600-120663200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:120659800-120661800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:120659800-120662000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:120659800-120662000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:120659800-120662000	Enhancers	HUVEC	blood vessel
36	chr7:120659800-120663800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:120660000-120660800	Weak transcription	Liver	Liver
38	chr7:120660000-120662600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:120660200-120660800	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:120660400-120662400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:120660400-120664200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:120660600-120661600	Strong transcription	K562	blood
43	chr7:120660600-120663200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr7:120660600-120663400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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