Variant report

Variant	rs10251272
Chromosome Location	chr7:33300924-33300925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33299351..33301852-chr7:33302490..33303993,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10253342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10254276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10265926	0.88[EUR][1000 genomes]
rs10268593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273634	1.00[CEU][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs10280367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10486521	0.84[CEU][hapmap]
rs10486524	0.90[CEU][hapmap];0.96[CHD][hapmap];0.80[MEX][hapmap]
rs12666246	0.81[CHB][hapmap]
rs12667345	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12668888	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12668971	0.83[GIH][hapmap]
rs12670765	0.81[CHB][hapmap]
rs12673354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420149	0.90[CEU][hapmap]
rs1420150	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17170170	0.88[EUR][1000 genomes]
rs17170176	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs17394546	0.90[CEU][hapmap]
rs17398251	0.84[CEU][hapmap]
rs17473365	0.84[CEU][hapmap]
rs17475325	0.84[CEU][hapmap]
rs17475728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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]
rs17476738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2110767	1.00[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs28560342	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779241	0.81[CHB][hapmap]
rs4341064	0.80[ASN][1000 genomes]
rs4720108	0.90[CEU][hapmap]
rs58069881	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59066744	0.83[ASN][1000 genomes]
rs6462470	0.90[CHB][hapmap];0.82[CHD][hapmap]
rs6952538	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs6979138	0.81[CHB][hapmap]
rs73097268	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73097281	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7777122	0.81[CHB][hapmap]
rs7777332	0.83[GIH][hapmap]
rs7806498	0.90[CHB][hapmap];0.87[CHD][hapmap];0.80[ASN][1000 genomes]
rs9791453	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10251272	CRHR2	cis	cerebellum	SCAN
rs10251272	NPSR1	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33283800-33316000	Weak transcription	Ovary	ovary
2	chr7:33288800-33317600	Weak transcription	Gastric	stomach
3	chr7:33289400-33309000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:33289600-33310800	Weak transcription	Psoas Muscle	Psoas
5	chr7:33290000-33316200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:33290800-33309000	Weak transcription	Fetal Stomach	stomach
7	chr7:33290800-33316400	Weak transcription	Aorta	Aorta
8	chr7:33291200-33316000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:33291600-33305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:33291800-33307600	Weak transcription	Left Ventricle	heart
11	chr7:33293400-33302200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:33297400-33310800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:33298200-33301200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:33298600-33301400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:33298800-33301400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:33298800-33302200	Weak transcription	NHDF-Ad	bronchial
17	chr7:33300000-33301600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:33300200-33301800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:33300400-33301200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr7:33300400-33309800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:33300600-33301000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:33300600-33302600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:33300600-33303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:33300800-33301000	Enhancers	Fetal Lung	lung
25	chr7:33300800-33301200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:33300800-33301600	Enhancers	Osteobl	bone
27	chr7:33300800-33302200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:33300800-33302200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:33300800-33302400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:33300800-33302600	Enhancers	HUES48 Cell Line	embryonic stem cell

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