Variant report

Variant	rs10251283
Chromosome Location	chr7:40345654-40345655
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40345049..40347172-chr7:40349979..40352115,2	K562	blood:
2	chr7:40344397..40346549-chr7:40349560..40351479,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10224001	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227273	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10227399	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231582	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10231838	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10231959	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10237281	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245165	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10247300	0.81[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs10248078	0.86[ASN][1000 genomes]
rs10252609	0.86[ASN][1000 genomes]
rs10258258	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260853	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10261911	0.86[ASN][1000 genomes]
rs10262201	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10265671	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10265895	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10266351	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10266722	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10268749	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10268863	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270125	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270438	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278370	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280605	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951628	0.85[ASN][1000 genomes]
rs10951629	0.84[ASN][1000 genomes]
rs10951630	0.86[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10951633	0.86[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11762020	0.82[ASN][1000 genomes]
rs11763124	0.88[ASN][1000 genomes]
rs11764459	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11764497	0.84[ASN][1000 genomes]
rs11766698	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11773447	0.86[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11773663	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11977946	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12538240	0.89[ASN][1000 genomes]
rs12668394	0.86[ASN][1000 genomes]
rs12669315	0.81[CEU][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12701807	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12701810	0.81[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs12701812	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701815	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13227773	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13235040	0.80[ASN][1000 genomes]
rs13235423	0.84[ASN][1000 genomes]
rs13235432	0.84[ASN][1000 genomes]
rs13244588	0.86[ASN][1000 genomes]
rs13247751	0.86[ASN][1000 genomes]
rs13247974	0.86[ASN][1000 genomes]
rs17171668	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17171672	0.87[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1948791	0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329771	0.83[ASN][1000 genomes]
rs2422303	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28477494	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28637571	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2901707	0.86[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3897941	0.82[JPT][hapmap]
rs3980358	0.84[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4129802	0.86[JPT][hapmap]
rs4129803	0.82[CEU][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4398808	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4433031	0.86[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4478481	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4480017	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4571645	0.89[ASN][1000 genomes]
rs4585651	0.84[ASN][1000 genomes]
rs4637704	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4720355	0.85[ASN][1000 genomes]
rs4723935	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4723936	0.91[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4723938	0.81[CEU][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs4723946	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55648745	0.86[ASN][1000 genomes]
rs57205249	0.82[ASN][1000 genomes]
rs57575441	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58664838	0.82[ASN][1000 genomes]
rs61003774	0.82[ASN][1000 genomes]
rs6462966	0.84[ASN][1000 genomes]
rs6462967	0.86[CEU][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs6462970	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67382823	0.82[ASN][1000 genomes]
rs6944348	0.85[ASN][1000 genomes]
rs6946123	0.84[ASN][1000 genomes]
rs6946980	0.82[CEU][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs6955478	0.82[ASN][1000 genomes]
rs6956802	0.83[ASN][1000 genomes]
rs6960480	0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6961025	0.85[ASN][1000 genomes]
rs6961146	0.86[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6961151	0.85[ASN][1000 genomes]
rs6962341	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6963317	0.86[ASN][1000 genomes]
rs6964864	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6967242	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969419	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6979118	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73131776	0.82[ASN][1000 genomes]
rs756328	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7778070	0.88[ASN][1000 genomes]
rs7791590	0.86[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7798925	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7800400	0.87[ASN][1000 genomes]
rs7802836	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952750	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9638951	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639831	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs9639834	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv464438	chr7:40193535-40350887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv606710	chr7:40193535-40350887	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606711	chr7:40225129-40360257	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1033564	chr7:40273845-40417886	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv887986	chr7:40311382-40425140	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv949540	chr7:40321357-40528147	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv520748	chr7:40332518-40425140	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1017909	chr7:40337109-40427634	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40340000-40346400	Weak transcription	NHDF-Ad	bronchial
2	chr7:40340400-40346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:40340600-40346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:40343000-40347200	Enhancers	HUVEC	blood vessel
5	chr7:40343000-40348000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:40344400-40345800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:40344400-40347400	Enhancers	Osteobl	bone
8	chr7:40344400-40348000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:40344600-40347200	Enhancers	HSMM	muscle
10	chr7:40344600-40347200	Enhancers	NH-A	brain
11	chr7:40345000-40347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:40345200-40354800	Weak transcription	HSMMtube	muscle
13	chr7:40345600-40346600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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