Variant report

Variant	rs10247300
Chromosome Location	chr7:40344782-40344783
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	chr7:40344397..40346549-chr7:40349560..40351479,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10224001	0.84[ASN][1000 genomes]
rs10227273	0.84[ASN][1000 genomes]
rs10227399	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs10231582	0.82[ASN][1000 genomes]
rs10231838	0.82[ASN][1000 genomes]
rs10231959	0.82[ASN][1000 genomes]
rs10237281	0.84[ASN][1000 genomes]
rs10245165	0.84[ASN][1000 genomes]
rs10251283	0.81[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs10258258	0.87[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs10260853	0.81[ASN][1000 genomes]
rs10266351	0.81[ASN][1000 genomes]
rs10266722	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10270125	0.87[CHB][hapmap];0.89[CHD][hapmap];0.84[ASN][1000 genomes]
rs10270438	0.87[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs10278370	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs10280605	0.82[ASN][1000 genomes]
rs10951630	0.80[ASN][1000 genomes]
rs10951633	0.86[CHD][hapmap];0.80[ASN][1000 genomes]
rs11764459	0.80[ASN][1000 genomes]
rs11766698	0.82[ASN][1000 genomes]
rs11773447	0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs11773663	0.80[ASN][1000 genomes]
rs12669315	0.84[CHD][hapmap]
rs12701807	0.86[YRI][hapmap]
rs12701810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12701812	0.87[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12701815	0.89[CHD][hapmap]
rs12701816	0.80[YRI][hapmap]
rs13227773	0.84[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs17171672	0.80[ASN][1000 genomes]
rs1948791	0.87[CHD][hapmap];0.80[ASN][1000 genomes]
rs2422303	0.83[ASN][1000 genomes]
rs28477494	0.83[ASN][1000 genomes]
rs28637571	0.83[ASN][1000 genomes]
rs2901707	0.80[ASN][1000 genomes]
rs3897941	0.86[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3980358	0.80[ASN][1000 genomes]
rs4129802	0.91[ASW][hapmap];0.86[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs4398808	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs4433031	0.80[ASN][1000 genomes]
rs4480017	0.81[ASN][1000 genomes]
rs4571645	0.90[ASN][1000 genomes]
rs4637704	0.91[ASW][hapmap];0.86[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4723935	0.84[JPT][hapmap]
rs4723936	0.91[CHD][hapmap]
rs4723938	0.84[CHD][hapmap]
rs4723946	0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs57575441	0.80[ASN][1000 genomes]
rs6462968	0.84[LWK][hapmap]
rs6462970	0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs6946123	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6960480	0.87[CHD][hapmap];0.80[ASN][1000 genomes]
rs6961146	0.80[ASN][1000 genomes]
rs6962341	0.87[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6964864	0.91[CHD][hapmap]
rs6967242	0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6969419	0.91[CHD][hapmap]
rs6979118	0.83[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs756328	0.91[CHD][hapmap]
rs7791590	0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs7802836	0.87[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs952750	0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs9638951	0.84[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:17 , 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	chr7:40342000-40345000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:40343000-40347200	Enhancers	HUVEC	blood vessel
6	chr7:40343000-40348000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:40344000-40345000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:40344400-40345800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:40344400-40347400	Enhancers	Osteobl	bone
10	chr7:40344400-40348000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:40344600-40344800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:40344600-40344800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:40344600-40344800	Enhancers	Aorta	Aorta
14	chr7:40344600-40345200	Enhancers	HSMMtube	muscle
15	chr7:40344600-40345400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:40344600-40347200	Enhancers	HSMM	muscle
17	chr7:40344600-40347200	Enhancers	NH-A	brain

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