Variant report

Variant	rs6948947
Chromosome Location	chr7:40793720-40793721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40782318..40784724-chr7:40791485..40793846,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10499618	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12155167	1.00[JPT][hapmap]
rs17438725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17439106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs17439448	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17439553	1.00[CHB][hapmap]
rs17439595	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17529882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17530234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17621020	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17621117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17621508	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17688549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56243010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40786000-40793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:40786600-40794000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:40786600-40795200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:40787400-40793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:40787600-40795200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:40787800-40794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:40787800-40795200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:40787800-40802800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:40788800-40794200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:40789400-40802800	Weak transcription	Aorta	Aorta
11	chr7:40789600-40793800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:40789600-40794000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:40789600-40795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:40789800-40793800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:40789800-40794000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:40790000-40795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:40790000-40795000	Weak transcription	NHDF-Ad	bronchial
18	chr7:40790000-40802800	Weak transcription	HSMM	muscle
19	chr7:40790000-40802800	Weak transcription	HSMMtube	muscle
20	chr7:40790600-40794000	Weak transcription	Liver	Liver
21	chr7:40791600-40795000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:40793000-40795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:40793000-40795200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:40793000-40797200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:40793000-40799600	Weak transcription	Brain Substantia Nigra	brain
26	chr7:40793000-40800600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:40793600-40794600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:40793600-40796000	Enhancers	HUES48 Cell Line	embryonic stem cell

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