Variant report

Variant	rs6949092
Chromosome Location	chr7:40872428-40872429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1013574	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233069	0.84[ASN][1000 genomes]
rs10235458	0.92[ASN][1000 genomes]
rs10247275	0.96[EUR][1000 genomes]
rs10279715	0.84[ASN][1000 genomes]
rs1029621	0.93[ASN][1000 genomes]
rs12537964	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243593	0.82[ASN][1000 genomes]
rs13246232	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2108375	0.84[ASN][1000 genomes]
rs2108376	0.84[ASN][1000 genomes]
rs34565813	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34689844	0.84[ASN][1000 genomes]
rs4723979	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462989	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9639838	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1827128	chr7:40862370-40886576	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40867600-40872600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:40867600-40872600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:40867600-40873000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:40867600-40882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:40867800-40873000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:40867800-40875800	Weak transcription	NHEK	skin
7	chr7:40867800-40877200	Weak transcription	HSMM	muscle
8	chr7:40868000-40873400	Weak transcription	Aorta	Aorta
9	chr7:40868400-40872600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:40868600-40872600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:40868800-40879400	Weak transcription	HSMMtube	muscle
12	chr7:40869600-40873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:40869800-40874800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:40869800-40879400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:40870800-40872600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:40870800-40873600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:40871000-40873600	Weak transcription	NHDF-Ad	bronchial
18	chr7:40871800-40872800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:40872000-40873200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:40872200-40873200	Weak transcription	HMEC	breast
21	chr7:40872200-40873800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:40872400-40872600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:40872400-40873800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr7:40872400-40873800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:40872400-40873800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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