Variant report

Variant	rs2781844
Chromosome Location	chr7:80239764-80239765
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	chr7:80239752..80242160-chr7:80242540..80244695,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10215288	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10245610	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1093827	0.86[EUR][1000 genomes]
rs1093828	0.86[EUR][1000 genomes]
rs1093832	0.86[EUR][1000 genomes]
rs1194180	1.00[CEU][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1194203	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1205467	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs12706918	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1334513	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1334514	0.96[EUR][1000 genomes]
rs1334516	0.96[EUR][1000 genomes]
rs1334517	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1334518	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1413656	0.92[EUR][1000 genomes]
rs1413657	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1413659	1.00[CEU][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1413662	0.86[EUR][1000 genomes]
rs1524597	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1527463	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1537592	0.96[EUR][1000 genomes]
rs1572230	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17154246	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1722501	0.96[EUR][1000 genomes]
rs1722503	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1722504	1.00[CEU][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1722508	1.00[EUR][1000 genomes]
rs1722509	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1722521	0.86[EUR][1000 genomes]
rs1761644	0.86[EUR][1000 genomes]
rs1761649	0.86[EUR][1000 genomes]
rs1761664	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1931697	0.96[EUR][1000 genomes]
rs2366856	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2691204	0.89[EUR][1000 genomes]
rs2781845	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3211809	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3211855	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3211892	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3211905	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3211909	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3211912	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3211913	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4728191	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4731646	0.96[EUR][1000 genomes]
rs73371041	0.86[EUR][1000 genomes]
rs73371043	0.86[EUR][1000 genomes]
rs73371050	0.86[EUR][1000 genomes]
rs73373037	0.86[EUR][1000 genomes]
rs73376911	0.86[EUR][1000 genomes]
rs73376957	1.00[EUR][1000 genomes]
rs73709014	0.89[EUR][1000 genomes]
rs819438	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs819439	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs819440	0.89[EUR][1000 genomes]
rs819448	0.86[EUR][1000 genomes]
rs819449	0.86[EUR][1000 genomes]
rs819450	0.86[EUR][1000 genomes]
rs819458	0.86[EUR][1000 genomes]
rs867875	0.86[EUR][1000 genomes]
rs867877	0.86[EUR][1000 genomes]
rs945097	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs945098	0.86[EUR][1000 genomes]
rs945099	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80231800-80240200	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:80234600-80240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:80234800-80241600	Enhancers	Fetal Intestine Small	intestine
4	chr7:80236000-80239800	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:80236000-80240400	Weak transcription	Fetal Stomach	stomach
6	chr7:80236200-80240400	Weak transcription	Psoas Muscle	Psoas
7	chr7:80236800-80241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:80237000-80241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:80237000-80241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:80237200-80240200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:80237400-80240000	Weak transcription	Right Ventricle	heart
12	chr7:80237600-80242800	Enhancers	Liver	Liver
13	chr7:80237600-80243000	Enhancers	Fetal Heart	heart
14	chr7:80238000-80240400	Enhancers	HepG2	liver
15	chr7:80238600-80240800	Enhancers	Left Ventricle	heart
16	chr7:80239200-80242200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr7:80239400-80240200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:80239400-80240400	Weak transcription	Fetal Lung	lung
19	chr7:80239400-80240400	Weak transcription	Pancreas	Pancrea
20	chr7:80239400-80240400	Weak transcription	Small Intestine	intestine
21	chr7:80239400-80240400	Weak transcription	Stomach Mucosa	stomach
22	chr7:80239400-80240600	Weak transcription	Lung	lung
23	chr7:80239400-80240800	Weak transcription	Ovary	ovary
24	chr7:80239400-80241400	Enhancers	Adipose Nuclei	Adipose
25	chr7:80239400-80244600	Weak transcription	Right Atrium	heart
26	chr7:80239600-80240000	Weak transcription	Fetal Intestine Large	intestine
27	chr7:80239600-80240000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:80239600-80240600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:80239600-80240800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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