Variant report

Variant	rs1623312
Chromosome Location	chr7:83626267-83626268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11975852	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13236626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1626663	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1627397	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1639559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1639582	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1639583	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2535786	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2691695	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801594	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4385417	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs701311	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs701312	0.90[EUR][1000 genomes]
rs701314	0.81[ASN][1000 genomes]
rs701320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7779973	0.81[AMR][1000 genomes]
rs7786257	0.81[EUR][1000 genomes]
rs7799653	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs797802	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs797804	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs797805	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs797816	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs797818	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs797820	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs797822	0.83[ASN][1000 genomes]
rs797823	0.83[ASN][1000 genomes]
rs797826	0.92[EUR][1000 genomes]
rs797828	0.91[EUR][1000 genomes]
rs797833	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv607707	chr7:83381032-83646816	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv888622	chr7:83526743-83631376	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3352967	chr7:83626144-83684599	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
2	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:83606000-83654000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:83606200-83643200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:83609800-83650400	Weak transcription	NHLF	lung
10	chr7:83610200-83642200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:83612200-83626400	Weak transcription	NHDF-Ad	bronchial
13	chr7:83622800-83643200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:83623600-83634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:83624400-83628000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:83624400-83651600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:83624600-83628000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:83624600-83629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:83625000-83626400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:83625000-83646800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:83625200-83627800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:83625400-83627600	Weak transcription	Fetal Lung	lung
23	chr7:83625400-83638200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:83625600-83626400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:83625600-83629400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:83625600-83633800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:83625600-83643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:83626000-83626600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:83626000-83650600	Weak transcription	NH-A	brain
30	chr7:83626200-83626600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:83626200-83626800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:83626200-83629600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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