Variant report

Variant	rs9642178
Chromosome Location	chr7:83814352-83814353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1006795	0.86[ASN][1000 genomes]
rs10224865	0.84[ASN][1000 genomes]
rs10256270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333631	0.88[ASN][1000 genomes]
rs1356804	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28397702	0.82[ASN][1000 genomes]
rs28884542	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58835109	0.84[ASN][1000 genomes]
rs6953184	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6972377	0.83[ASN][1000 genomes]
rs6978737	0.86[ASN][1000 genomes]
rs73179383	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73179400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73181306	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73181369	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73181375	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73181392	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183125	0.80[EUR][1000 genomes]
rs73185111	0.84[ASN][1000 genomes]
rs73185120	0.86[ASN][1000 genomes]
rs73185127	0.81[ASN][1000 genomes]
rs73185135	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73189024	0.83[AFR][1000 genomes]
rs7804323	0.85[EUR][1000 genomes]
rs7808707	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs977752	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:83800800-83816600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:83803400-83816200	Weak transcription	Fetal Brain Male	brain
4	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:83803600-83816200	Weak transcription	NHLF	lung
6	chr7:83803600-83816400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:83803600-83816400	Weak transcription	NH-A	brain
8	chr7:83803800-83820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:83804600-83816200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:83805000-83816200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:83805000-83817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:83806400-83815400	Weak transcription	Fetal Stomach	stomach
13	chr7:83806800-83816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:83809000-83816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:83811600-83816400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:83812000-83816200	Weak transcription	A549	lung
17	chr7:83812000-83816400	Weak transcription	NHDF-Ad	bronchial
18	chr7:83812000-83819600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:83812600-83816200	Weak transcription	Fetal Kidney	kidney
20	chr7:83812600-83816600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:83812800-83814600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:83813400-83814400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:83813600-83814400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:83813600-83814400	Enhancers	Fetal Heart	heart
25	chr7:83813600-83814400	Enhancers	Fetal Lung	lung
26	chr7:83813800-83814600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:83814000-83814400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:83814000-83814400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:83814000-83814400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:83814000-83816000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:83814000-83816200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:83814000-83823200	Weak transcription	Brain Substantia Nigra	brain
33	chr7:83814200-83816200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:83814200-83816800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:83814200-83817200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:83814200-83823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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