Variant report

Variant	rs73187480
Chromosome Location	chr7:83685990-83685991
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1534075	0.82[ASN][1000 genomes]
rs16887610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158521	0.86[ASN][1000 genomes]
rs17158529	0.86[ASN][1000 genomes]
rs17158532	0.86[ASN][1000 genomes]
rs17158583	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2372020	0.86[ASN][1000 genomes]
rs3779441	0.82[ASN][1000 genomes]
rs41323648	0.92[ASN][1000 genomes]
rs59023591	0.86[ASN][1000 genomes]
rs59172728	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60359427	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61482260	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66493308	0.87[ASN][1000 genomes]
rs68158025	0.83[ASN][1000 genomes]
rs73185447	0.86[ASN][1000 genomes]
rs73185458	0.86[ASN][1000 genomes]
rs73185463	0.86[ASN][1000 genomes]
rs73185469	0.86[ASN][1000 genomes]
rs73185480	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73187439	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73187440	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73187443	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73187445	0.93[ASN][1000 genomes]
rs73187447	0.92[ASN][1000 genomes]
rs73187448	0.92[ASN][1000 genomes]
rs73187451	0.93[ASN][1000 genomes]
rs73187453	0.93[ASN][1000 genomes]
rs73187455	0.93[ASN][1000 genomes]
rs73187457	0.93[ASN][1000 genomes]
rs73187458	0.93[ASN][1000 genomes]
rs73187460	0.93[ASN][1000 genomes]
rs73187462	0.93[ASN][1000 genomes]
rs73187464	0.93[ASN][1000 genomes]
rs73187466	0.93[ASN][1000 genomes]
rs73187470	0.93[ASN][1000 genomes]
rs73187479	0.93[ASN][1000 genomes]
rs73189355	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73189358	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	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
2	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
3	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
4	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
5	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888627	chr7:83659577-83708238	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	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	chr7:83671800-83687400	Weak transcription	Fetal Intestine Large	intestine
2	chr7:83673200-83688200	Weak transcription	NHLF	lung
3	chr7:83673800-83687400	Weak transcription	NH-A	brain
4	chr7:83673800-83707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:83674600-83687600	Weak transcription	Fetal Lung	lung
6	chr7:83674600-83689600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:83675800-83688400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:83678800-83690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:83684600-83686000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:83685000-83686800	Enhancers	Hela-S3	cervix
11	chr7:83685200-83686000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:83685200-83686400	Enhancers	HMEC	breast
13	chr7:83685200-83686800	Enhancers	NHEK	skin
14	chr7:83685400-83686400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:83685400-83686600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:83685600-83686000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:83685600-83686000	Enhancers	A549	lung
18	chr7:83685600-83686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:83685600-83686400	Enhancers	Stomach Mucosa	stomach
20	chr7:83685800-83686000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:83685800-83686000	Enhancers	HepG2	liver
22	chr7:83685800-83686400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:83685800-83687800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:83685800-83688000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:83685800-83688400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:83685800-83689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:83685800-83689000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:83685800-83689600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:83685800-83690200	Weak transcription	NHDF-Ad	bronchial
30	chr7:83685800-83690400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:83685800-83691600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:83685800-83691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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