Variant report

Variant	rs7683646
Chromosome Location	chr4:125404621-125404622
allele	G/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:15)

rs_ID	r²[population]
rs11732428	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110696	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13110707	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13119813	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13124572	0.81[ASN][1000 genomes]
rs1546102	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907812	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2172369	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2390690	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4495048	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4833986	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833987	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7659476	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7677307	0.86[EUR][1000 genomes]
rs7683709	0.84[AFR][1000 genomes];0.84[EUR][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	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125403000-125406000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:125403600-125405400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:125403800-125405000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:125403800-125405000	Enhancers	Fetal Heart	heart
5	chr4:125404000-125404800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:125404000-125404800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:125404000-125404800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:125404000-125404800	Enhancers	Fetal Kidney	kidney
9	chr4:125404000-125404800	Enhancers	Placenta	Placenta
10	chr4:125404000-125404800	Enhancers	Fetal Stomach	stomach
11	chr4:125404000-125404800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:125404000-125404800	Enhancers	HSMMtube	muscle
13	chr4:125404000-125404800	Enhancers	HUVEC	blood vessel
14	chr4:125404000-125404800	Enhancers	NHDF-Ad	bronchial
15	chr4:125404000-125405000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:125404000-125405000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:125404000-125405400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:125404000-125405400	Enhancers	Brain Germinal Matrix	brain
19	chr4:125404000-125405600	Enhancers	Fetal Lung	lung
20	chr4:125404200-125404800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:125404200-125404800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:125404200-125404800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:125404200-125404800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:125404200-125404800	Enhancers	Fetal Muscle Leg	muscle
25	chr4:125404200-125404800	Enhancers	Gastric	stomach
26	chr4:125404200-125404800	Enhancers	Lung	lung
27	chr4:125404200-125404800	Enhancers	Pancreas	Pancrea
28	chr4:125404200-125404800	Enhancers	Right Atrium	heart
29	chr4:125404200-125405000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:125404200-125405800	Enhancers	Stomach Mucosa	stomach
31	chr4:125404400-125404800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:125404400-125404800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:125404400-125404800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:125404400-125404800	Enhancers	Fetal Intestine Large	intestine
35	chr4:125404400-125405000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:125404600-125405200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:125404600-125405200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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