Variant report

Variant	rs4693742
Chromosome Location	chr4:86753126-86753127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11942119	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499386	0.82[ASN][1000 genomes]
rs12500124	0.82[ASN][1000 genomes]
rs12504839	0.83[ASN][1000 genomes]
rs12504871	0.83[ASN][1000 genomes]
rs12512001	0.83[ASN][1000 genomes]
rs17010960	0.82[ASN][1000 genomes]
rs17011016	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011069	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs345364	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs345365	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs345370	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4693741	0.84[ASN][1000 genomes]
rs4693743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4693744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66596399	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66681569	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67579023	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67631333	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67886916	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658238	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv470049	chr4:86750699-86776488	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:86749400-86753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:86749400-86753200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:86749400-86753200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:86749400-86753200	Weak transcription	Gastric	stomach
6	chr4:86749400-86754400	Weak transcription	Right Ventricle	heart
7	chr4:86749400-86758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:86749400-86761600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:86749400-86787600	Weak transcription	Pancreas	Pancrea
10	chr4:86749600-86753200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:86749600-86753200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:86749600-86754600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:86749600-86761200	Weak transcription	Ovary	ovary
14	chr4:86749600-86763600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:86749800-86753200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:86749800-86758000	Weak transcription	NHLF	lung
17	chr4:86750000-86753200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:86750000-86754000	Weak transcription	Adipose Nuclei	Adipose
19	chr4:86750000-86754200	Weak transcription	Fetal Intestine Small	intestine
20	chr4:86750000-86757800	Weak transcription	Fetal Stomach	stomach
21	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:86750600-86753200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:86750800-86753200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:86750800-86754400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:86751000-86753200	Weak transcription	HUVEC	blood vessel
26	chr4:86751200-86761400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:86751600-86753400	Weak transcription	NHDF-Ad	bronchial
28	chr4:86751600-86754400	Weak transcription	Fetal Heart	heart
29	chr4:86751600-86757200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:86751600-86757600	Weak transcription	HSMM	muscle
31	chr4:86751600-86757800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:86751800-86757400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:86751800-86761600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:86752000-86753200	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:86752200-86754200	Weak transcription	Fetal Kidney	kidney
36	chr4:86752600-86753200	Enhancers	Stomach Mucosa	stomach
37	chr4:86752600-86753600	Enhancers	Primary B cells from peripheral blood	blood
38	chr4:86752800-86753600	Enhancers	Left Ventricle	heart
39	chr4:86752800-86754600	Enhancers	Right Atrium	heart
40	chr4:86753000-86753400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:86753000-86753600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:86753000-86753600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:86753000-86753600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:86753000-86753600	Enhancers	Aorta	Aorta
45	chr4:86753000-86754000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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