Variant report

Variant	rs10017388
Chromosome Location	chr4:186603464-186603465
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10000730	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022965	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28548754	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597952	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28612763	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28640934	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4862562	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235904	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66688377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67910991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700110	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700117	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994953	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186577800-186604000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:186583400-186607200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:186583800-186604800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:186587200-186610600	Weak transcription	Lung	lung
5	chr4:186594400-186604000	Weak transcription	Right Atrium	heart
6	chr4:186595200-186606000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:186596800-186606000	Weak transcription	Right Ventricle	heart
8	chr4:186596800-186610600	Weak transcription	Gastric	stomach
9	chr4:186597200-186626000	Weak transcription	HepG2	liver
10	chr4:186598400-186613200	Weak transcription	Fetal Stomach	stomach
11	chr4:186598600-186605000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:186598600-186610400	Weak transcription	Aorta	Aorta
13	chr4:186598600-186610600	Weak transcription	Pancreas	Pancrea
14	chr4:186598600-186615800	Weak transcription	Fetal Intestine Small	intestine
15	chr4:186599600-186621200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:186599800-186605200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:186600400-186605800	Enhancers	Fetal Heart	heart
18	chr4:186601000-186615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:186602400-186614800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:186602600-186603600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:186602600-186605200	Enhancers	Left Ventricle	heart
22	chr4:186602800-186603600	Enhancers	HSMM	muscle
23	chr4:186602800-186603800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:186602800-186603800	Enhancers	NH-A	brain
25	chr4:186602800-186604000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:186602800-186604000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:186602800-186604400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:186603000-186603600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:186603000-186604200	Weak transcription	Liver	Liver
30	chr4:186603000-186606800	Weak transcription	Esophagus	oesophagus
31	chr4:186603200-186603600	Enhancers	HSMMtube	muscle
32	chr4:186603200-186603600	Enhancers	NHDF-Ad	bronchial
33	chr4:186603200-186603600	Flanking Active TSS	Osteobl	bone
34	chr4:186603200-186604000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:186603200-186604000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:186603200-186604000	Enhancers	HUVEC	blood vessel
37	chr4:186603400-186603800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:186603400-186604200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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