Variant report

Variant	rs17633530
Chromosome Location	chr4:152136633-152136634
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10020317	0.85[JPT][hapmap]
rs10434137	0.85[JPT][hapmap]
rs10520101	0.85[JPT][hapmap]
rs10520102	0.85[JPT][hapmap]
rs10776522	0.85[JPT][hapmap]
rs10857253	0.85[JPT][hapmap]
rs11733964	0.85[JPT][hapmap]
rs11734577	0.85[JPT][hapmap]
rs11934792	0.85[JPT][hapmap]
rs12503016	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12504166	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12505974	0.85[JPT][hapmap]
rs12508270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12511209	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512856	0.85[JPT][hapmap]
rs12644496	0.85[JPT][hapmap]
rs12647306	0.85[JPT][hapmap]
rs13101417	0.85[JPT][hapmap]
rs13145829	0.85[JPT][hapmap]
rs17633537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17633600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17633648	0.93[ASN][1000 genomes]
rs17633654	0.93[ASN][1000 genomes]
rs2280280	0.83[JPT][hapmap]
rs2280283	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2407410	1.00[CEU][hapmap]
rs2407412	0.85[JPT][hapmap]
rs2407417	0.85[JPT][hapmap]
rs2897659	0.85[JPT][hapmap]
rs36115072	0.80[AMR][1000 genomes]
rs3736502	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3792611	0.85[JPT][hapmap]
rs4266274	0.85[JPT][hapmap]
rs4696234	0.85[JPT][hapmap]
rs4696658	0.85[JPT][hapmap]
rs58496896	1.00[ASN][1000 genomes]
rs59944801	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60212468	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60367453	0.99[ASN][1000 genomes]
rs60761330	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60953992	0.86[ASN][1000 genomes]
rs61442068	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6535764	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6846323	0.85[JPT][hapmap]
rs6858302	0.83[ASN][1000 genomes]
rs72967545	0.93[ASN][1000 genomes]
rs7439970	0.83[JPT][hapmap]
rs7656771	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7664483	0.85[JPT][hapmap]
rs7669180	0.85[JPT][hapmap]
rs7671332	0.93[ASN][1000 genomes]
rs7681468	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs7681571	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7691584	0.85[JPT][hapmap]
rs7699574	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv870229	chr4:152114410-152161072	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152098400-152147200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:152117600-152148800	Weak transcription	Esophagus	oesophagus
3	chr4:152118800-152146600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:152119000-152139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:152119400-152139400	Weak transcription	NHEK	skin
6	chr4:152120800-152153800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:152121000-152138000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:152124400-152139600	Weak transcription	Osteobl	bone
9	chr4:152124400-152147000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:152124600-152139400	Weak transcription	HSMM	muscle
11	chr4:152124600-152139600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:152124600-152139800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:152124600-152146800	Weak transcription	HSMMtube	muscle
14	chr4:152124800-152140000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:152126400-152147200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:152126800-152147000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:152128000-152140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:152128000-152141600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:152128400-152138000	Weak transcription	Fetal Stomach	stomach
20	chr4:152128400-152139600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:152128400-152146600	Weak transcription	HMEC	breast
22	chr4:152128400-152146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:152128600-152147200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:152129000-152139200	Weak transcription	NHDF-Ad	bronchial
25	chr4:152129000-152139600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:152129000-152146800	Weak transcription	Brain Angular Gyrus	brain
27	chr4:152129000-152148800	Weak transcription	Fetal Intestine Large	intestine
28	chr4:152129000-152168000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:152129200-152136800	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:152129200-152138400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:152129200-152142200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:152129200-152148800	Weak transcription	Liver	Liver
33	chr4:152129400-152143800	Weak transcription	Fetal Intestine Small	intestine
34	chr4:152129400-152167800	Weak transcription	Right Ventricle	heart
35	chr4:152129600-152138000	Weak transcription	Fetal Heart	heart
36	chr4:152129600-152140200	Weak transcription	HepG2	liver
37	chr4:152129600-152146800	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:152129600-152147200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:152130200-152187800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:152133600-152147200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:152134400-152139600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:152135200-152137000	Weak transcription	Right Atrium	heart
43	chr4:152136200-152137000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr4:152136200-152137200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:152136200-152137400	Enhancers	Left Ventricle	heart
46	chr4:152136200-152137600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:152136200-152139600	Enhancers	HUVEC	blood vessel
48	chr4:152136400-152136800	Enhancers	Brain Hippocampus Middle	brain
49	chr4:152136400-152137000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:152136400-152137000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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