Variant report

Variant	rs192997
Chromosome Location	chr4:187604655-187604656
allele	C/G
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:9)

rs_ID	r²[population]
rs162063	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs162182	0.91[EUR][1000 genomes]
rs167854	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28532777	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs327077	0.93[EUR][1000 genomes]
rs327078	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs327111	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs456000	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs462509	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh 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	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv881509	chr4:187574398-187614434	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187573000-187605400	Weak transcription	Gastric	stomach
2	chr4:187583000-187614400	Weak transcription	Colonic Mucosa	Colon
3	chr4:187587600-187610200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:187591200-187607000	Weak transcription	Adipose Nuclei	Adipose
5	chr4:187591200-187614400	Weak transcription	Ovary	ovary
6	chr4:187592200-187605400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:187594000-187605800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:187598200-187606000	Weak transcription	Small Intestine	intestine
9	chr4:187598200-187614400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:187598400-187609400	Weak transcription	Aorta	Aorta
11	chr4:187598600-187605400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:187598600-187605400	Weak transcription	Stomach Mucosa	stomach
13	chr4:187598600-187605800	Weak transcription	HSMMtube	muscle
14	chr4:187598600-187606000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:187598600-187606400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:187598800-187606000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:187599000-187605800	Weak transcription	NH-A	brain
18	chr4:187599000-187606000	Weak transcription	NHDF-Ad	bronchial
19	chr4:187599200-187605600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:187599200-187606000	Weak transcription	Fetal Kidney	kidney
21	chr4:187599200-187606400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:187600000-187604800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:187600200-187617000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:187600400-187606000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:187601000-187606000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:187601200-187605600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:187601400-187605600	Strong transcription	NHEK	skin
28	chr4:187601800-187605000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:187602200-187605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:187602600-187605400	Strong transcription	HMEC	breast
31	chr4:187602800-187604800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:187603200-187606200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:187603400-187605400	Enhancers	A549	lung
34	chr4:187603800-187604800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr4:187603800-187604800	Genic enhancers	Pancreas	Pancrea
36	chr4:187603800-187605000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:187603800-187605200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:187603800-187606400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:187603800-187607000	Enhancers	Left Ventricle	heart
40	chr4:187603800-187609000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:187604000-187605000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:187604000-187605800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:187604000-187605800	Enhancers	Fetal Heart	heart
44	chr4:187604000-187606200	Enhancers	Right Ventricle	heart
45	chr4:187604000-187606400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:187604000-187606600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:187604000-187608400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:187604200-187605600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:187604200-187606200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:187604200-187608800	Enhancers	HUES64 Cell Line	embryonic stem cell

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