Variant report

Variant	rs10938705
Chromosome Location	chr4:8283630-8283631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11721861	0.90[ASN][1000 genomes]
rs11721894	0.94[ASN][1000 genomes]
rs11726756	0.94[ASN][1000 genomes]
rs4235255	0.82[EUR][1000 genomes]
rs4256210	0.81[EUR][1000 genomes]
rs4263384	0.81[EUR][1000 genomes]
rs4432734	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4479688	0.81[EUR][1000 genomes]
rs4557246	0.81[EUR][1000 genomes]
rs4696790	0.82[EUR][1000 genomes]
rs4696791	0.82[EUR][1000 genomes]
rs6447855	0.82[EUR][1000 genomes]
rs7340939	0.88[ASN][1000 genomes]
rs7340942	0.88[ASN][1000 genomes]
rs7657844	0.82[EUR][1000 genomes]
rs7667093	0.82[EUR][1000 genomes]
rs7670269	0.83[EUR][1000 genomes]
rs7670516	0.82[EUR][1000 genomes]
rs7678420	0.81[EUR][1000 genomes]
rs7684385	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7685824	0.82[EUR][1000 genomes]
rs7690786	0.82[EUR][1000 genomes]
rs9985550	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	25 gene(s)	inside rSNPs	diseases
5	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8273400-8284000	Enhancers	Fetal Muscle Leg	muscle
2	chr4:8273800-8283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:8273800-8287400	Enhancers	Fetal Heart	heart
4	chr4:8275600-8283800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:8276400-8283800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:8276400-8284400	Weak transcription	Spleen	Spleen
7	chr4:8279000-8317200	Weak transcription	Gastric	stomach
8	chr4:8280600-8287600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:8281000-8284600	Weak transcription	Fetal Thymus	thymus
10	chr4:8281400-8284200	Enhancers	Right Ventricle	heart
11	chr4:8281400-8284800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:8281400-8284800	Genic enhancers	Stomach Smooth Muscle	stomach
13	chr4:8281400-8285400	Weak transcription	NHLF	lung
14	chr4:8281400-8287800	Genic enhancers	Fetal Stomach	stomach
15	chr4:8281400-8292800	Weak transcription	Fetal Intestine Small	intestine
16	chr4:8281600-8284000	Enhancers	Adipose Nuclei	Adipose
17	chr4:8281800-8284400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:8281800-8284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:8281800-8284600	Weak transcription	Placenta	Placenta
20	chr4:8282000-8285000	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr4:8282200-8284000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:8282400-8283800	Enhancers	Colon Smooth Muscle	Colon
23	chr4:8282400-8284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:8282600-8284200	Enhancers	Ovary	ovary
25	chr4:8282600-8284400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:8282800-8283800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:8282800-8284000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr4:8282800-8284200	Enhancers	Fetal Lung	lung
29	chr4:8282800-8284200	Enhancers	NHDF-Ad	bronchial
30	chr4:8283000-8283800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:8283000-8283800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:8283200-8283800	Enhancers	Left Ventricle	heart
33	chr4:8283200-8283800	Enhancers	HSMMtube	muscle
34	chr4:8283200-8284000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:8283400-8283800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:8283400-8286000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:8283400-8286600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:8283600-8283800	Enhancers	Lung	lung
39	chr4:8283600-8283800	Enhancers	Right Atrium	heart
40	chr4:8283600-8285800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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