Variant report

Variant	rs3796644
Chromosome Location	chr4:186652292-186652293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186642283..186645621-chr4:186649150..186653147,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11730508	0.91[ASN][1000 genomes]
rs2013570	0.82[CHB][hapmap]
rs4862568	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6821153	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6827602	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6850326	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7691312	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[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	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	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
3	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
4	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
5	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
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186640800-186653600	Weak transcription	Fetal Intestine Large	intestine
2	chr4:186642800-186657800	Weak transcription	Gastric	stomach
3	chr4:186643000-186654000	Weak transcription	Fetal Intestine Small	intestine
4	chr4:186643800-186657800	Weak transcription	Fetal Brain Female	brain
5	chr4:186646800-186653600	Weak transcription	HepG2	liver
6	chr4:186648400-186658800	Weak transcription	Brain Germinal Matrix	brain
7	chr4:186648600-186652400	Weak transcription	Fetal Brain Male	brain
8	chr4:186649200-186653600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:186649200-186659000	Weak transcription	Fetal Kidney	kidney
10	chr4:186649800-186652400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:186650200-186652400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:186650200-186652400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:186650200-186652400	Enhancers	NHDF-Ad	bronchial
14	chr4:186650200-186653600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:186650600-186652400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:186650600-186652600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:186650800-186658600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:186651000-186660000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:186651200-186652600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:186651200-186652600	Enhancers	Fetal Stomach	stomach
21	chr4:186651400-186652400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:186651400-186652400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:186651400-186652600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:186651400-186652600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:186651600-186652400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:186651600-186652400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:186651600-186652400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:186651600-186652400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:186651600-186652400	Enhancers	Fetal Muscle Leg	muscle
30	chr4:186651600-186652400	Enhancers	Stomach Smooth Muscle	stomach
31	chr4:186651600-186652400	Flanking Active TSS	GM12878-XiMat	blood
32	chr4:186651600-186652400	Enhancers	HMEC	breast
33	chr4:186651600-186652400	Enhancers	HSMM	muscle
34	chr4:186651600-186652400	Enhancers	HSMMtube	muscle
35	chr4:186651600-186652400	Enhancers	Osteobl	bone
36	chr4:186651600-186652600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:186651600-186652600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:186651600-186652800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:186651600-186652800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:186651600-186653800	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:186651600-186654200	Enhancers	Colon Smooth Muscle	Colon
42	chr4:186651800-186652400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:186651800-186652400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr4:186651800-186652400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:186651800-186652400	Enhancers	Adipose Nuclei	Adipose
46	chr4:186651800-186652400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:186651800-186652400	Genic enhancers	Fetal Heart	heart
48	chr4:186651800-186652400	Enhancers	Stomach Mucosa	stomach
49	chr4:186651800-186652400	Enhancers	Hela-S3	cervix
50	chr4:186651800-186652400	Enhancers	NH-A	brain

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