Variant report

Variant	rs6433767
Chromosome Location	chr2:180042220-180042221
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13013868	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742744	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757681	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs873023	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
3	chr2:179980000-180056800	Weak transcription	HSMM	muscle
4	chr2:179991600-180043200	Weak transcription	Psoas Muscle	Psoas
5	chr2:179996200-180047600	Weak transcription	NH-A	brain
6	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
7	chr2:180004800-180046000	Weak transcription	Spleen	Spleen
8	chr2:180005600-180044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:180005600-180044400	Weak transcription	Esophagus	oesophagus
10	chr2:180005800-180043200	Weak transcription	Fetal Brain Male	brain
11	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
12	chr2:180006000-180044600	Weak transcription	Pancreas	Pancrea
13	chr2:180006600-180051000	Weak transcription	HUVEC	blood vessel
14	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:180007400-180043000	Weak transcription	Aorta	Aorta
16	chr2:180008600-180048400	Weak transcription	Small Intestine	intestine
17	chr2:180013200-180044400	Weak transcription	Fetal Kidney	kidney
18	chr2:180015000-180043200	Weak transcription	Gastric	stomach
19	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:180015000-180060600	Weak transcription	Lung	lung
22	chr2:180015200-180046200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:180015200-180047200	Weak transcription	Placenta	Placenta
24	chr2:180015400-180046000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:180015400-180049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
27	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:180015800-180043400	Weak transcription	Liver	Liver
29	chr2:180016000-180049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
31	chr2:180016200-180054000	Weak transcription	Osteobl	bone
32	chr2:180023000-180052800	Weak transcription	Fetal Heart	heart
33	chr2:180024200-180045800	Weak transcription	GM12878-XiMat	blood
34	chr2:180024400-180048600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:180026400-180048800	Weak transcription	Fetal Intestine Small	intestine
36	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
37	chr2:180030800-180046000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:180030800-180050800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:180031200-180052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:180031400-180050000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:180031800-180045600	Weak transcription	Fetal Brain Female	brain
42	chr2:180032000-180045000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:180032200-180050800	Weak transcription	NHEK	skin
44	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:180033000-180047800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:180033000-180049600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:180033200-180044800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:180036200-180048000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr2:180036400-180042600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:180036600-180051800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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