Variant report

Variant	rs2178216
Chromosome Location	chr4:99545403-99545404
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10003932	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10020677	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10026666	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11097625	0.92[ASN][1000 genomes]
rs11097626	0.92[ASN][1000 genomes]
rs11937119	0.92[ASN][1000 genomes]
rs11938081	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11941870	0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs11941880	0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs11946198	0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs12504979	0.85[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12509170	0.85[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12512885	0.92[ASN][1000 genomes]
rs2866015	0.85[JPT][hapmap]
rs3941	0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4699356	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs6532752	0.92[ASN][1000 genomes]
rs6532754	0.85[JPT][hapmap]
rs6819238	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs6820406	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6832517	0.81[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs6846265	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs6848644	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7682381	0.92[ASN][1000 genomes]
rs9684705	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs9686007	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594940	chr4:99542475-99573350	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	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	chr4:99535600-99554200	Enhancers	Brain Substantia Nigra	brain
2	chr4:99536200-99545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:99539000-99546400	Weak transcription	Fetal Thymus	thymus
4	chr4:99539000-99547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99539200-99546000	Weak transcription	Fetal Heart	heart
6	chr4:99539200-99546600	Weak transcription	HSMM	muscle
7	chr4:99539200-99547200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:99539200-99547200	Weak transcription	Right Atrium	heart
9	chr4:99539200-99547600	Weak transcription	Gastric	stomach
10	chr4:99539200-99547600	Weak transcription	Left Ventricle	heart
11	chr4:99539200-99547600	Weak transcription	Right Ventricle	heart
12	chr4:99539200-99547800	Weak transcription	Fetal Stomach	stomach
13	chr4:99540000-99547400	Weak transcription	Fetal Lung	lung
14	chr4:99541800-99546800	Weak transcription	Fetal Brain Female	brain
15	chr4:99542000-99546400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:99542000-99546400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:99542000-99547200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:99542000-99547200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:99542000-99547200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:99542200-99546600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:99542200-99547600	Weak transcription	Fetal Brain Male	brain
22	chr4:99542400-99546600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:99542400-99547200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:99542600-99546400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:99543200-99547200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:99543400-99547200	Enhancers	NHDF-Ad	bronchial
27	chr4:99543400-99547200	Enhancers	NHLF	lung
28	chr4:99543400-99549400	Enhancers	Brain Hippocampus Middle	brain
29	chr4:99543400-99550000	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:99543600-99546000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:99543600-99546400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:99543600-99547200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:99543800-99546000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:99543800-99548200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:99543800-99550000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:99544000-99550000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:99544000-99552400	Weak transcription	Thymus	Thymus
38	chr4:99544200-99545600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:99544200-99546600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:99544200-99546600	Enhancers	NHEK	skin
41	chr4:99544200-99547200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:99544200-99547400	Enhancers	Osteobl	bone
43	chr4:99544400-99546600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:99544400-99546600	Weak transcription	Brain Anterior Caudate	brain
45	chr4:99544400-99547800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:99544400-99548400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr4:99544400-99551200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:99544600-99547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:99544600-99547200	Weak transcription	Primary B cells from cord blood	blood
50	chr4:99544600-99547800	Weak transcription	Brain Germinal Matrix	brain

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