Variant report

Variant	rs35093541
Chromosome Location	chr2:86255790-86255791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2278086	0.93[AFR][1000 genomes]
rs2278537	0.96[AFR][1000 genomes]
rs34302587	0.89[AFR][1000 genomes]
rs36051710	0.93[AFR][1000 genomes]
rs3770086	0.96[AFR][1000 genomes]
rs3770091	0.96[AFR][1000 genomes]
rs56673339	0.96[AFR][1000 genomes]
rs57906735	0.96[AFR][1000 genomes]
rs58403969	0.96[AFR][1000 genomes]
rs58614836	0.86[AFR][1000 genomes]
rs59947468	0.86[AFR][1000 genomes]
rs60719866	0.93[AFR][1000 genomes]
rs61185790	0.96[AFR][1000 genomes]
rs6547656	0.96[AFR][1000 genomes]
rs6547657	0.96[AFR][1000 genomes]
rs6704777	0.96[AFR][1000 genomes]
rs6708146	0.96[AFR][1000 genomes]
rs6712535	0.96[AFR][1000 genomes]
rs6712576	0.96[AFR][1000 genomes]
rs6724612	0.89[AFR][1000 genomes]
rs6737211	0.96[AFR][1000 genomes]
rs6741815	0.96[AFR][1000 genomes]
rs6741832	0.96[AFR][1000 genomes]
rs6755224	0.96[AFR][1000 genomes]
rs6755246	0.93[AFR][1000 genomes]
rs7557349	0.96[AFR][1000 genomes]
rs7569577	0.96[AFR][1000 genomes]
rs7572206	0.96[AFR][1000 genomes]
rs7582484	0.96[AFR][1000 genomes]
rs7599656	0.96[AFR][1000 genomes]
rs7606062	0.90[AFR][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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86244200-86257000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:86244600-86257200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:86245400-86257200	Weak transcription	Stomach Mucosa	stomach
4	chr2:86245400-86257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:86245400-86263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:86248800-86257000	Weak transcription	Psoas Muscle	Psoas
7	chr2:86248800-86257200	Weak transcription	Fetal Kidney	kidney
8	chr2:86250800-86262200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:86251000-86261000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:86251000-86262000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:86251000-86262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:86251000-86262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:86251200-86255800	Genic enhancers	Fetal Thymus	thymus
14	chr2:86251200-86261600	Strong transcription	NH-A	brain
15	chr2:86251200-86261800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:86251200-86262400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:86251200-86262800	Strong transcription	Fetal Brain Female	brain
18	chr2:86251200-86263200	Strong transcription	A549	lung
19	chr2:86251200-86273200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr2:86251200-86283000	Strong transcription	HepG2	liver
22	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:86251400-86255800	Strong transcription	K562	blood
26	chr2:86251400-86261000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:86251400-86261000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:86251400-86261200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:86251400-86262000	Strong transcription	Osteobl	bone
30	chr2:86251400-86262800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:86251400-86263400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:86251600-86261600	Strong transcription	HMEC	breast
33	chr2:86251800-86259400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:86251800-86262000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:86251800-86262400	Strong transcription	Fetal Intestine Small	intestine
36	chr2:86252000-86262000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:86252200-86262000	Strong transcription	GM12878-XiMat	blood
39	chr2:86252200-86262400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:86252200-86262600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:86252400-86256600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:86252400-86256600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:86252400-86258800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:86252400-86261000	Strong transcription	Dnd41	blood
47	chr2:86252400-86261600	Strong transcription	Esophagus	oesophagus
48	chr2:86252400-86262200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:86252400-86262400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:86252400-86262400	Strong transcription	NHEK	skin

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