Variant report

Variant	rs848521
Chromosome Location	chr2:36751443-36751444
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	chr2:36749468..36751853-chr2:36803823..36806536,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VIT-1	chr2:36750870-36751847	NONHSAT070083

Variant related genes	Relation type
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10490671	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs2023408	0.81[CEU][hapmap]
rs3770827	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs3770834	0.82[CEU][hapmap]
rs62136185	1.00[ASN][1000 genomes]
rs711247	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848520	0.86[CEU][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848524	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs848526	0.81[CEU][hapmap]
rs848563	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867701	0.88[CEU][hapmap]
rs884216	0.93[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:36726800-36751800	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:36727400-36757200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
8	chr2:36733000-36752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
10	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
11	chr2:36734600-36756800	Strong transcription	HepG2	liver
12	chr2:36735600-36754200	Strong transcription	Hela-S3	cervix
13	chr2:36735800-36752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:36736000-36755800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:36738200-36754000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:36738400-36751600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:36738400-36751600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:36738600-36754200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:36738800-36754000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:36739200-36751600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:36739200-36751800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr2:36739400-36757400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:36739600-36751800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:36740200-36754000	Strong transcription	Adipose Nuclei	Adipose
26	chr2:36740200-36754800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:36743800-36752400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:36744000-36752200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:36744000-36754200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:36744000-36754400	Strong transcription	HMEC	breast
31	chr2:36744000-36755600	Strong transcription	NH-A	brain
32	chr2:36744000-36756600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:36744200-36756600	Strong transcription	HSMM	muscle
34	chr2:36744800-36752600	Strong transcription	NHDF-Ad	bronchial
35	chr2:36744800-36754200	Strong transcription	HSMMtube	muscle
36	chr2:36744800-36764200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:36745000-36752000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:36745000-36752600	Strong transcription	NHLF	lung
39	chr2:36745000-36755600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:36745000-36756800	Strong transcription	Placenta	Placenta
41	chr2:36745000-36757800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:36746000-36753000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:36746600-36753000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
45	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
46	chr2:36747800-36774200	Weak transcription	Liver	Liver
47	chr2:36748000-36752400	Strong transcription	Osteobl	bone
48	chr2:36748000-36757400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:36748000-36757400	Weak transcription	Brain Substantia Nigra	brain
50	chr2:36748000-36764400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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