Variant report

Variant	rs34344432
Chromosome Location	chr2:12201540-12201541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12200110..12202419-chr2:12206699..12209506,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11675258	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11675302	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41417950	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55824035	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56139916	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58281155	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6744880	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72777651	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12196600-12202200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:12197200-12202600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:12198400-12204000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:12198600-12207200	Weak transcription	Spleen	Spleen
5	chr2:12198800-12201600	Enhancers	NHDF-Ad	bronchial
6	chr2:12198800-12203200	Enhancers	Fetal Stomach	stomach
7	chr2:12199400-12202800	Enhancers	Fetal Lung	lung
8	chr2:12199800-12202000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:12200000-12202000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:12200000-12202200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:12200000-12203600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:12200200-12203800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:12200400-12201600	Weak transcription	NHLF	lung
14	chr2:12200400-12203600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:12200400-12204000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:12200600-12207000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:12200800-12201600	Enhancers	K562	blood
18	chr2:12200800-12201800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:12200800-12202200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:12200800-12202600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:12201200-12202000	Weak transcription	Ovary	ovary
22	chr2:12201400-12201600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:12201400-12202000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:12201400-12202800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:12201400-12202800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links