Variant report

Variant	rs12467086
Chromosome Location	chr2:173440945-173440946
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	chr2:173418730..173421118-chr2:173440176..173442867,3	K562	blood:
2	chr2:173418886..173422171-chr2:173440610..173444429,4	K562	blood:

Variant related genes	Relation type
ENSG00000225205	Chromatin interaction
ENSG00000152256	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10930561	1.00[EUR][1000 genomes]
rs10930563	1.00[EUR][1000 genomes]
rs10930564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860693	1.00[EUR][1000 genomes]
rs2357637	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8179584	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
2	chr2:173421800-173443600	Weak transcription	Ovary	ovary
3	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
4	chr2:173422000-173443600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:173423400-173441400	Weak transcription	Fetal Kidney	kidney
7	chr2:173423400-173451000	Weak transcription	Colonic Mucosa	Colon
8	chr2:173423600-173443600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:173424600-173447800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:173426200-173460600	Weak transcription	HSMMtube	muscle
11	chr2:173426800-173443600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:173429400-173441600	Weak transcription	Fetal Heart	heart
13	chr2:173430600-173461600	Weak transcription	Right Ventricle	heart
14	chr2:173431400-173443600	Weak transcription	Aorta	Aorta
15	chr2:173431400-173480600	Weak transcription	Gastric	stomach
16	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:173435000-173441400	Weak transcription	HSMM	muscle
18	chr2:173435600-173441600	Weak transcription	Hela-S3	cervix
19	chr2:173436000-173441000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:173436000-173445600	ZNF genes & repeats	GM12878-XiMat	blood
21	chr2:173436800-173443600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:173436800-173443600	Weak transcription	Esophagus	oesophagus
23	chr2:173436800-173444000	ZNF genes & repeats	Dnd41	blood
24	chr2:173437000-173451000	Weak transcription	Thymus	Thymus
25	chr2:173437000-173451800	Weak transcription	Spleen	Spleen
26	chr2:173437400-173449600	Weak transcription	Left Ventricle	heart
27	chr2:173437400-173452000	Weak transcription	Lung	lung
28	chr2:173437600-173441400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:173437600-173441600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:173437600-173443400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
31	chr2:173437600-173443800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:173437600-173449800	Weak transcription	Fetal Stomach	stomach
33	chr2:173437800-173442600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:173437800-173447000	Weak transcription	Placenta	Placenta
35	chr2:173438000-173445800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:173438200-173443400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:173438600-173441200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:173438600-173443200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
39	chr2:173438600-173445600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr2:173438800-173441800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr2:173438800-173442200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr2:173438800-173443800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:173439200-173442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:173439200-173444000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:173439200-173444000	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr2:173439200-173445600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:173439400-173441600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:173439400-173442800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:173439400-173443600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:173439800-173441400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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