Variant report

Variant	rs11050204
Chromosome Location	chr12:29492974-29492975
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	chr12:29491567..29494564-chr12:29531936..29534228,2	K562	blood:

Variant related genes	Relation type
ENSG00000087502	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10843354	1.00[AMR][1000 genomes]
rs10843355	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10843356	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10843364	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10843374	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10843389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10843392	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10843394	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11050178	0.86[ASN][1000 genomes]
rs11050179	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11050180	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11050206	1.00[ASN][1000 genomes]
rs11050207	0.93[ASN][1000 genomes]
rs12228116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12229024	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12299290	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12303490	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12304963	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12306862	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307403	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308135	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12310050	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12311282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16934213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1836861	1.00[YRI][hapmap]
rs28825120	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7305232	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9651841	0.93[ASN][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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
2	chr12:29452800-29494200	Weak transcription	Lung	lung
3	chr12:29459400-29493000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:29462600-29533000	Weak transcription	Aorta	Aorta
5	chr12:29465000-29494200	Weak transcription	Colonic Mucosa	Colon
6	chr12:29470000-29495600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:29470000-29500000	Weak transcription	K562	blood
8	chr12:29470800-29493400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:29470800-29493800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:29470800-29496000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:29470800-29508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:29470800-29532800	Weak transcription	Right Ventricle	heart
13	chr12:29471200-29493000	Weak transcription	Brain Substantia Nigra	brain
14	chr12:29471200-29494400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:29471400-29495800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:29472200-29493800	Weak transcription	Left Ventricle	heart
17	chr12:29473800-29493000	Weak transcription	HMEC	breast
18	chr12:29473800-29522600	Weak transcription	NHEK	skin
19	chr12:29474000-29493400	Weak transcription	HUVEC	blood vessel
20	chr12:29474200-29493000	Weak transcription	Osteobl	bone
21	chr12:29474200-29494200	Weak transcription	NHDF-Ad	bronchial
22	chr12:29474800-29493800	Weak transcription	Fetal Intestine Large	intestine
23	chr12:29475800-29493200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:29475800-29493400	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:29476000-29496000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:29476000-29502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:29476200-29493800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:29476200-29509400	Weak transcription	Spleen	Spleen
29	chr12:29476200-29512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:29476200-29533400	Weak transcription	Pancreas	Pancrea
31	chr12:29476400-29493000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:29476400-29493600	Weak transcription	Primary T cells from cord blood	blood
33	chr12:29476400-29494200	Weak transcription	Fetal Stomach	stomach
34	chr12:29476400-29498600	Weak transcription	Ovary	ovary
35	chr12:29476400-29509600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:29476400-29532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:29476400-29533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:29476600-29494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:29476600-29499200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:29477000-29493800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:29477000-29517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:29477200-29494200	Weak transcription	Fetal Intestine Small	intestine
43	chr12:29482000-29497200	Weak transcription	Brain Angular Gyrus	brain
44	chr12:29482200-29501400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:29483400-29518000	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:29483800-29496000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:29484200-29532000	Weak transcription	Fetal Brain Male	brain
48	chr12:29485000-29493600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:29485000-29495800	Weak transcription	Fetal Kidney	kidney
50	chr12:29485400-29494200	Weak transcription	Fetal Brain Female	brain

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