Variant report

Variant	rs12693578
Chromosome Location	chr2:191396188-191396189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191393388..191396315-chr2:191446782..191449171,2	K562	blood:
2	chr2:191385869..191388991-chr2:191394619..191398567,3	K562	blood:
3	chr2:191393746..191397306-chr2:191397440..191402907,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10165897	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10209172	0.98[ASN][1000 genomes]
rs12478437	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619560	0.80[AFR][1000 genomes]
rs13392968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4073873	0.80[AFR][1000 genomes]
rs4129697	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4146923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4500977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586658	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853509	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853708	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7584794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585173	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12693578	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs12693578	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191357200-191398200	Weak transcription	Fetal Kidney	kidney
2	chr2:191362800-191398200	Weak transcription	Fetal Brain Male	brain
3	chr2:191365200-191398000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:191365800-191397400	Weak transcription	Liver	Liver
5	chr2:191375200-191398600	Weak transcription	Ovary	ovary
6	chr2:191376000-191397800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:191379400-191397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:191379400-191398200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:191382600-191398400	Weak transcription	Psoas Muscle	Psoas
10	chr2:191385400-191397200	Weak transcription	Thymus	Thymus
11	chr2:191387400-191398600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:191390800-191397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:191391000-191397200	Enhancers	Primary T cells from cord blood	blood
14	chr2:191391200-191398400	Weak transcription	Small Intestine	intestine
15	chr2:191391200-191398600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:191392400-191397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:191392600-191397000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:191392600-191397400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:191392800-191396200	Enhancers	Fetal Intestine Large	intestine
20	chr2:191392800-191396400	Enhancers	K562	blood
21	chr2:191393000-191396200	Enhancers	Fetal Intestine Small	intestine
22	chr2:191393000-191397800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:191393200-191396200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:191393200-191398000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:191393200-191398200	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:191393200-191398600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:191393400-191398600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:191393400-191398600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:191393400-191398600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:191393600-191398400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:191393600-191398600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:191393800-191398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:191394000-191396200	Enhancers	Fetal Heart	heart
34	chr2:191394000-191396200	Enhancers	Left Ventricle	heart
35	chr2:191394000-191396200	Enhancers	Right Atrium	heart
36	chr2:191394000-191396400	Enhancers	Fetal Thymus	thymus
37	chr2:191394000-191398000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:191394000-191398200	Enhancers	Fetal Lung	lung
39	chr2:191394200-191396200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:191394200-191398200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr2:191394400-191396200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:191394400-191396200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:191394400-191396200	Enhancers	Osteobl	bone
44	chr2:191394600-191396200	Enhancers	Brain Angular Gyrus	brain
45	chr2:191394600-191397400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:191394600-191398000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:191394600-191398200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:191394600-191398200	Enhancers	NHEK	skin
49	chr2:191394800-191396400	Flanking Active TSS	GM12878-XiMat	blood
50	chr2:191394800-191397800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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