Variant report

Variant	rs9646748
Chromosome Location	chr2:191301368-191301369
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	chr2:191300907..191304417-chr2:191304488..191309004,4	K562	blood:
2	chr2:191272728..191274553-chr2:191298568..191301564,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10182754	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10193212	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931452	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11886184	0.85[AFR][1000 genomes]
rs12475614	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613807	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693574	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12693575	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12998288	0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13020324	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13409841	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1440988	0.85[AFR][1000 genomes]
rs1440989	0.85[AFR][1000 genomes]
rs2354877	0.87[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2354878	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35095338	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3811607	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129081	0.83[ASW][hapmap]
rs4853507	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4853702	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4853705	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853711	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4853713	0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434391	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6707691	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6748034	0.82[AFR][1000 genomes]
rs7557681	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7560318	0.83[ASW][hapmap]
rs7564829	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7596573	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7603607	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9646815	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9646748	HIBCH	cis	cerebellum	SCAN
rs9646748	MFSD6	cis	parietal	SCAN
rs9646748	ZC3H15	cis	cerebellum	SCAN
rs9646748	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs9646748	C2orf88	cis	parietal	SCAN
rs9646748	MFSD6	cis	lymphoblastoid	seeQTL
rs9646748	FLJ20160	cis	multi-tissue	Pritchard

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191273800-191301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191279200-191303000	Weak transcription	NHEK	skin
3	chr2:191284200-191311000	Weak transcription	Psoas Muscle	Psoas
4	chr2:191293200-191301600	Weak transcription	A549	lung
5	chr2:191296800-191311400	Weak transcription	Fetal Lung	lung
6	chr2:191297000-191301600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:191297200-191306200	Weak transcription	K562	blood
8	chr2:191297400-191305600	Weak transcription	Small Intestine	intestine
9	chr2:191298400-191304600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:191298400-191306000	Weak transcription	Fetal Kidney	kidney
11	chr2:191298600-191309000	Weak transcription	Stomach Mucosa	stomach
12	chr2:191299400-191304000	Weak transcription	Placenta	Placenta
13	chr2:191299600-191301800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:191299600-191308800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:191299800-191301600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:191299800-191305600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:191300400-191301600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:191300400-191302800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:191300600-191302000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:191300600-191303400	Strong transcription	Dnd41	blood
21	chr2:191300600-191303600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:191300600-191303600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:191300600-191305000	Strong transcription	Primary B cells from cord blood	blood
24	chr2:191300800-191301400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:191300800-191301400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:191300800-191302200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:191300800-191302200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:191300800-191302200	Strong transcription	Aorta	Aorta
29	chr2:191300800-191302200	Strong transcription	Esophagus	oesophagus
30	chr2:191300800-191302200	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:191300800-191302400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:191300800-191302400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:191300800-191302600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr2:191300800-191302800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:191300800-191302800	Strong transcription	Primary T cells from cord blood	blood
36	chr2:191300800-191302800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:191300800-191302800	Strong transcription	Colonic Mucosa	Colon
38	chr2:191300800-191302800	Strong transcription	Fetal Brain Female	brain
39	chr2:191300800-191302800	Strong transcription	Fetal Thymus	thymus
40	chr2:191300800-191303200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:191300800-191303400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:191300800-191303400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:191300800-191303400	Strong transcription	Thymus	Thymus
44	chr2:191300800-191303800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:191300800-191303800	Strong transcription	Brain Germinal Matrix	brain
46	chr2:191300800-191303800	Strong transcription	Fetal Intestine Large	intestine
47	chr2:191300800-191304400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:191301000-191301400	Genic enhancers	Primary hematopoietic stem cells	blood
49	chr2:191301000-191301400	Genic enhancers	Brain Hippocampus Middle	brain
50	chr2:191301000-191301600	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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