Variant report

Variant	rs2291444
Chromosome Location	chr11:47179143-47179144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46941459..46943862-chr11:47177882..47181133,3	K562	blood:
2	chr11:47168309..47170720-chr11:47177282..47180012,2	MCF-7	breast:
3	chr11:47169495..47172092-chr11:47178251..47181077,2	K562	blood:
4	chr11:47173854..47175804-chr11:47178111..47180557,3	K562	blood:
5	chr11:47176955..47179833-chr11:47182834..47185275,2	K562	blood:
6	chr11:47108705..47111315-chr11:47177201..47179314,2	K562	blood:
7	chr11:46386393..46389362-chr11:47178961..47181190,2	K562	blood:

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11039076	0.83[ASN][1000 genomes]
rs11039122	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12365578	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12803718	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1685404	0.84[CHB][hapmap]
rs17787966	0.96[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[ASN][1000 genomes]
rs2291443	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740690	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7130812	0.90[GIH][hapmap]
rs752848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901750	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2291444	C1QTNF4	cis	lymphoblastoid	seeQTL
rs2291444	PACSIN3	cis	parietal	SCAN
rs2291444	CKAP5	cis	parietal	SCAN
rs2291444	LRP4	cis	Nerve Tibial	GTEx
rs2291444	NUP160	cis	cerebellum	SCAN
rs2291444	C1QTNF4	cis	multi-tissue	Pritchard
rs2291444	CTD-2384B9.1	cis	Nerve Tibial	GTEx
rs2291444	LRP4-AS1	cis	Nerve Tibial	GTEx
rs2291444	MADD	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47165000-47184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:47165000-47185000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:47165200-47185600	Weak transcription	Aorta	Aorta
4	chr11:47165400-47188600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:47171000-47183400	Weak transcription	Gastric	stomach
6	chr11:47171400-47186000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:47171600-47186400	Weak transcription	Psoas Muscle	Psoas
8	chr11:47174800-47179200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:47174800-47182400	Weak transcription	Right Ventricle	heart
10	chr11:47174800-47183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:47174800-47185600	Weak transcription	Left Ventricle	heart
12	chr11:47175200-47179400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:47175200-47182400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:47175200-47182400	Weak transcription	Brain Substantia Nigra	brain
15	chr11:47175200-47182400	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:47175200-47182800	Weak transcription	Liver	Liver
17	chr11:47175200-47183000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:47175200-47183400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:47175200-47183400	Weak transcription	HepG2	liver
20	chr11:47175200-47185600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:47175200-47185600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:47175200-47185800	Weak transcription	Small Intestine	intestine
23	chr11:47175200-47186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:47175200-47188600	Weak transcription	Fetal Heart	heart
25	chr11:47175400-47179400	Weak transcription	Adipose Nuclei	Adipose
26	chr11:47175400-47179400	Weak transcription	Brain Angular Gyrus	brain
27	chr11:47175400-47183400	Weak transcription	Colonic Mucosa	Colon
28	chr11:47175400-47183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:47175400-47183600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:47175400-47184000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:47175400-47185400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:47175400-47185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:47175400-47185600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:47175400-47185600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:47175400-47185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:47175400-47186000	Weak transcription	HUVEC	blood vessel
37	chr11:47175400-47186600	Weak transcription	Fetal Kidney	kidney
38	chr11:47175400-47197600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:47175600-47179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:47176000-47196600	Strong transcription	Fetal Intestine Small	intestine
41	chr11:47176200-47183600	Weak transcription	Osteobl	bone
42	chr11:47176200-47185600	Weak transcription	HSMM	muscle
43	chr11:47176200-47187800	Weak transcription	NHDF-Ad	bronchial
44	chr11:47176400-47179800	Genic enhancers	Brain Inferior Temporal Lobe	brain
45	chr11:47176600-47183600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:47176600-47188600	Weak transcription	Fetal Brain Male	brain
47	chr11:47176800-47179600	Strong transcription	Fetal Intestine Large	intestine
48	chr11:47176800-47180000	Strong transcription	Lung	lung
49	chr11:47176800-47181800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:47176800-47182000	Strong transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links