Variant report

Variant	rs2291443
Chromosome Location	chr11:47179861-47179862
allele	G/T
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	chr11:47179475..47181210-chr11:47184967..47187078,2	MCF-7	breast:
5	chr11:47173854..47175804-chr11:47178111..47180557,3	K562	blood:
6	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];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12365578	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12803718	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1685404	0.84[CHB][hapmap]
rs17787966	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs2291444	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];0.99[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];0.99[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901750	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2291443	PACSIN3	cis	parietal	SCAN
rs2291443	CKAP5	cis	parietal	SCAN
rs2291443	C1QTNF4	cis	lymphoblastoid	seeQTL
rs2291443	LRP4-AS1	cis	Nerve Tibial	GTEx
rs2291443	CTD-2384B9.1	cis	Nerve Tibial	GTEx
rs2291443	MADD	cis	parietal	SCAN
rs2291443	NUP160	cis	cerebellum	SCAN
rs2291443	C1QTNF4	cis	multi-tissue	Pritchard
rs2291443	LRP4	cis	Nerve Tibial	GTEx

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	chr11:47174800-47182400	Weak transcription	Right Ventricle	heart
9	chr11:47174800-47183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:47174800-47185600	Weak transcription	Left Ventricle	heart
11	chr11:47175200-47182400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:47175200-47182400	Weak transcription	Brain Substantia Nigra	brain
13	chr11:47175200-47182400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:47175200-47182800	Weak transcription	Liver	Liver
15	chr11:47175200-47183000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:47175200-47183400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:47175200-47183400	Weak transcription	HepG2	liver
18	chr11:47175200-47185600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:47175200-47185600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:47175200-47185800	Weak transcription	Small Intestine	intestine
21	chr11:47175200-47186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47175200-47188600	Weak transcription	Fetal Heart	heart
23	chr11:47175400-47183400	Weak transcription	Colonic Mucosa	Colon
24	chr11:47175400-47183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:47175400-47183600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:47175400-47184000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:47175400-47185400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:47175400-47185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:47175400-47185600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:47175400-47185600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:47175400-47185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:47175400-47186000	Weak transcription	HUVEC	blood vessel
33	chr11:47175400-47186600	Weak transcription	Fetal Kidney	kidney
34	chr11:47175400-47197600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:47176000-47196600	Strong transcription	Fetal Intestine Small	intestine
36	chr11:47176200-47183600	Weak transcription	Osteobl	bone
37	chr11:47176200-47185600	Weak transcription	HSMM	muscle
38	chr11:47176200-47187800	Weak transcription	NHDF-Ad	bronchial
39	chr11:47176600-47183600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:47176600-47188600	Weak transcription	Fetal Brain Male	brain
41	chr11:47176800-47180000	Strong transcription	Lung	lung
42	chr11:47176800-47181800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:47176800-47182000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:47176800-47193000	Strong transcription	Fetal Brain Female	brain
45	chr11:47176800-47196600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:47177000-47180400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:47177000-47181800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:47177000-47186200	Weak transcription	GM12878-XiMat	blood
49	chr11:47177200-47183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:47177200-47184600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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