Variant report

Variant	rs11886615
Chromosome Location	chr2:74101333-74101334
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	chr2:74097431..74099380-chr2:74100945..74102785,2	K562	blood:
2	chr2:74097880..74100787-chr2:74100945..74103812,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1036113	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10519327	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11126420	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11885317	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13387647	0.80[CHB][hapmap]
rs13397133	0.81[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs17009417	0.90[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap]
rs17009421	0.90[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap]
rs17009424	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs17009428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17009429	0.90[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap]
rs17009430	0.90[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap]
rs17009433	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs17009436	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs2070581	0.80[CHB][hapmap]
rs2163539	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2303987	0.90[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap]
rs33990056	0.93[ASN][1000 genomes]
rs3738846	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3813229	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs3813232	0.80[CHB][hapmap]
rs4852983	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs56383013	0.83[ASN][1000 genomes]
rs56801363	0.84[ASN][1000 genomes]
rs57394861	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61091264	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546875	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6726010	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs6737597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594485	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7606408	0.84[ASN][1000 genomes]
rs9309477	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9808106	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9808471	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11886615	STAMBP	cis	cerebellum	SCAN
rs11886615	CCT7	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74092000-74101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:74092800-74104600	Weak transcription	Hela-S3	cervix
3	chr2:74093400-74102200	Weak transcription	Psoas Muscle	Psoas
4	chr2:74093800-74101800	Weak transcription	HepG2	liver
5	chr2:74094000-74102000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:74094200-74101400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:74094200-74101400	Weak transcription	Lung	lung
8	chr2:74094200-74101600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:74094200-74101600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:74094200-74103400	Weak transcription	Fetal Thymus	thymus
11	chr2:74094200-74104000	Weak transcription	NHEK	skin
12	chr2:74094200-74104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:74094200-74104400	Weak transcription	K562	blood
14	chr2:74094200-74104600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:74094400-74103000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:74094400-74103800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:74094400-74104000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:74094400-74104200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:74094400-74104600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:74094800-74104600	Weak transcription	GM12878-XiMat	blood
21	chr2:74097600-74102600	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:74097600-74114600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:74097800-74104200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:74098000-74101400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:74098000-74101800	Weak transcription	Primary T cells from cord blood	blood
26	chr2:74098000-74101800	Weak transcription	Osteobl	bone
27	chr2:74098000-74102200	Weak transcription	NH-A	brain
28	chr2:74098000-74103200	Weak transcription	Placenta	Placenta
29	chr2:74098000-74104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:74098000-74104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:74098000-74104600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:74098400-74104200	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:74098600-74102000	Weak transcription	Fetal Stomach	stomach
34	chr2:74099600-74101800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:74099800-74101600	Weak transcription	Liver	Liver
36	chr2:74099800-74103400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:74099800-74104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:74100000-74102200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:74100000-74104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:74100400-74101400	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:74100400-74102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:74100400-74102200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:74100400-74103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:74100600-74104800	Weak transcription	Adipose Nuclei	Adipose
45	chr2:74100800-74101600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:74101000-74104000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:74101200-74101400	Enhancers	Rectal Smooth Muscle	rectum

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