Variant report

Variant	rs10512640
Chromosome Location	chr5:36226350-36226351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36200225..36203141-chr5:36225275..36227713,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10454863	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10512639	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10941278	0.96[CEU][hapmap]
rs10941279	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10941281	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs10941285	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11739323	0.87[CEU][hapmap]
rs11745827	0.87[CEU][hapmap]
rs11747546	0.81[EUR][1000 genomes]
rs11948581	1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11952882	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186384	1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189205	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522905	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs13153581	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13154338	0.98[ASN][1000 genomes]
rs13154462	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160147	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs13162876	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163528	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166148	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13174281	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13174907	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178531	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179201	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13180677	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13185969	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16902835	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2362977	0.87[CEU][hapmap]
rs2362979	0.87[CEU][hapmap]
rs3088073	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35647151	0.81[EUR][1000 genomes]
rs3761973	0.96[CEU][hapmap]
rs3789758	0.87[CEU][hapmap]
rs4869475	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs62356073	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6451261	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67399512	0.81[EUR][1000 genomes]
rs6865319	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6881318	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6884331	0.87[CEU][hapmap]
rs6890702	0.87[CEU][hapmap]
rs732328	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7703895	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7705641	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7710062	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716788	0.92[CEU][hapmap]
rs7719357	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7719686	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7723157	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731023	0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs7736943	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10512640	OSMR	cis	cerebellum	SCAN
rs10512640	C5orf33	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36172000-36229200	Weak transcription	Colonic Mucosa	Colon
2	chr5:36179000-36230000	Weak transcription	Psoas Muscle	Psoas
3	chr5:36190600-36227400	Weak transcription	Thymus	Thymus
4	chr5:36191800-36230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:36192600-36227800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:36196600-36236600	Weak transcription	GM12878-XiMat	blood
7	chr5:36198000-36238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:36200000-36229600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:36200200-36239400	Weak transcription	Fetal Brain Male	brain
10	chr5:36201200-36230200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:36201400-36240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:36203800-36227000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:36204000-36227000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:36205200-36226800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:36212400-36226800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr5:36213200-36230200	Weak transcription	Brain Germinal Matrix	brain
17	chr5:36213200-36237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:36213400-36227600	Weak transcription	NH-A	brain
19	chr5:36215200-36236600	Weak transcription	Small Intestine	intestine
20	chr5:36215800-36237800	Weak transcription	HMEC	breast
21	chr5:36216800-36228400	Weak transcription	HUVEC	blood vessel
22	chr5:36219000-36226600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:36219000-36227000	Strong transcription	HepG2	liver
24	chr5:36219200-36226600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:36219200-36226800	Strong transcription	Adipose Nuclei	Adipose
26	chr5:36219400-36226600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:36219600-36230000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:36219800-36227000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:36220200-36226600	Strong transcription	Brain Anterior Caudate	brain
30	chr5:36220600-36226600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:36221000-36226600	Strong transcription	Liver	Liver
32	chr5:36221000-36230200	Weak transcription	K562	blood
33	chr5:36221200-36230000	Weak transcription	HSMMtube	muscle
34	chr5:36221200-36230400	Weak transcription	Lung	lung
35	chr5:36221200-36238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:36221400-36226800	Weak transcription	Right Ventricle	heart
37	chr5:36221400-36229600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:36221600-36226800	Weak transcription	Esophagus	oesophagus
39	chr5:36221600-36230000	Weak transcription	Pancreas	Pancrea
40	chr5:36221600-36230200	Weak transcription	Gastric	stomach
41	chr5:36221600-36232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:36221600-36235600	Weak transcription	Fetal Kidney	kidney
43	chr5:36221600-36236200	Weak transcription	Fetal Intestine Small	intestine
44	chr5:36221600-36238600	Weak transcription	Fetal Stomach	stomach
45	chr5:36221600-36239800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:36222000-36228000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:36222200-36228000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:36222200-36228200	Weak transcription	A549	lung
49	chr5:36222400-36226800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:36222600-36226600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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