Variant report

Variant	rs10454863
Chromosome Location	chr5:36238287-36238288
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	chr5:36150467..36154483-chr5:36238242..36244873,13	K562	blood:

Variant related genes	Relation type
ENSG00000164187	Chromatin interaction
ENSG00000145604	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10512639	0.96[CEU][hapmap]
rs10512640	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]
rs10941278	0.96[CEU][hapmap]
rs10941279	0.96[CEU][hapmap]
rs10941281	0.96[CEU][hapmap]
rs10941285	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11739323	0.87[CEU][hapmap]
rs11745827	0.87[CEU][hapmap]
rs11948581	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11952882	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12186384	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12189205	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12522905	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs13153581	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13154338	0.91[ASN][1000 genomes]
rs13154462	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13160147	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13162876	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13163528	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13166148	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13174281	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13174907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13178531	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13179201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180677	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13185969	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16902835	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2362977	0.87[CEU][hapmap]
rs2362979	0.87[CEU][hapmap]
rs3088073	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3761973	0.96[CEU][hapmap]
rs3789758	0.87[CEU][hapmap]
rs4869475	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs62356073	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6451261	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6865319	0.88[ASN][1000 genomes]
rs6881318	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs6884331	0.87[CEU][hapmap]
rs6890702	0.87[CEU][hapmap]
rs72744564	0.81[EUR][1000 genomes]
rs72744565	0.80[EUR][1000 genomes]
rs732328	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7703895	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7705641	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7710062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7716788	0.92[CEU][hapmap]
rs7719357	0.92[CEU][hapmap]
rs7719686	0.87[CEU][hapmap]
rs7723157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7731023	0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7736943	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[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
rs10454863	C5orf33	cis	parietal	SCAN
rs10454863	OSMR	cis	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36198000-36238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:36200200-36239400	Weak transcription	Fetal Brain Male	brain
3	chr5:36201400-36240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:36221200-36238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:36221600-36238600	Weak transcription	Fetal Stomach	stomach
6	chr5:36221600-36239800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:36225600-36239800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:36226000-36239800	Weak transcription	Fetal Brain Female	brain
9	chr5:36226000-36240400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:36226000-36240400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:36226400-36239200	Weak transcription	Brain Angular Gyrus	brain
12	chr5:36226600-36239200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:36226600-36239400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:36226600-36240000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:36227000-36239200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:36230600-36239000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:36231400-36238600	Weak transcription	HSMMtube	muscle
18	chr5:36231400-36239600	Weak transcription	HSMM	muscle
19	chr5:36231400-36240000	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:36231800-36239800	Weak transcription	Brain Substantia Nigra	brain
21	chr5:36233600-36241000	Weak transcription	Gastric	stomach
22	chr5:36235800-36239800	Weak transcription	Fetal Kidney	kidney
23	chr5:36236200-36240000	Enhancers	Fetal Intestine Small	intestine
24	chr5:36236400-36238600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:36236400-36239000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:36236400-36239200	Enhancers	HepG2	liver
27	chr5:36236600-36238600	Enhancers	Small Intestine	intestine
28	chr5:36236600-36240200	Enhancers	Fetal Intestine Large	intestine
29	chr5:36236800-36238600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:36237000-36239800	Enhancers	Brain Hippocampus Middle	brain
31	chr5:36237000-36239800	Enhancers	Rectal Smooth Muscle	rectum
32	chr5:36237000-36240000	Enhancers	NHEK	skin
33	chr5:36237000-36240400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:36237000-36240600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:36237200-36238400	Weak transcription	GM12878-XiMat	blood
36	chr5:36237200-36239600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:36237200-36239800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:36237200-36240000	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:36237200-36240600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:36237400-36238400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:36237400-36238400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:36237400-36238400	Flanking Active TSS	K562	blood
43	chr5:36237400-36239000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:36237400-36239200	Enhancers	Brain Germinal Matrix	brain
45	chr5:36237400-36240600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr5:36237600-36239800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr5:36237600-36240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:36237600-36240200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:36237600-36240800	Flanking Active TSS	Liver	Liver
50	chr5:36237800-36238400	Enhancers	Brain Anterior Caudate	brain

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