Variant report

Variant	rs13160147
Chromosome Location	chr5:36191407-36191408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36190073..36192380-chr5:36239520..36241863,2	K562	blood:
2	chr5:36190171..36192494-chr5:36233425..36235880,2	K562	blood:
3	chr5:36190551..36192608-chr5:36240380..36242557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152620	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10454863	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10512640	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs10941285	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs11948581	1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs11952882	0.98[ASN][1000 genomes]
rs12186384	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12189205	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs13153581	0.82[ASN][1000 genomes]
rs13154338	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154462	0.98[ASN][1000 genomes]
rs13162876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13163528	0.98[ASN][1000 genomes]
rs13166148	0.82[ASN][1000 genomes]
rs13174281	0.95[ASN][1000 genomes]
rs13174907	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs13178531	0.98[ASN][1000 genomes]
rs13179201	0.91[ASN][1000 genomes]
rs13185969	0.98[ASN][1000 genomes]
rs3088073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs6451261	0.98[ASN][1000 genomes]
rs6865319	0.93[ASN][1000 genomes]
rs732328	0.82[ASN][1000 genomes]
rs7703895	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs7705641	0.82[ASN][1000 genomes]
rs7710062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7723157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7731023	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs7736943	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13160147	CAPSL	cis	cerebellum	SCAN
rs13160147	OSMR	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36154400-36210800	Weak transcription	Small Intestine	intestine
2	chr5:36163800-36200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:36164800-36220800	Weak transcription	Gastric	stomach
4	chr5:36169200-36193200	Weak transcription	Pancreas	Pancrea
5	chr5:36169600-36202400	Weak transcription	Fetal Heart	heart
6	chr5:36171800-36220600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:36172000-36229200	Weak transcription	Colonic Mucosa	Colon
8	chr5:36174200-36195200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:36175000-36191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:36175200-36202400	Weak transcription	Right Ventricle	heart
11	chr5:36175200-36220800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:36175600-36195800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:36175600-36222400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:36179000-36222800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:36179000-36230000	Weak transcription	Psoas Muscle	Psoas
16	chr5:36179200-36199800	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:36179200-36210400	Weak transcription	Fetal Kidney	kidney
18	chr5:36179200-36212600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:36180400-36194800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:36180800-36197400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:36181200-36195000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:36181200-36202600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:36181400-36200600	Weak transcription	NHEK	skin
24	chr5:36181400-36212800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:36181800-36195000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:36181800-36195000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:36182200-36191600	Weak transcription	Primary B cells from cord blood	blood
28	chr5:36182200-36192600	Weak transcription	NHDF-Ad	bronchial
29	chr5:36182200-36195000	Weak transcription	HMEC	breast
30	chr5:36182200-36195200	Weak transcription	K562	blood
31	chr5:36182200-36195400	Weak transcription	NHLF	lung
32	chr5:36182200-36200800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:36182200-36214800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:36182400-36193800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:36182400-36194400	Weak transcription	HUVEC	blood vessel
36	chr5:36182400-36194600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:36182400-36195200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:36182400-36195400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:36182400-36195800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:36182600-36194600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:36182800-36194000	Weak transcription	NH-A	brain
42	chr5:36182800-36194400	Weak transcription	HepG2	liver
43	chr5:36182800-36195000	Weak transcription	Primary T cells from cord blood	blood
44	chr5:36182800-36195000	Weak transcription	Brain Anterior Caudate	brain
45	chr5:36182800-36195200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:36182800-36198200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:36182800-36220400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:36182800-36220600	Weak transcription	Brain Angular Gyrus	brain
49	chr5:36183000-36195000	Weak transcription	Brain Substantia Nigra	brain
50	chr5:36183200-36194000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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