Variant report

Variant	rs7181261
Chromosome Location	chr15:75355583-75355584
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75354485..75356101-chr15:75356641..75358451,2	K562	blood:
2	chr15:75335307..75337895-chr15:75354566..75358468,3	K562	blood:
3	chr15:75333748..75335630-chr15:75354954..75357925,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138621	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11854975	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12101482	0.82[EUR][1000 genomes]
rs12148488	0.81[EUR][1000 genomes]
rs12898551	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12899062	0.82[EUR][1000 genomes]
rs12900072	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12904227	0.81[EUR][1000 genomes]
rs1867148	0.82[EUR][1000 genomes]
rs1867149	0.82[EUR][1000 genomes]
rs2304902	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35078352	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35116156	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3812945	0.89[ASN][1000 genomes]
rs4886417	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886648	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886655	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6495144	0.82[EUR][1000 genomes]
rs6495150	0.80[EUR][1000 genomes]
rs67168917	0.80[EUR][1000 genomes]
rs7163362	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7163636	0.82[EUR][1000 genomes]
rs7167261	0.82[EUR][1000 genomes]
rs8028129	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8039755	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7181261	COX5A	Cis_1M	lymphoblastoid	RTeQTL
rs7181261	SCAMP5	cis	Artery Tibial	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75340000-75360600	Weak transcription	Gastric	stomach
2	chr15:75340200-75359400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr15:75340800-75357600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:75341000-75356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:75341200-75357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:75342000-75357200	Weak transcription	Small Intestine	intestine
7	chr15:75342200-75357600	Weak transcription	Aorta	Aorta
8	chr15:75342400-75357400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:75342600-75357000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:75342600-75357600	Weak transcription	Hela-S3	cervix
11	chr15:75342600-75364800	Weak transcription	Primary T cells from cord blood	blood
12	chr15:75342800-75357400	Weak transcription	Thymus	Thymus
13	chr15:75342800-75361600	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:75343200-75357400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:75346400-75361600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:75347000-75356200	Weak transcription	Ovary	ovary
17	chr15:75347000-75364000	Weak transcription	Brain Substantia Nigra	brain
18	chr15:75350600-75357000	Weak transcription	Adipose Nuclei	Adipose
19	chr15:75351000-75357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:75351000-75358200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:75351200-75355600	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:75351200-75356400	Weak transcription	Fetal Thymus	thymus
23	chr15:75351200-75356800	Weak transcription	Fetal Intestine Large	intestine
24	chr15:75351200-75357400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:75351200-75357600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:75351200-75357800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:75351200-75358000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr15:75351200-75358000	Weak transcription	Right Ventricle	heart
29	chr15:75351200-75358000	Weak transcription	NHEK	skin
30	chr15:75351200-75358200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:75352400-75356600	Weak transcription	Fetal Intestine Small	intestine
32	chr15:75352400-75357000	Weak transcription	Fetal Stomach	stomach
33	chr15:75352400-75358000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:75353000-75357000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:75353400-75355800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:75353600-75358400	Enhancers	Right Atrium	heart
37	chr15:75353800-75356000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:75353800-75356400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:75353800-75357400	Weak transcription	K562	blood
40	chr15:75354000-75356400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:75354000-75356400	Weak transcription	Spleen	Spleen
42	chr15:75354000-75357000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:75354000-75357400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:75354000-75357600	Weak transcription	NH-A	brain
45	chr15:75354000-75357800	Weak transcription	Colonic Mucosa	Colon
46	chr15:75354200-75356600	Weak transcription	HSMMtube	muscle
47	chr15:75354200-75356800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr15:75354200-75357200	Weak transcription	HMEC	breast
49	chr15:75354200-75357200	Weak transcription	HSMM	muscle
50	chr15:75354200-75359000	Weak transcription	NHDF-Ad	bronchial

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