Variant report

Variant	rs7167078
Chromosome Location	chr15:41972392-41972393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41971306..41973909-chr15:41977084..41979725,2	K562	blood:
2	chr15:41965662..41968571-chr15:41970591..41972884,2	K562	blood:
3	chr15:41953002..41954735-chr15:41971952..41974245,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1122884	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs11630972	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631051	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11632519	1.00[JPT][hapmap]
rs11634083	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs11634582	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11634804	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11636523	0.86[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs1197667	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1197669	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs1197671	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1197672	0.96[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs1197703	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs1197705	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs12148570	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906666	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12917387	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676332	1.00[JPT][hapmap]
rs17677098	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17677757	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[EUR][1000 genomes]
rs17678310	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs2178003	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs2925339	0.96[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs34621600	0.86[EUR][1000 genomes]
rs35665813	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35714979	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61104950	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62003901	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175318	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040094	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042809	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs9646193	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	nsv1049514	chr15:41958482-42081210	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7167078	SPTBN5	cis	lung	GTEx
rs7167078	MAPKBP1	cis	multi-tissue	Pritchard
rs7167078	SPTBN5	cis	Artery Tibial	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41954400-41978600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:41954400-41982800	Weak transcription	Small Intestine	intestine
3	chr15:41954600-41976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:41954600-41983800	Weak transcription	Thymus	Thymus
5	chr15:41954600-42001000	Weak transcription	Colonic Mucosa	Colon
6	chr15:41954800-41976200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:41954800-41980800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:41955000-41972600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:41955000-41988200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:41958400-41978400	Weak transcription	Pancreas	Pancrea
11	chr15:41958800-41973400	Weak transcription	HMEC	breast
12	chr15:41959400-41988600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:41959400-41989000	Weak transcription	NHDF-Ad	bronchial
14	chr15:41959600-41981000	Weak transcription	Osteobl	bone
15	chr15:41961600-41975400	Weak transcription	Aorta	Aorta
16	chr15:41961800-41990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:41962000-41980200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:41962000-41983800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:41962000-41988400	Weak transcription	Adipose Nuclei	Adipose
20	chr15:41962000-41990800	Weak transcription	NH-A	brain
21	chr15:41962000-41991200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:41962000-42001400	Weak transcription	Gastric	stomach
23	chr15:41962200-41974800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:41962200-41984400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:41962200-42001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:41962600-41973000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:41962600-41981400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:41962600-41981800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr15:41962600-41983400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:41962600-41983600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:41962600-41984000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:41962600-41988400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:41963400-41988400	Weak transcription	Placenta	Placenta
34	chr15:41963600-41987800	Weak transcription	Primary B cells from cord blood	blood
35	chr15:41964400-41973600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr15:41964400-41975800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:41964600-41981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:41964600-41982200	Weak transcription	Ovary	ovary
39	chr15:41964800-41972600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:41964800-41974800	Weak transcription	Primary T cells from cord blood	blood
41	chr15:41964800-41983800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:41965000-41980600	Weak transcription	K562	blood
43	chr15:41965000-41982400	Weak transcription	Brain Anterior Caudate	brain
44	chr15:41966600-41984400	Weak transcription	Left Ventricle	heart
45	chr15:41966600-41988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:41967200-41972600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:41967600-41976400	Weak transcription	A549	lung
48	chr15:41967600-41976400	Weak transcription	HepG2	liver
49	chr15:41967600-41982600	Weak transcription	GM12878-XiMat	blood
50	chr15:41967800-41972600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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