Variant report

Variant	rs8033938
Chromosome Location	chr15:40703114-40703115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40702415..40703948-chr15:40706457..40708796,2	K562	blood:
2	chr15:40702565..40704374-chr15:40706518..40708140,2	MCF-7	breast:
3	chr15:40657809..40661993-chr15:40702342..40704983,3	K562	blood:
4	chr15:40698036..40700084-chr15:40700377..40704412,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128928	Chromatin interaction
ENSG00000259368	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11541642	0.91[EUR][1000 genomes]
rs11557072	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858714	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905240	1.00[JPT][hapmap]
rs16970709	1.00[JPT][hapmap]
rs16970758	1.00[JPT][hapmap]
rs17671194	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17671250	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17672041	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17733008	1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053973	1.00[JPT][hapmap]
rs34088794	0.90[EUR][1000 genomes]
rs3803358	0.86[EUR][1000 genomes]
rs55788133	0.90[EUR][1000 genomes]
rs55982218	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679882	1.00[JPT][hapmap]
rs7164132	0.92[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7164321	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7166991	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7169262	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7169404	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7172000	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026523	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs8027487	0.87[EUR][1000 genomes]
rs8037207	0.89[EUR][1000 genomes]
rs8040755	0.89[EUR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs8033938	KNSTRN	cis	Skin Sun Exposed Lower leg	GTEx
rs8033938	KNSTRN	cis	Whole Blood	GTEx
rs8033938	C15orf23	cis	multi-tissue	Pritchard
rs8033938	KNSTRN	cis	Esophagus Mucosa	GTEx
rs8033938	KNSTRN	cis	Esophagus Muscularis	GTEx
rs8033938	KNSTRN	cis	Muscle Skeletal	GTEx
rs8033938	KNSTRN	cis	Nerve Tibial	GTEx
rs8033938	IVD	Cis_1M	lymphoblastoid	RTeQTL
rs8033938	KNSTRN	cis	lung	GTEx
rs8033938	C15orf23	Cis_1M	lymphoblastoid	RTeQTL
rs8033938	KNSTRN	cis	Artery Tibial	GTEx
rs8033938	KNSTRN	cis	Artery Aorta	GTEx
rs8033938	KNSTRN	cis	Adipose Subcutaneous	GTEx
rs8033938	IVD	cis	Nerve Tibial	GTEx
rs8033938	IVD	cis	lung	GTEx
rs8033938	KNSTRN	cis	Heart Left Ventricle	GTEx
rs8033938	IVD	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40698600-40712400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40698800-40707000	Weak transcription	Psoas Muscle	Psoas
3	chr15:40698800-40707600	Weak transcription	NHEK	skin
4	chr15:40698800-40709600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:40699000-40703200	Weak transcription	Stomach Mucosa	stomach
6	chr15:40699000-40714000	Weak transcription	Small Intestine	intestine
7	chr15:40699600-40704400	Strong transcription	Adipose Nuclei	Adipose
8	chr15:40699600-40704400	Strong transcription	Fetal Intestine Small	intestine
9	chr15:40699600-40704600	Strong transcription	Fetal Lung	lung
10	chr15:40699600-40710000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:40699600-40710800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:40699600-40710800	Strong transcription	Primary T cells from cord blood	blood
13	chr15:40699600-40711000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:40699600-40711000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:40699600-40711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:40699600-40711200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:40699600-40712400	Weak transcription	Right Atrium	heart
18	chr15:40699600-40714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:40699800-40704400	Strong transcription	Fetal Intestine Large	intestine
20	chr15:40699800-40709000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:40699800-40709200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:40699800-40709200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:40699800-40710800	Strong transcription	NHLF	lung
24	chr15:40699800-40711000	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr15:40699800-40711000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:40699800-40711000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:40699800-40711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:40699800-40711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:40699800-40711000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:40699800-40711000	Strong transcription	Osteobl	bone
33	chr15:40699800-40711400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr15:40699800-40712400	Strong transcription	Fetal Stomach	stomach
35	chr15:40700000-40703800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr15:40700000-40704200	Strong transcription	Colonic Mucosa	Colon
37	chr15:40700000-40705800	Strong transcription	NHDF-Ad	bronchial
38	chr15:40700000-40708400	Strong transcription	Rectal Smooth Muscle	rectum
39	chr15:40700000-40710600	Strong transcription	HSMM	muscle
40	chr15:40700000-40710800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:40700000-40710800	Strong transcription	Fetal Thymus	thymus
42	chr15:40700000-40711000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr15:40700000-40711000	Strong transcription	Left Ventricle	heart
44	chr15:40700000-40711000	Strong transcription	Lung	lung
45	chr15:40700000-40711400	Strong transcription	Fetal Muscle Leg	muscle
46	chr15:40700000-40711800	Strong transcription	Thymus	Thymus
47	chr15:40700000-40712200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:40700000-40712600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:40700200-40706800	Weak transcription	Fetal Heart	heart
50	chr15:40700200-40710800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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