Variant report

Variant	rs7166991
Chromosome Location	chr15:40671957-40671958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr15:40671954-40672449	Hela-S3	cervix:	n/a	chr15:40671960-40671969
2	RCOR1	chr15:40671698-40672120	K562	blood:	n/a	n/a
3	TAL1	chr15:40671615-40672169	K562	blood:	n/a	n/a
4	PBX3	chr15:40671921-40672436	SK-N-SH	brain:	n/a	n/a
5	MAX	chr15:40671943-40672460	SK-N-SH	brain:	n/a	n/a
6	USF1	chr15:40671921-40672400	A549	lung:	n/a	chr15:40672200-40672211
7	USF1	chr15:40671947-40672453	ECC-1	luminal epithelium:	n/a	chr15:40672200-40672211
8	USF1	chr15:40671916-40672523	HCT-116	colon:	n/a	chr15:40672200-40672211
9	NR2F2	chr15:40671515-40672266	K562	blood:	n/a	n/a
10	EP300	chr15:40671664-40672315	K562	blood:	n/a	n/a
11	FOSL2	chr15:40671895-40672508	SK-N-SH	brain:	n/a	chr15:40671960-40671969
12	NR2F2	chr15:40671618-40672124	K562	blood:	n/a	n/a
13	CEBPB	chr15:40671956-40672439	IMR90	lung:	n/a	n/a
14	TEAD4	chr15:40671595-40672002	K562	blood:	n/a	n/a
15	USF1	chr15:40671943-40672315	K562	blood:	n/a	chr15:40672200-40672211
16	USF1	chr15:40671880-40672464	SK-N-SH	brain:	n/a	chr15:40672200-40672211
17	TCF12	chr15:40671836-40672593	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr15:40671955-40672398	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40649433..40650953-chr15:40671717..40674000,2	K562	blood:
2	chr15:40671643..40673805-chr15:40689651..40692222,2	K562	blood:
3	chr15:40670502..40673143-chr15:40690722..40692887,2	K562	blood:

Variant related genes	Relation type
KNSTRN	TF binding region
ENSG00000140323	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11541642	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11557072	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11858714	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12905240	1.00[JPT][hapmap]
rs16970709	1.00[JPT][hapmap]
rs16970758	1.00[JPT][hapmap]
rs17671194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17671250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17672041	0.92[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17733008	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053973	1.00[JPT][hapmap]
rs34088794	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3803358	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55788133	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55944373	1.00[AFR][1000 genomes]
rs55982218	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56044352	1.00[AFR][1000 genomes]
rs56190115	1.00[AFR][1000 genomes]
rs56334337	1.00[AFR][1000 genomes]
rs679882	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7164132	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172000	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8026523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8027487	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8033303	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8033938	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8037207	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8040755	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[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	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:29)

SNP	Gene	Cis/trans	Tissue	Source
rs7166991	C15orf23	cis	cerebellum	SCAN
rs7166991	KNSTRN	cis	Skin Sun Exposed Lower leg	GTEx
rs7166991	KNSTRN	cis	Adipose Subcutaneous	GTEx
rs7166991	C15orf23	cis	multi-tissue	Pritchard
rs7166991	C15orf23	cis	parietal	SCAN
rs7166991	IVD	cis	cerebellum	SCAN
rs7166991	IVD	cis	Thyroid	GTEx
rs7166991	KNSTRN	cis	Esophagus Mucosa	GTEx
rs7166991	IVD	cis	Esophagus Mucosa	GTEx
rs7166991	C15orf23	Cis_1M	lymphoblastoid	RTeQTL
rs7166991	KNSTRN	cis	Heart Left Ventricle	GTEx
rs7166991	IVD	Cis_1M	lymphoblastoid	RTeQTL
rs7166991	IVD	cis	parietal	SCAN
rs7166991	KNSTRN	cis	Whole Blood	GTEx
rs7166991	FLJ14502	cis	multi-tissue	Pritchard
rs7166991	KNSTRN	cis	Artery Aorta	GTEx
rs7166991	KNSTRN	cis	Esophagus Muscularis	GTEx
rs7166991	KNSTRN	cis	Muscle Skeletal	GTEx
rs7166991	IVD	cis	multi-tissue	Pritchard
rs7166991	SPTBN5	cis	cerebellum	SCAN
rs7166991	IVD	cis	Esophagus Muscularis	GTEx
rs7166991	KNSTRN	cis	Nerve Tibial	GTEx
rs7166991	LPCAT4	cis	parietal	SCAN
rs7166991	IVD	cis	lymphoblastoid	seeQTL
rs7166991	KNSTRN	cis	lung	GTEx
rs7166991	KNSTRN	cis	Artery Tibial	GTEx
rs7166991	IVD	cis	Artery Aorta	GTEx
rs7166991	STOM	trans	parietal	SCAN
rs7166991	IVD	cis	lung	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40660800-40674800	Weak transcription	Esophagus	oesophagus
2	chr15:40661200-40674800	Weak transcription	Fetal Brain Male	brain
3	chr15:40661600-40674600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:40663200-40674800	Weak transcription	Brain Germinal Matrix	brain
5	chr15:40663800-40674200	Weak transcription	Right Ventricle	heart
6	chr15:40665200-40674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:40665200-40674800	Weak transcription	Fetal Brain Female	brain
8	chr15:40665400-40674800	Weak transcription	Fetal Lung	lung
9	chr15:40668000-40674600	Weak transcription	Thymus	Thymus
10	chr15:40669600-40672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:40670000-40674800	Weak transcription	Aorta	Aorta
12	chr15:40671400-40672000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr15:40671400-40672000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:40671400-40672200	Enhancers	Left Ventricle	heart
15	chr15:40671400-40672400	Enhancers	Spleen	Spleen
16	chr15:40671400-40672600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:40671400-40672600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:40671400-40672600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:40671400-40672800	Enhancers	Placenta	Placenta
20	chr15:40671400-40672800	Enhancers	Stomach Mucosa	stomach
21	chr15:40671400-40673000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:40671400-40673000	Enhancers	Fetal Muscle Leg	muscle
23	chr15:40671400-40673000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:40671400-40673200	Enhancers	HSMMtube	muscle
25	chr15:40671400-40673200	Enhancers	NHDF-Ad	bronchial
26	chr15:40671400-40673400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:40671600-40672200	Enhancers	Liver	Liver
28	chr15:40671600-40672400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:40671600-40672400	Enhancers	HepG2	liver
30	chr15:40671600-40672400	Flanking Active TSS	K562	blood
31	chr15:40671600-40672600	Enhancers	Osteobl	bone
32	chr15:40671600-40672800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:40671600-40672800	Enhancers	NHLF	lung
34	chr15:40671600-40673000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:40671600-40673000	Enhancers	HSMM	muscle
36	chr15:40671600-40673200	Enhancers	NHEK	skin
37	chr15:40671600-40674200	Weak transcription	Lung	lung
38	chr15:40671600-40674800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:40671800-40672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:40671800-40672000	Enhancers	A549	lung
41	chr15:40671800-40672000	Enhancers	Hela-S3	cervix
42	chr15:40671800-40672000	Enhancers	NH-A	brain
43	chr15:40671800-40672400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:40671800-40672600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr15:40671800-40672600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:40671800-40672600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:40671800-40672600	Enhancers	Adipose Nuclei	Adipose
48	chr15:40671800-40672600	Enhancers	HUVEC	blood vessel
49	chr15:40671800-40673200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:40671800-40673200	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links