Variant report

Variant	rs6492947
Chromosome Location	chr15:40761549-40761550
allele	C/T
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	MAX	chr15:40761129-40761736	NB4	blood:	n/a	chr15:40761488-40761498
2	CTCF	chr15:40761420-40761570	K562	blood:	n/a	n/a
3	GATA1	chr15:40761243-40762276	PBDE	blood:	n/a	chr15:40762016-40762023
4	MYC	chr15:40761320-40761726	K562	blood:	n/a	chr15:40761488-40761498
5	UBTF	chr15:40761398-40761555	K562	blood:	n/a	n/a
6	CTCF	chr15:40761349-40761579	K562	blood:	n/a	n/a
7	POLR2A	chr15:40760705-40763222	K562	blood:	n/a	n/a
8	POLR2A	chr15:40761478-40764066	PFSK-1	brain:	n/a	n/a
9	MAX	chr15:40761205-40761639	K562	blood:	n/a	chr15:40761488-40761498
10	SPI1	chr15:40760994-40761592	HL-60	blood:	n/a	chr15:40761287-40761300
11	CTCF	chr15:40761500-40761650	GM06990	blood:	n/a	n/a
12	MYC	chr15:40761167-40761645	NB4	blood:	n/a	chr15:40761488-40761498
13	POLR2A	chr15:40761482-40761564	K562	blood:	n/a	n/a
14	MXI1	chr15:40761250-40764780	SK-N-SH	brain:	n/a	chr15:40762694-40762709 chr15:40761744-40761753
15	MAX	chr15:40761351-40761670	K562	blood:	n/a	chr15:40761488-40761498
16	POLR2A	chr15:40760939-40764365	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
2	chr15:40731794..40734704-chr15:40761511..40763222,2	MCF-7	breast:
3	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
4	chr15:40749521..40751919-chr15:40759316..40762355,3	MCF-7	breast:
5	chr15:40761396..40764374-chr15:40800140..40802676,2	K562	blood:
6	chr15:40749483..40752811-chr15:40761476..40764713,3	MCF-7	breast:
7	chr15:40727351..40729122-chr15:40759443..40761752,2	K562	blood:

Variant related genes	Relation type
CHST14	TF binding region
ENSG00000259211	TF binding region
ENSG00000140320	Chromatin interaction
ENSG00000259536	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11070275	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs11070285	0.88[CEU][hapmap]
rs11070286	0.88[CEU][hapmap]
rs11632061	0.87[CEU][hapmap]
rs11632370	0.87[CEU][hapmap]
rs11638742	0.92[CEU][hapmap]
rs11852694	0.88[CEU][hapmap]
rs11854986	0.88[CEU][hapmap]
rs11855334	0.88[CEU][hapmap]
rs11855923	0.88[CEU][hapmap]
rs11856438	0.88[CEU][hapmap]
rs11856802	0.92[CEU][hapmap]
rs11858113	0.88[CEU][hapmap]
rs12594548	0.92[CEU][hapmap]
rs12595610	0.92[CEU][hapmap]
rs12905162	0.88[CEU][hapmap]
rs12914743	0.88[CEU][hapmap]
rs16970851	0.88[CEU][hapmap]
rs1869301	0.92[CEU][hapmap]
rs1869302	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs2034651	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs2412531	0.88[CEU][hapmap]
rs2412532	0.87[CEU][hapmap]
rs2412534	0.91[CEU][hapmap]
rs2412544	0.88[CEU][hapmap]
rs2444302	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs2924388	0.92[CEU][hapmap]
rs2959536	0.92[CEU][hapmap]
rs3092979	0.88[CEU][hapmap]
rs35047458	0.88[CEU][hapmap]
rs3751653	0.88[CEU][hapmap]
rs4923876	0.88[CEU][hapmap]
rs4924472	0.96[CEU][hapmap]
rs4924478	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs4924481	0.88[CEU][hapmap]
rs619711	0.92[CEU][hapmap]
rs654317	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6582	0.88[CEU][hapmap]
rs7494968	0.92[CEU][hapmap]
rs8026605	0.88[CEU][hapmap]
rs8029384	0.88[CEU][hapmap]
rs8041534	0.88[CEU][hapmap]
rs896795	0.88[CEU][hapmap]

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	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

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs6492947	C15orf57	cis	Cerebellum	GTEx
rs6492947	C15orf57	cis	Artery Aorta	GTEx
rs6492947	C15orf57	cis	lung	GTEx
rs6492947	RP11-111A22.1	cis	Artery Tibial	GTEx
rs6492947	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs6492947	C15orf57	cis	parietal	SCAN
rs6492947	C15orf57	cis	Adipose Subcutaneous	GTEx
rs6492947	DISP2	cis	parietal	SCAN
rs6492947	CCDC32	cis	multi-tissue	Pritchard
rs6492947	C15orf57	cis	Esophagus Muscularis	GTEx
rs6492947	ZFYVE19	cis	parietal	SCAN
rs6492947	IVD	cis	cerebellum	SCAN
rs6492947	C15orf57	cis	Nerve Tibial	GTEx
rs6492947	LPCAT4	cis	parietal	SCAN
rs6492947	C15orf57	cis	Esophagus Mucosa	GTEx
rs6492947	C15orf23	cis	cerebellum	SCAN
rs6492947	C15orf57	cis	cerebellum	SCAN
rs6492947	CCDC32	cis	normal skin	skin_eQTL
rs6492947	ZFYVE19	cis	cerebellum	SCAN
rs6492947	C15orf57	cis	lymphoblastoid	seeQTL
rs6492947	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs6492947	RP11-111A22.1	cis	lung	GTEx
rs6492947	C15orf57	cis	Artery Tibial	GTEx
rs6492947	C15orf57	cis	Muscle Skeletal	GTEx
rs6492947	CCDC32	cis	lesional skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40742400-40762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:40747400-40762600	Weak transcription	HUVEC	blood vessel
3	chr15:40749200-40762600	Weak transcription	Psoas Muscle	Psoas
4	chr15:40749200-40762800	Weak transcription	Small Intestine	intestine
5	chr15:40749400-40762200	Weak transcription	Fetal Heart	heart
6	chr15:40749400-40762400	Weak transcription	Right Atrium	heart
7	chr15:40749800-40762200	Weak transcription	Fetal Brain Male	brain
8	chr15:40750400-40761600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:40750400-40762400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:40750800-40761600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:40755000-40762200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:40757400-40762400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:40757800-40762400	Weak transcription	Hela-S3	cervix
14	chr15:40758000-40761800	Weak transcription	Osteobl	bone
15	chr15:40758000-40762000	Weak transcription	NHDF-Ad	bronchial
16	chr15:40758000-40762200	Weak transcription	Fetal Kidney	kidney
17	chr15:40758000-40762200	Weak transcription	Fetal Lung	lung
18	chr15:40758200-40762200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:40758200-40762200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:40758200-40762200	Weak transcription	Primary B cells from cord blood	blood
21	chr15:40758200-40762200	Weak transcription	HepG2	liver
22	chr15:40758200-40762400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:40758200-40762400	Weak transcription	A549	lung
24	chr15:40758200-40762400	Weak transcription	NHLF	lung
25	chr15:40758400-40762200	Weak transcription	NH-A	brain
26	chr15:40758400-40762400	Weak transcription	Brain Angular Gyrus	brain
27	chr15:40758400-40762400	Weak transcription	Brain Substantia Nigra	brain
28	chr15:40758600-40762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:40758800-40762400	Weak transcription	Colonic Mucosa	Colon
30	chr15:40759000-40762200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr15:40759000-40762200	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:40759000-40762600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:40759200-40762200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:40759200-40762200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:40759200-40762200	Weak transcription	Stomach Mucosa	stomach
36	chr15:40759200-40762200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr15:40759200-40762600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:40759400-40762000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:40759400-40762200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:40759400-40762200	Weak transcription	Liver	Liver
41	chr15:40759400-40762200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:40759400-40762400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:40759400-40762400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:40759400-40762400	Weak transcription	Left Ventricle	heart
45	chr15:40759400-40762600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:40759400-40763400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:40759600-40762000	Weak transcription	Adipose Nuclei	Adipose
48	chr15:40759600-40762200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr15:40759600-40762200	Weak transcription	Dnd41	blood
50	chr15:40759600-40762400	Weak transcription	H9 Cell Line	embryonic stem cell

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