Variant report

Variant	rs6492944
Chromosome Location	chr15:40681676-40681677
allele	A/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	POLR2A	chr15:40681504-40682109	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr15:40681276-40681786	HepG2	liver:	n/a	n/a
3	MAFF	chr15:40681549-40681894	HepG2	liver:	n/a	chr15:40681715-40681733
4	POLR2A	chr15:40681618-40681708	K562	blood:	n/a	n/a
5	POLR2A	chr15:40681589-40682247	PFSK-1	brain:	n/a	n/a
6	MAFK	chr15:40681538-40681903	HepG2	liver:	n/a	chr15:40681716-40681731
7	MAFK	chr15:40681652-40681850	Hela-S3	cervix:	n/a	chr15:40681716-40681731
8	MAFK	chr15:40681676-40681787	K562	blood:	n/a	chr15:40681716-40681731
9	MAFK	chr15:40681552-40681895	HepG2	liver:	n/a	chr15:40681716-40681731
10	CEBPB	chr15:40681111-40681754	HepG2	liver:	n/a	chr15:40681260-40681271
11	MAFF	chr15:40681595-40681879	K562	blood:	n/a	chr15:40681715-40681733
12	MAFK	chr15:40681550-40681872	IMR90	lung:	n/a	chr15:40681716-40681731

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40675097..40677864-chr15:40680611..40684131,5	K562	blood:

Variant related genes	Relation type
KNSTRN	TF binding region
ENSG00000128944	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11541641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11541643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12185076	0.94[EUR][1000 genomes]
rs16970653	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs16970660	1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs2229312	0.94[EUR][1000 genomes]
rs28379196	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62018001	0.83[ASN][1000 genomes]
rs68169695	0.94[EUR][1000 genomes]
rs7175153	0.88[YRI][hapmap]
rs7176592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733427	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733428	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733434	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733437	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733442	0.94[EUR][1000 genomes]
rs72733444	0.92[EUR][1000 genomes]
rs72733445	0.90[EUR][1000 genomes]
rs72733449	0.90[EUR][1000 genomes]
rs72733450	0.90[EUR][1000 genomes]
rs72733453	0.90[EUR][1000 genomes]
rs73383135	0.94[EUR][1000 genomes]
rs8031814	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8036457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs875767	1.00[CHB][hapmap];0.94[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6492944	C15orf23	Cis_1M	lymphoblastoid	RTeQTL
rs6492944	IVD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40676000-40689800	Weak transcription	Right Atrium	heart
2	chr15:40676000-40697400	Weak transcription	Small Intestine	intestine
3	chr15:40676200-40681800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:40676200-40685000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:40676200-40685200	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:40676200-40687200	Weak transcription	Colonic Mucosa	Colon
7	chr15:40676200-40690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr15:40676200-40697200	Weak transcription	Stomach Mucosa	stomach
9	chr15:40676400-40687200	Weak transcription	Right Ventricle	heart
10	chr15:40676800-40687200	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr15:40676800-40688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:40676800-40688400	Strong transcription	Fetal Thymus	thymus
13	chr15:40677000-40686800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:40677000-40688600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:40677200-40687400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr15:40677200-40687600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:40677200-40687600	Strong transcription	Fetal Stomach	stomach
18	chr15:40677400-40681800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:40677400-40687000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:40677600-40686600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:40677600-40687000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:40677600-40687600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:40677800-40686400	Strong transcription	Hela-S3	cervix
24	chr15:40677800-40688800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:40678000-40687400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:40678200-40688400	Strong transcription	Fetal Muscle Leg	muscle
27	chr15:40678400-40684000	Strong transcription	GM12878-XiMat	blood
28	chr15:40678400-40687600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:40678600-40684200	Strong transcription	Brain Germinal Matrix	brain
30	chr15:40678600-40684600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:40678600-40686800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:40678600-40687600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:40678600-40687600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:40678600-40688000	Strong transcription	Thymus	Thymus
35	chr15:40678800-40682000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:40678800-40683200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:40678800-40685000	Strong transcription	Fetal Intestine Small	intestine
38	chr15:40678800-40686200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:40678800-40686200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:40678800-40686400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:40678800-40688000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:40679200-40688400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:40679400-40682000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:40679400-40686600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr15:40679400-40697400	Weak transcription	Brain Substantia Nigra	brain
46	chr15:40679600-40681800	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:40679600-40682200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:40679600-40683400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:40679800-40681800	Weak transcription	Aorta	Aorta
50	chr15:40679800-40681800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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