Variant report

Variant	rs11758277
Chromosome Location	chr6:36094809-36094810
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	MAZ	chr6:36094774-36094943	K562	blood:	n/a	n/a
2	FOS	chr6:36094630-36095786	HUVEC	blood vessel:	n/a	chr6:36095483-36095493 chr6:36095484-36095492 chr6:36095482-36095493
3	SMC3	chr6:36094752-36094879	HepG2	liver:	n/a	n/a
4	JUN	chr6:36094805-36095670	HUVEC	blood vessel:	n/a	chr6:36095483-36095493 chr6:36095484-36095492
5	JUND	chr6:36094726-36095711	K562	blood:	n/a	chr6:36095483-36095493 chr6:36095484-36095492 chr6:36095482-36095493
6	CBX3	chr6:36094596-36096239	K562	blood:	n/a	n/a
7	POLR2A	chr6:36093390-36096743	HepG2	liver:	n/a	n/a
8	BHLHE40	chr6:36094802-36094987	K562	blood:	n/a	n/a
9	ELF1	chr6:36094539-36094991	K562	blood:	n/a	chr6:36094795-36094808 chr6:36094761-36094774
10	FOSL2	chr6:36094634-36095764	SK-N-SH	brain:	n/a	chr6:36095483-36095493 chr6:36095483-36095494 chr6:36095484-36095492
11	MAX	chr6:36094661-36095102	K562	blood:	n/a	n/a
12	SMARCC1	chr6:36094795-36095908	Hela-S3	cervix:	n/a	chr6:36095484-36095493
13	CEBPZ	chr6:36094736-36094874	HepG2	liver:	n/a	n/a
14	JUN	chr6:36094377-36096271	K562	blood:	n/a	chr6:36095483-36095493 chr6:36095484-36095492 chr6:36095852-36095863
15	ZNF143	chr6:36094800-36094882	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr6:36094605-36094911	HUVEC	blood vessel:	n/a	n/a
17	MAZ	chr6:36094241-36096057	IMR90	lung:	n/a	n/a
18	MAX	chr6:36094686-36095079	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36092958..36095297-chr6:36409060..36410982,2	K562	blood:
2	chr6:36093797..36095536-chr6:36409263..36410982,2	K562	blood:
3	chr6:36091757..36095454-chr6:36110489..36112652,3	K562	blood:
4	chr6:36093612..36095187-chr6:36163486..36165045,2	MCF-7	breast:
5	chr6:36083240..36096353-chr6:36161490..36168411,30	MCF-7	breast:
6	chr6:36093292..36096677-chr6:36162699..36165787,6	K562	blood:

Variant related genes	Relation type
MAPK13	TF binding region
ENSG00000112078	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000179165	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6922865	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs763097	0.97[ASN][1000 genomes]
rs851027	0.82[JPT][hapmap]
rs851035	0.82[JPT][hapmap]
rs877596	0.86[EUR][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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11758277	TMEM217	cis	parietal	SCAN
rs11758277	SLC26A8	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36077200-36096600	Weak transcription	Fetal Brain Female	brain
2	chr6:36077400-36096400	Weak transcription	Fetal Brain Male	brain
3	chr6:36084600-36097600	Weak transcription	Fetal Heart	heart
4	chr6:36086600-36098000	Weak transcription	Aorta	Aorta
5	chr6:36088800-36096800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:36089000-36097800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:36089200-36097600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:36089400-36095000	Enhancers	Primary T cells from cord blood	blood
9	chr6:36089400-36095000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:36089400-36095000	Enhancers	Fetal Thymus	thymus
11	chr6:36089400-36095800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:36089400-36096200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:36089400-36097800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:36089600-36095000	Weak transcription	Small Intestine	intestine
15	chr6:36089600-36097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:36091600-36095400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:36091800-36095000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:36091800-36096200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr6:36091800-36096800	Weak transcription	GM12878-XiMat	blood
20	chr6:36091800-36097800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:36091800-36097800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:36091800-36097800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:36091800-36097800	Weak transcription	Right Atrium	heart
24	chr6:36091800-36098000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:36092200-36097600	Weak transcription	Pancreas	Pancrea
26	chr6:36092200-36097600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:36092200-36097800	Weak transcription	Liver	Liver
28	chr6:36092400-36095600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:36092400-36095600	Weak transcription	Esophagus	oesophagus
30	chr6:36092400-36097600	Weak transcription	Colonic Mucosa	Colon
31	chr6:36093000-36095000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:36093200-36095000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:36093400-36096200	Enhancers	Spleen	Spleen
34	chr6:36093400-36097600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:36093600-36096400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr6:36093800-36095000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:36093800-36095400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:36093800-36095800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:36093800-36096800	Enhancers	HUVEC	blood vessel
40	chr6:36093800-36097000	Enhancers	Lung	lung
41	chr6:36093800-36097800	Enhancers	NHDF-Ad	bronchial
42	chr6:36094000-36095400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:36094000-36096400	Enhancers	NHLF	lung
44	chr6:36094000-36096600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:36094000-36096600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr6:36094200-36095000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr6:36094200-36095800	Enhancers	Right Ventricle	heart
48	chr6:36094400-36095200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:36094400-36095200	Enhancers	Primary B cells from peripheral blood	blood
50	chr6:36094400-36095800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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