Variant report

Variant	rs881647
Chromosome Location	chr6:36350814-36350815
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	EBF1	chr6:36350444-36350951	GM12878	blood:	n/a	chr6:36350829-36350839 chr6:36350635-36350648 chr6:36350636-36350647 chr6:36350462-36350471 chr6:36350649-36350660 chr6:36350637-36350646 chr6:36350830-36350839 chr6:36350637-36350647
2	EBF1	chr6:36350479-36350820	GM12878	blood:	n/a	chr6:36350635-36350648 chr6:36350636-36350647 chr6:36350649-36350660 chr6:36350637-36350646 chr6:36350637-36350647

No.	Distal block	Cell Line	Cell type
1	chr6:36269156..36270741-chr6:36349909..36351780,2	MCF-7	breast:
2	chr6:36350662..36353563-chr6:36353746..36355330,2	K562	blood:
3	chr6:36323097..36324990-chr6:36349232..36352025,2	MCF-7	breast:
4	chr6:36350329..36353263-chr6:36561816..36565037,3	MCF-7	breast:
5	chr6:36350010..36352729-chr6:36563870..36566788,2	MCF-7	breast:
6	chr6:36350275..36352895-chr6:36574833..36577389,2	MCF-7	breast:
7	chr6:36344497..36346225-chr6:36349695..36351527,2	K562	blood:
8	chr6:36350050..36352863-chr6:36645939..36648459,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224666	TF binding region
ENSG00000124762	Chromatin interaction
ENSG00000224666	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1076928	0.87[EUR][1000 genomes]
rs10947604	0.85[ASN][1000 genomes]
rs11757823	0.86[EUR][1000 genomes]
rs13210133	0.86[EUR][1000 genomes]
rs2187810	0.86[EUR][1000 genomes]
rs2234064	0.93[EUR][1000 genomes]
rs2234069	0.83[ASN][1000 genomes]
rs2234071	0.87[EUR][1000 genomes]
rs3798480	0.94[EUR][1000 genomes]
rs4295471	0.81[EUR][1000 genomes]
rs6901513	0.85[ASN][1000 genomes]
rs6905318	0.93[EUR][1000 genomes]
rs6906885	0.81[EUR][1000 genomes]
rs6919571	0.81[EUR][1000 genomes]
rs6931970	0.80[EUR][1000 genomes]
rs7766404	0.87[EUR][1000 genomes]
rs7771459	0.81[EUR][1000 genomes]
rs9296180	0.81[EUR][1000 genomes]
rs9296181	0.81[EUR][1000 genomes]
rs9357212	0.81[EUR][1000 genomes]
rs9368924	0.94[EUR][1000 genomes]
rs9368926	0.86[EUR][1000 genomes]
rs9368928	0.81[EUR][1000 genomes]
rs9368929	0.81[EUR][1000 genomes]
rs9368930	0.81[EUR][1000 genomes]
rs9368931	0.81[EUR][1000 genomes]
rs9380569	0.81[EUR][1000 genomes]
rs9380572	0.80[EUR][1000 genomes]
rs9394349	0.81[EUR][1000 genomes]
rs9470270	0.81[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	nsv428481	chr6:36219000-36365746	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs881647	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36326800-36354000	Weak transcription	Small Intestine	intestine
2	chr6:36327000-36354000	Weak transcription	Right Atrium	heart
3	chr6:36328400-36351200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:36328400-36353400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:36328800-36353600	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:36333200-36353800	Weak transcription	Pancreas	Pancrea
7	chr6:36333800-36353600	Weak transcription	Stomach Mucosa	stomach
8	chr6:36334600-36351000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:36339200-36354200	Weak transcription	Esophagus	oesophagus
10	chr6:36339800-36353600	Weak transcription	Lung	lung
11	chr6:36344200-36354000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:36345000-36351000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:36345400-36351800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:36346800-36351000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:36347200-36351000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:36349000-36351600	Weak transcription	NHEK	skin
17	chr6:36349800-36352000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:36350200-36351200	Enhancers	Aorta	Aorta
19	chr6:36350400-36352000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:36350600-36351000	Enhancers	GM12878-XiMat	blood
21	chr6:36350600-36352200	Strong transcription	Fetal Intestine Small	intestine
22	chr6:36350600-36353600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:36350800-36351000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr6:36350800-36351200	Enhancers	Spleen	Spleen
25	chr6:36350800-36351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:36350800-36351600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:36350800-36351800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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