Variant report

Variant	rs11039322
Chromosome Location	chr11:47662589-47662590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47662415-47662802	HepG2	liver:	n/a	n/a
2	HEY1	chr11:47662557-47662887	K562	blood:	n/a	n/a
3	MAX	chr11:47662454-47662887	K562	blood:	n/a	n/a
4	HCFC1	chr11:47662559-47665501	Hela-S3	cervix:	n/a	n/a
5	MAX	chr11:47662569-47662875	K562	blood:	n/a	n/a
6	POLR2A	chr11:47662518-47662781	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47660129..47661788-chr11:47662493..47664105,2	MCF-7	breast:
2	chr11:47599184..47601918-chr11:47661794..47664226,4	MCF-7	breast:
3	chr11:47661932..47663606-chr11:47755819..47758646,2	K562	blood:
4	chr11:47660831..47663188-chr11:47962801..47965480,2	K562	blood:
5	chr11:47206285..47208872-chr11:47661768..47663771,2	K562	blood:
6	chr11:47661534..47663358-chr11:47740296..47742508,2	K562	blood:
7	chr11:47599811..47601701-chr11:47661212..47663329,2	K562	blood:
8	chr11:47599811..47601393-chr11:47661829..47664063,2	K562	blood:
9	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:
10	chr11:47662583..47667763-chr11:47735291..47739208,6	MCF-7	breast:
11	chr11:47662579..47666117-chr11:47735408..47738256,8	MCF-7	breast:

No data

Variant related genes	Relation type
MTCH2	TF binding region
ENSG00000165912	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000165923	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000231880	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56096002	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60793725	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7129948	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930612	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv3424537	chr11:47660545-47663980	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
3	chr11:47646800-47662600	Weak transcription	Aorta	Aorta
4	chr11:47648200-47662800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:47648200-47663200	Weak transcription	Gastric	stomach
6	chr11:47648400-47662800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:47649200-47662600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:47653400-47662600	Weak transcription	Psoas Muscle	Psoas
9	chr11:47656000-47662600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:47656200-47662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:47656800-47662800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:47657000-47662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:47657000-47663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:47657000-47663200	Weak transcription	Esophagus	oesophagus
15	chr11:47657200-47662800	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:47657200-47663400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:47658600-47662600	Weak transcription	Colonic Mucosa	Colon
18	chr11:47658800-47663200	Weak transcription	Lung	lung
19	chr11:47659800-47662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:47660400-47662600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:47660600-47662600	Weak transcription	NH-A	brain
22	chr11:47660800-47662600	Weak transcription	NHLF	lung
23	chr11:47660800-47662800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:47661000-47662800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:47661000-47662800	Weak transcription	Primary T cells from cord blood	blood
26	chr11:47661000-47662800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:47661000-47663000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:47661200-47662600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:47661200-47662600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:47661200-47662600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:47661200-47662600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:47661200-47662600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:47661200-47662600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:47661200-47662600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:47661200-47662600	Enhancers	Adipose Nuclei	Adipose
36	chr11:47661200-47662600	Weak transcription	Fetal Kidney	kidney
37	chr11:47661200-47662600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:47661200-47662600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:47661200-47662600	Weak transcription	Thymus	Thymus
40	chr11:47661200-47662600	Weak transcription	A549	lung
41	chr11:47661200-47662600	Weak transcription	HUVEC	blood vessel
42	chr11:47661200-47662600	Weak transcription	NHDF-Ad	bronchial
43	chr11:47661200-47662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:47661200-47662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:47661200-47662800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:47661200-47663000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:47661200-47663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:47661400-47662600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:47661400-47662600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:47661400-47662600	Weak transcription	Fetal Muscle Leg	muscle

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