Variant report

Variant	rs7112739
Chromosome Location	chr11:18391434-18391435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18389829..18393207-chr11:18415267..18417660,3	K562	blood:
2	chr11:18386073..18387800-chr11:18389640..18392386,2	K562	blood:
3	chr11:18390732..18392479-chr11:18415393..18418299,2	MCF-7	breast:
4	chr11:18389913..18393253-chr11:18414767..18417568,3	K562	blood:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4150547	0.88[AFR][1000 genomes]
rs4150557	0.92[AFR][1000 genomes]
rs4150574	0.92[AFR][1000 genomes]
rs4150578	0.92[AFR][1000 genomes]
rs4150601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150623	0.96[AFR][1000 genomes]
rs4150624	0.96[AFR][1000 genomes]
rs4150648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150657	1.00[AFR][1000 genomes]
rs4150676	1.00[AMR][1000 genomes]
rs4150683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110937	1.00[AMR][1000 genomes]
rs7117069	1.00[AMR][1000 genomes]
rs7117801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939858	0.96[AFR][1000 genomes]
rs7948195	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv523373	chr11:18382911-18401531	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18361800-18391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:18363200-18393000	Weak transcription	Fetal Heart	heart
4	chr11:18385000-18392600	Weak transcription	Small Intestine	intestine
5	chr11:18387600-18391600	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:18387600-18393200	Weak transcription	Gastric	stomach
7	chr11:18387600-18394000	Weak transcription	Fetal Stomach	stomach
8	chr11:18387600-18395400	Weak transcription	Lung	lung
9	chr11:18387600-18398600	Weak transcription	Ovary	ovary
10	chr11:18387600-18404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:18387600-18404400	Weak transcription	Esophagus	oesophagus
12	chr11:18387600-18404800	Weak transcription	Pancreas	Pancrea
13	chr11:18387800-18404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:18388000-18405000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:18388200-18391600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:18388200-18392600	Weak transcription	Stomach Mucosa	stomach
17	chr11:18388200-18392600	Weak transcription	K562	blood
18	chr11:18388200-18393400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:18388200-18395000	Weak transcription	NHLF	lung
20	chr11:18388400-18402600	Weak transcription	Hela-S3	cervix
21	chr11:18388600-18392800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:18388600-18394400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:18388800-18392000	Weak transcription	Fetal Kidney	kidney
24	chr11:18388800-18393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:18388800-18404400	Weak transcription	Brain Anterior Caudate	brain
26	chr11:18389000-18392000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:18389000-18393000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:18389000-18393400	Weak transcription	Brain Germinal Matrix	brain
29	chr11:18389200-18391600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:18389200-18391600	Weak transcription	HUVEC	blood vessel
31	chr11:18389200-18392400	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:18389200-18392600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:18389200-18392600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:18389200-18392600	Weak transcription	Left Ventricle	heart
35	chr11:18389200-18392800	Weak transcription	HepG2	liver
36	chr11:18389200-18393000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:18389200-18394400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:18389200-18404600	Weak transcription	Thymus	Thymus
39	chr11:18389400-18391600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:18389400-18392400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:18389400-18392400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:18389400-18394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:18389400-18394800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:18389800-18391600	Strong transcription	A549	lung
45	chr11:18389800-18392400	Weak transcription	Liver	Liver
46	chr11:18389800-18392600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:18389800-18393000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:18390000-18392000	Weak transcription	Fetal Intestine Small	intestine
49	chr11:18390000-18392400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:18390000-18392600	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links