Variant report

Variant	rs7950472
Chromosome Location	chr11:73446752-73446753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12293194	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1525751	0.86[AFR][1000 genomes]
rs1621654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1670574	1.00[AMR][1000 genomes]
rs1723838	0.86[AFR][1000 genomes]
rs1723839	0.86[AFR][1000 genomes]
rs1723842	0.86[AFR][1000 genomes]
rs1723844	0.86[AFR][1000 genomes]
rs1723845	0.83[AFR][1000 genomes]
rs1723849	0.86[AFR][1000 genomes]
rs1792195	0.86[AFR][1000 genomes]
rs1792196	0.86[AFR][1000 genomes]
rs1976913	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444598	0.81[AFR][1000 genomes]
rs2444600	0.89[AFR][1000 genomes]
rs2444602	1.00[AMR][1000 genomes]
rs2511263	0.86[AFR][1000 genomes]
rs2511265	0.86[AFR][1000 genomes]
rs2511273	1.00[AMR][1000 genomes]
rs2511275	1.00[AMR][1000 genomes]
rs4551800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594814	1.00[AMR][1000 genomes]
rs599116	1.00[AMR][1000 genomes]
rs601335	1.00[AMR][1000 genomes]
rs610280	1.00[AMR][1000 genomes]
rs620059	1.00[AMR][1000 genomes]
rs627721	1.00[AMR][1000 genomes]
rs641423	1.00[AMR][1000 genomes]
rs652229	1.00[AMR][1000 genomes]
rs935989	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
4	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:73411000-73447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
7	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
8	chr11:73413600-73447600	Weak transcription	Left Ventricle	heart
9	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
10	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
11	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:73422400-73454000	Weak transcription	Gastric	stomach
13	chr11:73422800-73448000	Weak transcription	Fetal Brain Female	brain
14	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:73430000-73450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:73430000-73451600	Weak transcription	HSMMtube	muscle
17	chr11:73430000-73460800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:73430200-73448000	Weak transcription	Lung	lung
19	chr11:73430600-73456800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:73430600-73460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:73430600-73462800	Weak transcription	HMEC	breast
22	chr11:73430600-73468800	Weak transcription	NHLF	lung
23	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:73431200-73447800	Weak transcription	Adipose Nuclei	Adipose
25	chr11:73432000-73460600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:73432000-73460600	Weak transcription	Placenta	Placenta
27	chr11:73432000-73462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:73432000-73465200	Weak transcription	NHEK	skin
30	chr11:73432600-73453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:73435400-73448200	Weak transcription	Hela-S3	cervix
32	chr11:73436600-73460600	Weak transcription	Small Intestine	intestine
33	chr11:73436800-73458600	Weak transcription	K562	blood
34	chr11:73436800-73458800	Weak transcription	A549	lung
35	chr11:73436800-73461000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:73437000-73451000	Weak transcription	Liver	Liver
37	chr11:73437000-73461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:73441000-73446800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:73441000-73447800	Weak transcription	HepG2	liver
42	chr11:73441000-73458800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:73441200-73447400	Weak transcription	Fetal Intestine Large	intestine
44	chr11:73441200-73447600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:73441200-73447600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:73441200-73447600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:73441200-73448000	Weak transcription	Primary T cells from cord blood	blood
48	chr11:73441200-73448400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:73441200-73449200	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:73441200-73451400	Weak transcription	Fetal Lung	lung

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