Variant report

Variant	rs11238389
Chromosome Location	chr7:56079744-56079745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10081373	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10229446	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10435504	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12669623	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13240915	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13241866	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2002651	0.82[ASN][1000 genomes]
rs2230197	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3735665	0.83[ASN][1000 genomes]
rs4275190	0.87[ASN][1000 genomes]
rs4470984	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4535700	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4543497	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4689	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4947533	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4947534	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4948096	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4948097	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4948099	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4948102	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4948104	0.84[ASN][1000 genomes]
rs62457261	0.96[ASN][1000 genomes]
rs6593292	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6593294	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6951810	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6954499	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6955423	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6958480	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6973917	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6975311	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs766333	0.85[ASN][1000 genomes]
rs7776550	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7800001	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7811270	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7811755	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers 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 target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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 target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription 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 target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1017793	chr7:56051267-56098030	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56033200-56081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:56039200-56081600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:56049200-56101600	Weak transcription	Small Intestine	intestine
4	chr7:56050000-56086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:56051400-56086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
7	chr7:56063400-56089600	Weak transcription	NHDF-Ad	bronchial
8	chr7:56063400-56096800	Weak transcription	NH-A	brain
9	chr7:56063600-56079800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:56063600-56101200	Weak transcription	NHLF	lung
12	chr7:56064400-56087200	Weak transcription	Aorta	Aorta
13	chr7:56064400-56087200	Weak transcription	Esophagus	oesophagus
14	chr7:56064400-56101400	Weak transcription	Gastric	stomach
15	chr7:56065000-56081000	Weak transcription	HSMMtube	muscle
16	chr7:56065000-56081600	Weak transcription	Fetal Thymus	thymus
17	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
19	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
20	chr7:56065800-56088400	Weak transcription	Fetal Kidney	kidney
21	chr7:56065800-56095800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:56066200-56086600	Weak transcription	Ovary	ovary
23	chr7:56066600-56087400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:56066800-56086000	Weak transcription	Brain Germinal Matrix	brain
25	chr7:56067000-56080400	Weak transcription	Thymus	Thymus
26	chr7:56067000-56080800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:56067000-56081400	Weak transcription	Osteobl	bone
28	chr7:56067000-56082200	Weak transcription	Lung	lung
29	chr7:56067000-56088600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:56067200-56087000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:56067400-56081000	Weak transcription	HSMM	muscle
33	chr7:56067400-56087200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:56067400-56087600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:56067400-56100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:56067800-56099600	Weak transcription	K562	blood
37	chr7:56068200-56080800	Weak transcription	Placenta	Placenta
38	chr7:56068200-56081000	Weak transcription	Fetal Lung	lung
39	chr7:56068200-56081000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:56068200-56081000	Weak transcription	GM12878-XiMat	blood
41	chr7:56068200-56081200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:56068200-56081200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:56068200-56086200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:56068200-56087400	Weak transcription	Adipose Nuclei	Adipose
45	chr7:56068200-56101200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:56068400-56081000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:56068400-56081000	Weak transcription	Primary T cells from cord blood	blood
48	chr7:56068400-56081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:56068400-56081600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:56068400-56087200	Weak transcription	Fetal Brain Female	brain

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