Variant report

Variant	rs9795123
Chromosome Location	chr11:9794945-9794946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1045634	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10770061	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10840300	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10840301	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10840302	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10840304	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10840307	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11042494	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11042495	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11042496	0.93[EUR][1000 genomes]
rs12786198	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs360148	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs360149	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3829252	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4910500	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4910501	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4910502	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4910503	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4910505	0.95[EUR][1000 genomes]
rs7102804	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7105203	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7113459	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7120754	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7124706	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7925875	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7936721	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9795085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9795121	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9795122	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic 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	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2514794	chr11:9794205-9795692	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv2309802	chr11:9794411-9795082	Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv3515710	chr11:9794445-9794984	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
9	esv3515712	chr11:9794453-9795066	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv3456520	chr11:9794477-9795031	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv3515711	chr11:9794487-9794989	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
12	esv3456531	chr11:9794489-9795012	Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
13	esv3456542	chr11:9794502-9794975	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
14	esv8918	chr11:9794505-9795192	Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
15	esv3515713	chr11:9794523-9794957	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
16	esv3456553	chr11:9794636-9794966	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
17	esv3515714	chr11:9794636-9794966	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
2	chr11:9781400-9795200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:9781400-9800800	Weak transcription	Fetal Brain Female	brain
4	chr11:9781600-9798200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:9781600-9801000	Weak transcription	Primary T cells from cord blood	blood
6	chr11:9781600-9809000	Weak transcription	Fetal Brain Male	brain
7	chr11:9781800-9799200	Weak transcription	Primary B cells from cord blood	blood
8	chr11:9781800-9799200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:9781800-9801200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:9781800-9801600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:9782000-9798000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:9782200-9796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:9782400-9799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:9782600-9797800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:9784000-9797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:9784000-9801200	Weak transcription	Gastric	stomach
17	chr11:9784400-9797000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:9787400-9796200	Weak transcription	Esophagus	oesophagus
19	chr11:9787400-9796200	Weak transcription	Psoas Muscle	Psoas
20	chr11:9787400-9796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:9787400-9799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:9787400-9801000	Weak transcription	Aorta	Aorta
23	chr11:9787600-9796000	Weak transcription	Hela-S3	cervix
24	chr11:9787600-9797600	Weak transcription	Fetal Intestine Large	intestine
25	chr11:9787600-9799200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:9787600-9799200	Weak transcription	Fetal Lung	lung
27	chr11:9787800-9795800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:9787800-9796200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:9787800-9801000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:9787800-9805200	Weak transcription	Colonic Mucosa	Colon
31	chr11:9788000-9796000	Weak transcription	Ovary	ovary
32	chr11:9788000-9796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:9788000-9796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:9788000-9796200	Weak transcription	Right Atrium	heart
35	chr11:9788000-9796600	Weak transcription	Pancreas	Pancrea
36	chr11:9788000-9801000	Weak transcription	Lung	lung
37	chr11:9788200-9795400	Weak transcription	Osteobl	bone
38	chr11:9788200-9796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:9788200-9796200	Weak transcription	Right Ventricle	heart
40	chr11:9788200-9801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:9788400-9795800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:9788600-9796600	Weak transcription	Fetal Heart	heart
43	chr11:9788600-9801600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:9788800-9796000	Weak transcription	NHEK	skin
45	chr11:9788800-9799000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:9789200-9796000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:9789200-9796000	Weak transcription	Left Ventricle	heart
48	chr11:9789200-9796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:9789200-9801000	Weak transcription	Spleen	Spleen
50	chr11:9789400-9798000	Weak transcription	Placenta	Placenta

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