Variant report

Variant	rs12343971
Chromosome Location	chr9:6873125-6873126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10117958	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10975874	0.87[EUR][1000 genomes]
rs10975891	0.82[EUR][1000 genomes]
rs12235748	0.87[EUR][1000 genomes]
rs12238622	0.87[EUR][1000 genomes]
rs9792438	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752308	chr9:6523060-6899149	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv1028402	chr9:6542253-6874231	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv1015462	chr9:6544766-6874231	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv870402	chr9:6565246-7016784	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv1033539	chr9:6566610-7022554	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
6	nsv466111	chr9:6567841-7017391	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
7	nsv613208	chr9:6567841-7017391	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv1024831	chr9:6573752-7018641	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
9	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	esv2752309	chr9:6670448-6908200	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription 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	70 gene(s)	inside rSNPs	diseases
11	nsv892181	chr9:6680477-7070962	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	70 gene(s)	inside rSNPs	diseases
12	nsv870332	chr9:6694842-6911550	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	nsv1016109	chr9:6712314-6924843	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv613252	chr9:6715730-7022554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv831499	chr9:6723287-6930933	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv1018557	chr9:6723728-6891136	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	nsv1023461	chr9:6774993-7022554	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv524069	chr9:6837912-6880263	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv831500	chr9:6847952-6992535	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv1801159	chr9:6865386-6901008	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv831501	chr9:6868099-7058526	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6824400-6892000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:6835400-6893200	Weak transcription	Colonic Mucosa	Colon
3	chr9:6853000-6874000	Weak transcription	Gastric	stomach
4	chr9:6864000-6880400	Weak transcription	Aorta	Aorta
5	chr9:6864200-6877400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:6864400-6874600	Weak transcription	Spleen	Spleen
7	chr9:6864400-6880200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:6864400-6880400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:6864400-6885400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:6864600-6873400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:6864600-6873800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:6864600-6873800	Weak transcription	HSMMtube	muscle
13	chr9:6864600-6874600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr9:6864600-6874600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr9:6864600-6875200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:6864600-6887200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr9:6864600-6889600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:6865000-6877800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:6865000-6887200	Weak transcription	Fetal Intestine Large	intestine
20	chr9:6865600-6877400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:6867200-6873800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr9:6868400-6880200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr9:6868400-6887000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:6868800-6875200	Weak transcription	Thymus	Thymus
25	chr9:6868800-6880400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr9:6869000-6877800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:6869200-6898000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:6869400-6889400	Weak transcription	Adipose Nuclei	Adipose
29	chr9:6869600-6873800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:6869600-6887000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr9:6869600-6909400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:6869800-6874600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr9:6869800-6874600	Weak transcription	Left Ventricle	heart
34	chr9:6869800-6875800	Weak transcription	Fetal Thymus	thymus
35	chr9:6869800-6876600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:6869800-6876600	Weak transcription	Lung	lung
37	chr9:6869800-6878000	Weak transcription	Right Atrium	heart
38	chr9:6869800-6880400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:6869800-6883000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:6869800-6886800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:6869800-6889400	Weak transcription	Right Ventricle	heart
42	chr9:6869800-6890000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr9:6869800-6908000	Weak transcription	Fetal Stomach	stomach
44	chr9:6870000-6873800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:6870000-6874600	Weak transcription	Primary T cells from cord blood	blood
46	chr9:6870000-6888000	Weak transcription	GM12878-XiMat	blood
47	chr9:6870600-6878000	Strong transcription	Primary B cells from cord blood	blood
48	chr9:6871000-6873400	Weak transcription	Ovary	ovary
49	chr9:6871000-6877800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:6871000-6880400	Weak transcription	Pancreas	Pancrea

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