Variant report

Variant	rs12737509
Chromosome Location	chr1:193376820-193376821
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12737193	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12752198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34513305	0.83[AMR][1000 genomes];0.82[EUR][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	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832159	chr1:193342434-193525072	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv998663	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv535254	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193369600-193378000	Weak transcription	Aorta	Aorta
2	chr1:193370400-193377400	Weak transcription	HSMMtube	muscle
3	chr1:193370600-193377200	Weak transcription	Pancreas	Pancrea
4	chr1:193371800-193377400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:193373000-193377200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:193373800-193381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:193374400-193377000	Weak transcription	Ovary	ovary
8	chr1:193375600-193378000	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:193375800-193377000	Enhancers	Colon Smooth Muscle	Colon
10	chr1:193376200-193379000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:193376400-193377400	Weak transcription	NH-A	brain
12	chr1:193376400-193377800	Weak transcription	A549	lung
13	chr1:193376400-193378000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:193376400-193378000	Weak transcription	HUVEC	blood vessel
15	chr1:193376400-193378000	Weak transcription	NHDF-Ad	bronchial
16	chr1:193376400-193378200	Weak transcription	NHLF	lung
17	chr1:193376400-193380000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:193376600-193377200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:193376600-193377600	Weak transcription	Fetal Lung	lung
20	chr1:193376600-193377800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:193376600-193377800	Weak transcription	Osteobl	bone
22	chr1:193376600-193378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:193376600-193378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:193376600-193378000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:193376600-193378600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:193376600-193379800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:193376600-193380000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:193376600-193380200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:193376600-193380400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:193376600-193380600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:193376600-193380600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:193376600-193380800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:193376600-193381200	Weak transcription	Fetal Kidney	kidney
34	chr1:193376800-193377200	Weak transcription	Fetal Heart	heart
35	chr1:193376800-193377800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:193376800-193380200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:193376800-193380600	Weak transcription	Primary T cells from cord blood	blood
38	chr1:193376800-193380600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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