Variant report

Variant	rs12082350
Chromosome Location	chr1:113114022-113114023
allele	C/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:23)

rs_ID	r²[population]
rs10399919	0.83[AFR][1000 genomes]
rs11102490	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102492	1.00[AMR][1000 genomes]
rs11102500	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060267	0.92[AFR][1000 genomes]
rs12069022	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069740	0.92[AFR][1000 genomes]
rs12073750	0.86[AFR][1000 genomes]
rs12077330	0.83[AFR][1000 genomes]
rs12080006	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087862	0.83[AFR][1000 genomes]
rs12091635	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030446	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030455	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030592	0.83[AFR][1000 genomes]
rs58634778	0.83[AFR][1000 genomes]
rs59324334	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984503	0.83[AFR][1000 genomes]
rs72993070	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993072	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113058800-113119400	Weak transcription	HepG2	liver
2	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
3	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
4	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:113065200-113114800	Weak transcription	Small Intestine	intestine
6	chr1:113065400-113114600	Weak transcription	Fetal Brain Male	brain
7	chr1:113066000-113114600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:113066200-113114400	Weak transcription	Dnd41	blood
10	chr1:113067000-113117400	Weak transcription	Fetal Thymus	thymus
11	chr1:113070400-113120600	Weak transcription	Right Ventricle	heart
12	chr1:113070600-113117800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:113070600-113120200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:113070600-113132400	Weak transcription	Aorta	Aorta
15	chr1:113072000-113114400	Weak transcription	Brain Anterior Caudate	brain
16	chr1:113076400-113115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:113080200-113117800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:113080800-113117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:113081200-113132200	Weak transcription	Primary B cells from cord blood	blood
20	chr1:113081400-113132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:113081800-113132200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:113082000-113116000	Weak transcription	Left Ventricle	heart
23	chr1:113082000-113117400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:113082200-113118000	Weak transcription	Lung	lung
25	chr1:113083200-113123200	Weak transcription	Right Atrium	heart
26	chr1:113083600-113114400	Weak transcription	Fetal Brain Female	brain
27	chr1:113083600-113117400	Weak transcription	Brain Angular Gyrus	brain
28	chr1:113084000-113114600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:113084000-113131400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:113084200-113114800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:113084200-113117400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:113084200-113117400	Weak transcription	Brain Germinal Matrix	brain
33	chr1:113084200-113118000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:113084600-113114400	Weak transcription	Primary T cells from cord blood	blood
35	chr1:113084600-113114600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:113084600-113120600	Weak transcription	Ovary	ovary
37	chr1:113084800-113137000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:113085200-113114600	Weak transcription	Placenta	Placenta
39	chr1:113087600-113114400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:113087600-113125800	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:113088400-113132200	Weak transcription	HMEC	breast
42	chr1:113088800-113114600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:113088800-113117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:113088800-113118000	Weak transcription	NHEK	skin
45	chr1:113089200-113114400	Weak transcription	NH-A	brain
46	chr1:113089600-113117800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:113089800-113120400	Weak transcription	Stomach Mucosa	stomach
48	chr1:113091200-113117400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:113091400-113114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:113092000-113118000	Weak transcription	Rectal Mucosa Donor 29	rectum

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