Variant report

Variant	rs13416064
Chromosome Location	chr2:110271971-110271972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10173153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10184400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10439552	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265638	0.87[AFR][1000 genomes]
rs13399880	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721931	0.86[AFR][1000 genomes]
rs72949177	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3332462	chr2:110268770-110273157	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110257800-110287800	Weak transcription	Gastric	stomach
2	chr2:110267800-110287600	Weak transcription	Right Atrium	heart
3	chr2:110269800-110272400	Enhancers	HMEC	breast
4	chr2:110270000-110272400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:110270200-110272400	Enhancers	Fetal Thymus	thymus
6	chr2:110270600-110273600	Weak transcription	Right Ventricle	heart
7	chr2:110270800-110272200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:110270800-110272200	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:110270800-110272400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:110270800-110273000	Enhancers	Esophagus	oesophagus
11	chr2:110271000-110272000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:110271000-110272000	Enhancers	HSMM	muscle
13	chr2:110271000-110272400	Enhancers	Placenta	Placenta
14	chr2:110271000-110272400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:110271000-110272400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr2:110271000-110272400	Enhancers	NHDF-Ad	bronchial
17	chr2:110271000-110272400	Enhancers	NHLF	lung
18	chr2:110271000-110272600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:110271000-110272800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:110271000-110273400	Enhancers	Colon Smooth Muscle	Colon
21	chr2:110271000-110273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:110271000-110275000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:110271200-110272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:110271200-110272000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:110271200-110272200	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:110271200-110272200	Enhancers	Stomach Mucosa	stomach
27	chr2:110271200-110272400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr2:110271200-110272400	Enhancers	Colonic Mucosa	Colon
29	chr2:110271200-110272400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:110271200-110272400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:110271200-110272600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:110271200-110272800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:110271200-110272800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:110271200-110272800	Enhancers	Fetal Muscle Leg	muscle
35	chr2:110271200-110272800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:110271200-110272800	Enhancers	HSMMtube	muscle
37	chr2:110271200-110273000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:110271200-110273200	Enhancers	Adipose Nuclei	Adipose
39	chr2:110271200-110273200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr2:110271200-110280400	Weak transcription	Fetal Kidney	kidney
41	chr2:110271200-110285400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:110271400-110272200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:110271400-110272400	Enhancers	Fetal Intestine Large	intestine
44	chr2:110271400-110272400	Enhancers	Ovary	ovary
45	chr2:110271400-110272400	Enhancers	NH-A	brain
46	chr2:110271400-110272400	Enhancers	NHEK	skin
47	chr2:110271400-110273000	Enhancers	Fetal Stomach	stomach
48	chr2:110271400-110278800	Weak transcription	Lung	lung
49	chr2:110271600-110272000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:110271600-110272400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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