Variant report

Variant	rs7569960
Chromosome Location	chr2:189435746-189435747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10153871	0.83[AMR][1000 genomes]
rs10199260	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10211141	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13386581	0.87[AMR][1000 genomes]
rs13412448	0.87[AMR][1000 genomes]
rs13413752	0.80[AMR][1000 genomes]
rs1354902	0.92[ASN][1000 genomes]
rs1507551	0.80[AMR][1000 genomes]
rs4423571	1.00[ASN][1000 genomes]
rs4667229	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57943055	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58633000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102741	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7573579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:189414600-189453600	Weak transcription	HUVEC	blood vessel
3	chr2:189417000-189445600	Weak transcription	NHLF	lung
4	chr2:189420200-189454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:189421400-189450000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:189422800-189448800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:189423000-189449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:189424200-189449800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:189424400-189438000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:189426000-189449800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:189426600-189456200	Weak transcription	Gastric	stomach
13	chr2:189426800-189445800	Weak transcription	Fetal Stomach	stomach
14	chr2:189427000-189439000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:189427000-189449000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:189427200-189445600	Weak transcription	Aorta	Aorta
17	chr2:189429000-189436200	Weak transcription	Fetal Kidney	kidney
18	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:189433000-189441200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:189433200-189436800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:189433400-189436600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:189433400-189437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:189433400-189437000	Strong transcription	Fetal Lung	lung
24	chr2:189433600-189436200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:189433600-189436600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:189433600-189436600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:189433600-189437000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:189433600-189437000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:189433600-189438400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:189433600-189439200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:189433600-189456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:189433600-189459400	Weak transcription	Psoas Muscle	Psoas
33	chr2:189433800-189440000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:189434000-189435800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:189434000-189435800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:189434000-189436600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:189434000-189437000	Strong transcription	Placenta	Placenta
38	chr2:189434200-189437600	Weak transcription	Lung	lung
39	chr2:189434400-189436000	Weak transcription	Ovary	ovary
40	chr2:189434400-189441200	Weak transcription	Osteobl	bone
41	chr2:189434400-189445800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:189434400-189463200	Weak transcription	Fetal Intestine Large	intestine
43	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:189434800-189441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:189435400-189437400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:189435400-189438200	Weak transcription	NHDF-Ad	bronchial
47	chr2:189435600-189437000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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