Variant report

Variant	rs7340152
Chromosome Location	chr2:189440161-189440162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189439657..189442123-chr2:189444360..189445883,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs58718952	1.00[EUR][1000 genomes]
rs59058494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59329932	1.00[EUR][1000 genomes]
rs60885306	1.00[EUR][1000 genomes]
rs61500341	0.81[AFR][1000 genomes]
rs6705443	1.00[EUR][1000 genomes]
rs73036471	1.00[EUR][1000 genomes]
rs73036479	1.00[EUR][1000 genomes]
rs73036496	1.00[EUR][1000 genomes]
rs73040411	1.00[EUR][1000 genomes]
rs73040428	1.00[EUR][1000 genomes]
rs73040439	1.00[EUR][1000 genomes]
rs73040442	1.00[EUR][1000 genomes]
rs73040450	1.00[EUR][1000 genomes]
rs73040454	1.00[EUR][1000 genomes]
rs7560857	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577467	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7588114	1.00[EUR][1000 genomes]
rs7592433	1.00[EUR][1000 genomes]
rs7592539	1.00[EUR][1000 genomes]
rs7596417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7597930	1.00[EUR][1000 genomes]
rs7598380	1.00[EUR][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:45 , 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	chr2:189426000-189449800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:189426600-189456200	Weak transcription	Gastric	stomach
12	chr2:189426800-189445800	Weak transcription	Fetal Stomach	stomach
13	chr2:189427000-189449000	Weak transcription	Fetal Intestine Small	intestine
14	chr2:189427200-189445600	Weak transcription	Aorta	Aorta
15	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:189433000-189441200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:189433600-189456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:189433600-189459400	Weak transcription	Psoas Muscle	Psoas
19	chr2:189434400-189441200	Weak transcription	Osteobl	bone
20	chr2:189434400-189445800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:189434400-189463200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:189434800-189441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:189435800-189448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:189436400-189463200	Weak transcription	Ovary	ovary
26	chr2:189436600-189449600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:189436600-189449600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:189436800-189446000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:189436800-189448800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:189437000-189440400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:189437000-189443000	Weak transcription	Placenta	Placenta
32	chr2:189437000-189448600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:189437000-189449000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:189437000-189454400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:189438400-189448800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:189438600-189440200	Strong transcription	Fetal Lung	lung
37	chr2:189438600-189440400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:189438600-189440400	Weak transcription	NHDF-Ad	bronchial
39	chr2:189438800-189441200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:189439000-189449800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:189439200-189441600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:189439200-189448800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:189439400-189449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:189439400-189449800	Weak transcription	Pancreas	Pancrea
45	chr2:189440000-189448800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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