Variant report

Variant	rs2048138
Chromosome Location	chr2:189448896-189448897
allele	A/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:6)

rs_ID	r²[population]
rs1354909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698555	1.00[AMR][1000 genomes]
rs698559	1.00[AMR][1000 genomes]
rs698568	1.00[AMR][1000 genomes]
rs781259	1.00[AMR][1000 genomes]
rs781268	1.00[AMR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189414600-189453600	Weak transcription	HUVEC	blood vessel
2	chr2:189420200-189454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:189421400-189450000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:189423000-189449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:189424200-189449800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:189426000-189449800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:189426600-189456200	Weak transcription	Gastric	stomach
9	chr2:189427000-189449000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:189433600-189456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:189433600-189459400	Weak transcription	Psoas Muscle	Psoas
13	chr2:189434400-189463200	Weak transcription	Fetal Intestine Large	intestine
14	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:189436400-189463200	Weak transcription	Ovary	ovary
16	chr2:189436600-189449600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:189436600-189449600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:189437000-189449000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:189437000-189454400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:189439000-189449800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:189439400-189449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:189439400-189449800	Weak transcription	Pancreas	Pancrea
23	chr2:189440200-189449600	Weak transcription	Fetal Lung	lung
24	chr2:189440600-189452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:189442600-189449800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:189442600-189452600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:189443800-189464000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:189444000-189449000	Weak transcription	Placenta	Placenta
29	chr2:189445800-189460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:189445800-189463400	Weak transcription	NHLF	lung
31	chr2:189446000-189449800	Weak transcription	Fetal Stomach	stomach
32	chr2:189446200-189461000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:189446400-189450200	Weak transcription	Aorta	Aorta
34	chr2:189447600-189449600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:189448200-189449000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:189448200-189450800	Weak transcription	Esophagus	oesophagus
37	chr2:189448600-189459800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:189448800-189449200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:189448800-189449800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:189448800-189450200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:189448800-189450600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:189448800-189450600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:189448800-189453600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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