Variant report

Variant	rs10175840
Chromosome Location	chr2:189453115-189453116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10207737	1.00[YRI][hapmap]
rs10209447	1.00[YRI][hapmap]
rs12328188	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13425664	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs696571	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs696572	1.00[AMR][1000 genomes]
rs698569	1.00[AMR][1000 genomes]
rs698572	1.00[AMR][1000 genomes]
rs7595716	1.00[YRI][hapmap]
rs781252	1.00[AMR][1000 genomes]
rs781256	1.00[AMR][1000 genomes]
rs781257	1.00[AMR][1000 genomes]
rs781258	1.00[AMR][1000 genomes]
rs781260	1.00[AMR][1000 genomes]
rs781266	1.00[AMR][1000 genomes]
rs781267	1.00[AMR][1000 genomes]
rs781270	1.00[AMR][1000 genomes]
rs781455	0.84[AFR][1000 genomes];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:47 , 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	chr2:189426600-189456200	Weak transcription	Gastric	stomach
5	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:189433600-189456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:189433600-189459400	Weak transcription	Psoas Muscle	Psoas
8	chr2:189434400-189463200	Weak transcription	Fetal Intestine Large	intestine
9	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:189436400-189463200	Weak transcription	Ovary	ovary
11	chr2:189437000-189454400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:189443800-189464000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:189445800-189460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:189445800-189463400	Weak transcription	NHLF	lung
15	chr2:189446200-189461000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:189448600-189459800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:189448800-189453600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:189450200-189456200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:189450200-189459400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:189450200-189463800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:189450400-189455400	Weak transcription	Pancreas	Pancrea
22	chr2:189450400-189456400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:189450400-189456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:189450400-189462000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:189450400-189463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:189450400-189470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:189450400-189475000	Weak transcription	Aorta	Aorta
28	chr2:189450600-189456800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:189450600-189458400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:189450600-189459400	Weak transcription	Fetal Stomach	stomach
31	chr2:189450600-189459600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:189450600-189461400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:189450600-189463400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:189450600-189463400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:189450600-189463800	Weak transcription	Fetal Lung	lung
36	chr2:189450600-189464000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:189450600-189464000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:189450800-189460800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:189452000-189454000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:189452000-189456200	Strong transcription	Placenta	Placenta
41	chr2:189452400-189453600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:189452600-189453600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:189452800-189453600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:189452800-189454600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:189452800-189463200	Weak transcription	A549	lung
46	chr2:189453000-189453600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:189453000-189453600	Enhancers	Osteobl	bone

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