Variant report

Variant	rs10174393
Chromosome Location	chr2:127452430-127452431
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1050967	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12617050	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1530149	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1964424	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1968539	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2165227	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280238	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280239	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280240	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791345	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56224235	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6431172	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6709803	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6713909	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6732145	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71393823	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs935022	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs935024	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs938733	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv965826	chr2:127445780-127453618	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv875010	chr2:127447829-127452764	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3528056	chr2:127448510-127455016	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3528057	chr2:127448510-127455016	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3357673	chr2:127448720-127452655	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3423852	chr2:127448933-127452547	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv583014	chr2:127450911-127455669	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
6	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
7	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
8	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:127442000-127456800	Weak transcription	Osteobl	bone
10	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
12	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr2:127446000-127454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:127446400-127453400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
22	chr2:127447400-127455800	Strong transcription	Ovary	ovary
23	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:127447600-127456000	Strong transcription	Fetal Lung	lung
26	chr2:127447600-127456200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:127447600-127456200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:127447600-127456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:127447600-127456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:127447600-127456800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:127448200-127456400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:127448400-127456200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:127448600-127455200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:127449000-127452600	Weak transcription	Gastric	stomach
35	chr2:127449000-127455800	Strong transcription	K562	blood
36	chr2:127449600-127456000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:127449800-127456600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:127450000-127453600	Weak transcription	Psoas Muscle	Psoas
39	chr2:127450000-127454200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr2:127450400-127453400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:127450400-127456000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:127450400-127456200	Strong transcription	Aorta	Aorta
43	chr2:127450400-127456400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:127450600-127454400	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:127450600-127456600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:127450800-127453400	Strong transcription	Spleen	Spleen
47	chr2:127450800-127455600	Strong transcription	Primary B cells from cord blood	blood
48	chr2:127450800-127456000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:127450800-127456600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:127450800-127458200	Weak transcription	Small Intestine	intestine

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