Variant report

Variant	rs12245888
Chromosome Location	chr10:26995048-26995049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10829053	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11015223	0.81[EUR][1000 genomes]
rs11015236	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015237	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015238	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015244	0.88[EUR][1000 genomes]
rs11015245	0.83[ASN][1000 genomes]
rs11015250	0.92[EUR][1000 genomes]
rs12252759	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1677728	0.89[ASN][1000 genomes]
rs1677730	0.91[ASN][1000 genomes]
rs1748353	0.91[ASN][1000 genomes]
rs1748354	0.91[ASN][1000 genomes]
rs1748355	0.91[ASN][1000 genomes]
rs1748356	0.91[ASN][1000 genomes]
rs1748357	0.91[ASN][1000 genomes]
rs1780179	0.91[ASN][1000 genomes]
rs1780181	0.91[ASN][1000 genomes]
rs1780182	0.91[ASN][1000 genomes]
rs1780184	0.87[ASN][1000 genomes]
rs1780192	0.91[ASN][1000 genomes]
rs2448107	0.89[ASN][1000 genomes]
rs2477295	0.80[ASN][1000 genomes]
rs2477297	0.91[ASN][1000 genomes]
rs2477298	0.84[ASN][1000 genomes]
rs2489581	0.91[ASN][1000 genomes]
rs3118155	0.91[ASN][1000 genomes]
rs56290865	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6482571	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7090448	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7100835	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797950	0.90[AMR][1000 genomes];0.97[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	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv1798973	chr10:26968171-27001814	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550233	chr10:26968171-27011323	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26987600-26996200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:26987600-26996200	Weak transcription	Pancreas	Pancrea
3	chr10:26987600-26996800	Weak transcription	Aorta	Aorta
4	chr10:26987600-27010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
6	chr10:26987800-26995400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:26987800-27010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
10	chr10:26988000-26995200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:26988000-26995400	Weak transcription	Placenta	Placenta
12	chr10:26988000-26995800	Weak transcription	Brain Angular Gyrus	brain
13	chr10:26988000-26996200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:26988000-26996400	Weak transcription	HSMM	muscle
15	chr10:26988000-26996400	Weak transcription	Osteobl	bone
16	chr10:26988000-26996600	Weak transcription	HUVEC	blood vessel
17	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:26988200-26995200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:26988200-26995200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:26988200-26995200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr10:26988200-26996000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr10:26988200-27004600	Weak transcription	NH-A	brain
23	chr10:26988200-27009600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr10:26988200-27009800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr10:26988400-26996200	Weak transcription	Fetal Heart	heart
26	chr10:26988400-26996600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr10:26988400-27009800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:26988800-26996000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:26988800-26997000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:26989400-27031000	Weak transcription	Small Intestine	intestine
31	chr10:26990200-26997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:26990400-27002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr10:26990800-26995200	Weak transcription	Colonic Mucosa	Colon
34	chr10:26990800-26998800	Strong transcription	Dnd41	blood
35	chr10:26991000-26996800	Strong transcription	Fetal Thymus	thymus
36	chr10:26991000-26997000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:26991600-26998200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:26991600-26998800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:26992000-26995200	Weak transcription	Primary B cells from cord blood	blood
40	chr10:26992000-26998800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:26993000-26997800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:26993000-26998800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:26993000-26999000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr10:26993400-26998800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr10:26993600-26998600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:26993600-26998800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr10:26993800-26998000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:26993800-26998400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr10:26993800-26998600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr10:26993800-26998800	Strong transcription	Fetal Intestine Large	intestine

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