Variant report

Variant	rs10743188
Chromosome Location	chr12:122098914-122098915
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10840652	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12320939	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1877484	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2309142	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2669163	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2669165	0.81[EUR][1000 genomes]
rs2669166	0.81[EUR][1000 genomes]
rs2669168	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2720021	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2720022	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2720025	0.84[EUR][1000 genomes]
rs2720035	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2942368	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2954116	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825175	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486789	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135617	0.88[EUR][1000 genomes]
rs7297028	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7397295	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7978609	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7978866	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122081800-122101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
3	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:122095400-122102000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:122097000-122101400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:122097000-122102000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:122097200-122101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:122097200-122101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:122097200-122102200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:122097200-122109800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:122097400-122099200	Enhancers	Fetal Thymus	thymus
12	chr12:122097400-122100400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:122097400-122100400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122097400-122101400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:122097400-122101800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:122097400-122101800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:122097400-122101800	Weak transcription	Gastric	stomach
18	chr12:122097400-122101800	Weak transcription	A549	lung
19	chr12:122097400-122102000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:122097400-122102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:122097400-122102000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:122097400-122102000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:122097400-122103200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:122097400-122110000	Weak transcription	Esophagus	oesophagus
25	chr12:122097400-122110000	Weak transcription	Right Atrium	heart
26	chr12:122097600-122099400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr12:122097600-122101400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:122097600-122101600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:122097600-122101800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:122097600-122101800	Weak transcription	Fetal Intestine Small	intestine
31	chr12:122097600-122101800	Weak transcription	Thymus	Thymus
32	chr12:122097600-122102000	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:122097600-122105000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:122097800-122101000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:122097800-122101400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:122097800-122101400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122097800-122101400	Weak transcription	HUVEC	blood vessel
38	chr12:122097800-122101600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:122097800-122101600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:122097800-122102000	Enhancers	Primary T cells from cord blood	blood
41	chr12:122097800-122102000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:122097800-122102000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:122097800-122102000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:122097800-122103000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:122097800-122109400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr12:122098000-122099400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:122098200-122100800	Weak transcription	K562	blood
48	chr12:122098200-122101200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:122098200-122101400	Weak transcription	Dnd41	blood
50	chr12:122098200-122101600	Weak transcription	GM12878-XiMat	blood

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