Variant report

Variant	rs4758693
Chromosome Location	chr12:122860714-122860715
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122853062..122855389-chr12:122859440..122862477,3	K562	blood:
2	chr12:122852168..122854562-chr12:122859808..122862389,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10161184	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10161488	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10744218	0.82[EUR][1000 genomes]
rs10773090	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10773108	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10773117	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10773162	0.81[EUR][1000 genomes]
rs10846714	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10846852	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846871	0.84[ASN][1000 genomes]
rs10846912	0.82[EUR][1000 genomes]
rs11057514	0.86[EUR][1000 genomes]
rs11057522	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11057686	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057705	0.84[ASN][1000 genomes]
rs11057813	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11057819	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1129167	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11503023	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11830957	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12308903	0.82[ASN][1000 genomes]
rs12314537	0.82[EUR][1000 genomes]
rs12812332	0.82[EUR][1000 genomes]
rs12818177	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12828876	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12829449	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1392142	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1532579	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553178	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2341438	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825096	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4758664	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758665	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758695	0.98[ASN][1000 genomes]
rs61021925	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6488947	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7305360	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7313121	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7313284	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7953204	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7959550	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7961258	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7964981	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7970007	0.88[EUR][1000 genomes]
rs7972832	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7973480	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7974160	0.89[EUR][1000 genomes]
rs7975492	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7978119	0.88[EUR][1000 genomes]
rs7978636	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs868181	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9788228	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
2	chr12:122839600-122861800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
4	chr12:122840000-122861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:122840000-122862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
7	chr12:122844400-122862000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
10	chr12:122846200-122860800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:122846200-122861600	Weak transcription	Thymus	Thymus
12	chr12:122846200-122862000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:122846600-122861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:122848200-122861400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:122848600-122861400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:122851400-122864200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:122851800-122862000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:122852000-122861800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:122852000-122869800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:122852000-122869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:122852200-122860800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:122852200-122861600	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:122852200-122861800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:122852200-122861800	Weak transcription	Brain Substantia Nigra	brain
25	chr12:122852200-122862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:122852200-122867400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122852200-122869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:122852200-122870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:122852800-122867800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:122853200-122861800	Weak transcription	HMEC	breast
31	chr12:122853200-122868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:122853400-122862000	Weak transcription	Ovary	ovary
33	chr12:122853600-122860800	Weak transcription	Small Intestine	intestine
34	chr12:122853800-122866600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:122853800-122868600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:122853800-122869000	Strong transcription	Placenta	Placenta
37	chr12:122854000-122860800	Weak transcription	HUVEC	blood vessel
38	chr12:122854000-122861400	Weak transcription	NH-A	brain
39	chr12:122854200-122861800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:122854200-122862000	Weak transcription	Gastric	stomach
41	chr12:122854200-122868000	Strong transcription	Fetal Stomach	stomach
42	chr12:122854200-122868600	Weak transcription	Stomach Mucosa	stomach
43	chr12:122854400-122861800	Weak transcription	NHLF	lung
44	chr12:122854400-122867600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:122854600-122868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:122854800-122867000	Weak transcription	Psoas Muscle	Psoas
47	chr12:122855600-122867800	Strong transcription	Fetal Intestine Small	intestine
48	chr12:122855800-122863400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:122855800-122864400	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:122855800-122865200	Strong transcription	Hela-S3	cervix

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