Variant report

Variant	rs73279683
Chromosome Location	chr12:45716962-45716963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45716663..45719500-chr12:45720743..45723305,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11182947	0.89[AFR][1000 genomes]
rs12815577	0.89[AFR][1000 genomes]
rs17095584	0.89[AFR][1000 genomes]
rs57266792	1.00[AMR][1000 genomes]
rs57314223	1.00[AMR][1000 genomes]
rs57732899	1.00[AMR][1000 genomes]
rs59569841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275006	1.00[AMR][1000 genomes]
rs73275009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275012	0.92[AFR][1000 genomes]
rs73275021	1.00[AMR][1000 genomes]
rs73279279	1.00[AMR][1000 genomes]
rs73279288	1.00[AMR][1000 genomes]
rs73279290	1.00[AMR][1000 genomes]
rs73279302	1.00[AMR][1000 genomes]
rs73279680	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281306	1.00[AMR][1000 genomes]
rs73281407	1.00[AMR][1000 genomes]
rs73281412	1.00[AMR][1000 genomes]
rs73281425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281433	0.92[AFR][1000 genomes]
rs73281436	0.97[AFR][1000 genomes]
rs73281450	1.00[AMR][1000 genomes]
rs73281453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293360	1.00[AMR][1000 genomes]
rs73293363	1.00[AMR][1000 genomes]
rs73293366	1.00[AMR][1000 genomes]
rs73293377	1.00[AMR][1000 genomes]
rs73293382	0.89[AFR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
5	chr12:45692400-45721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
8	chr12:45693600-45730600	Weak transcription	NH-A	brain
9	chr12:45693800-45721800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:45696400-45736600	Weak transcription	HepG2	liver
12	chr12:45696800-45721800	Weak transcription	HMEC	breast
13	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
14	chr12:45698800-45726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:45698800-45726000	Weak transcription	Placenta	Placenta
16	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:45699400-45725400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:45700000-45743600	Weak transcription	Gastric	stomach
20	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:45704200-45721600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:45704400-45720000	Weak transcription	HSMMtube	muscle
23	chr12:45704400-45721800	Weak transcription	Liver	Liver
24	chr12:45704800-45725000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:45704800-45725400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:45705200-45720400	Weak transcription	Ovary	ovary
27	chr12:45706600-45732400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:45707200-45725600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:45707200-45740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:45708000-45719800	Weak transcription	HSMM	muscle
31	chr12:45708600-45742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:45708800-45718200	Weak transcription	NHDF-Ad	bronchial
33	chr12:45709200-45718000	Weak transcription	Thymus	Thymus
34	chr12:45709200-45721800	Weak transcription	NHLF	lung
35	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
36	chr12:45709400-45725600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:45709600-45721200	Weak transcription	HUVEC	blood vessel
38	chr12:45709600-45721800	Weak transcription	Right Ventricle	heart
39	chr12:45709800-45718200	Weak transcription	Aorta	Aorta
40	chr12:45709800-45720600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:45709800-45720600	Weak transcription	NHEK	skin
42	chr12:45709800-45721600	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:45709800-45725400	Weak transcription	Primary B cells from cord blood	blood
44	chr12:45709800-45725400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:45709800-45725600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:45709800-45725600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:45709800-45730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:45709800-45741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
50	chr12:45710200-45717400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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