Variant report

Variant	rs12618509
Chromosome Location	chr2:144699739-144699740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144697977..144700307-chr2:144703407..144706089,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12612842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619798	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621041	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823361	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823373	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823382	1.00[ASN][1000 genomes]
rs1864245	0.85[ASN][1000 genomes]
rs2111671	0.99[ASN][1000 genomes]
rs28679451	0.86[ASN][1000 genomes]
rs35790422	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820756	0.86[ASN][1000 genomes]
rs55634187	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56090763	0.85[ASN][1000 genomes]
rs56120346	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56123489	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136411	0.85[ASN][1000 genomes]
rs56166856	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56396630	0.85[AFR][1000 genomes]
rs58186643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60305932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61202373	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851896	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852907	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852908	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852911	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852913	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852918	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852924	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72852926	0.88[ASN][1000 genomes]
rs72852929	0.88[ASN][1000 genomes]
rs72852930	0.88[ASN][1000 genomes]
rs72852932	0.88[ASN][1000 genomes]
rs72852936	0.88[ASN][1000 genomes]
rs72852938	0.88[ASN][1000 genomes]
rs72852941	0.88[ASN][1000 genomes]
rs72852947	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72852948	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72852967	0.86[ASN][1000 genomes]
rs72852969	0.86[ASN][1000 genomes]
rs72852985	0.86[ASN][1000 genomes]
rs73962140	0.93[AFR][1000 genomes]
rs73962146	0.89[AFR][1000 genomes]
rs73962150	0.85[AFR][1000 genomes]
rs73962160	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7572132	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787170	0.89[ASN][1000 genomes]
rs9678811	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv875260	chr2:144675354-144703126	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144695400-144700200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:144695400-144702800	Weak transcription	Lung	lung
3	chr2:144695400-144704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:144695400-144707600	Weak transcription	Pancreas	Pancrea
5	chr2:144695400-144714200	Weak transcription	Gastric	stomach
6	chr2:144695600-144704000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:144695600-144708800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:144696000-144699800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:144696000-144704000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:144696000-144704000	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:144696000-144713200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:144696200-144709800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:144696600-144706400	Weak transcription	HSMM	muscle
14	chr2:144696600-144712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:144696600-144717800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:144696800-144699800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:144697800-144702800	Weak transcription	Primary T cells from cord blood	blood
18	chr2:144697800-144706800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:144698000-144706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:144698000-144709600	Weak transcription	Aorta	Aorta
21	chr2:144698200-144706600	Weak transcription	NHLF	lung
22	chr2:144698400-144702800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:144698400-144702800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:144698400-144702800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:144698400-144702800	Weak transcription	NHDF-Ad	bronchial
26	chr2:144698400-144703200	Weak transcription	Fetal Brain Female	brain
27	chr2:144698400-144704000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:144698400-144704000	Weak transcription	Fetal Intestine Large	intestine
29	chr2:144698400-144704000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:144698400-144704000	Weak transcription	Spleen	Spleen
31	chr2:144698400-144704200	Weak transcription	Adipose Nuclei	Adipose
32	chr2:144698400-144706600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:144698400-144710800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:144698600-144699800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:144698600-144706400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:144698600-144710400	Weak transcription	Ovary	ovary
37	chr2:144698800-144702800	Weak transcription	Fetal Stomach	stomach
38	chr2:144698800-144707800	Weak transcription	Fetal Kidney	kidney
39	chr2:144699000-144699800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:144699000-144702200	Weak transcription	Fetal Brain Male	brain
41	chr2:144699000-144702600	Weak transcription	Fetal Lung	lung
42	chr2:144699000-144708200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:144699600-144730400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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