Variant report

Variant	rs1037593
Chromosome Location	chr12:123369129-123369130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123358823..123360429-chr12:123368868..123370415,2	K562	blood:
2	chr12:123349944..123351476-chr12:123367250..123369233,2	K562	blood:
3	chr12:123364125..123366940-chr12:123368799..123371711,4	K562	blood:
4	chr12:123357674..123359965-chr12:123366472..123369443,2	MCF-7	breast:
5	chr12:123356529..123360323-chr12:123367921..123371522,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1026395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744394	0.88[EUR][1000 genomes]
rs10744439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847742	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847775	1.00[JPT][hapmap]
rs10847910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848148	1.00[JPT][hapmap]
rs10848363	1.00[JPT][hapmap]
rs10848365	1.00[JPT][hapmap]
rs11059729	0.87[CEU][hapmap]
rs11060152	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11060211	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11060932	1.00[JPT][hapmap]
rs11060999	1.00[JPT][hapmap]
rs12306711	1.00[JPT][hapmap]
rs12311043	1.00[JPT][hapmap]
rs1260121	1.00[JPT][hapmap]
rs1671684	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1671686	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1671687	1.00[JPT][hapmap]
rs1696327	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1798563	1.00[JPT][hapmap]
rs1975761	1.00[JPT][hapmap]
rs2061099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271048	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2343107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649895	1.00[JPT][hapmap]
rs2649896	1.00[JPT][hapmap]
rs2649903	1.00[JPT][hapmap]
rs2649904	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2656812	1.00[JPT][hapmap]
rs3844369	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4307760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4759351	0.96[EUR][1000 genomes]
rs4759352	0.96[EUR][1000 genomes]
rs4759353	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs651683	1.00[JPT][hapmap]
rs7138257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298176	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306047	0.88[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7958155	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839354	1.00[JPT][hapmap]
rs897384	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs897388	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs937765	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9795629	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123356800-123369200	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr12:123356800-123370000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:123357000-123369800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:123357000-123373000	Weak transcription	Aorta	Aorta
5	chr12:123358800-123371400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:123359000-123369600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:123364000-123371000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:123364200-123370600	Weak transcription	Esophagus	oesophagus
9	chr12:123365000-123370600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:123365200-123371000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:123365200-123373000	Weak transcription	Fetal Stomach	stomach
12	chr12:123365400-123369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:123365400-123373000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:123365800-123371600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:123365800-123371800	Weak transcription	Fetal Lung	lung
16	chr12:123366000-123370800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:123366000-123370800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:123366000-123370800	Weak transcription	Gastric	stomach
19	chr12:123366000-123371800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:123366000-123372000	Weak transcription	Brain Germinal Matrix	brain
21	chr12:123366000-123372800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:123366200-123370600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:123366200-123370600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:123366200-123370800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:123366200-123370800	Weak transcription	Colonic Mucosa	Colon
26	chr12:123366200-123370800	Weak transcription	Right Ventricle	heart
27	chr12:123366200-123371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:123366200-123371800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:123366200-123373000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:123366200-123379800	Weak transcription	Ovary	ovary
31	chr12:123366600-123369600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:123366800-123369600	Enhancers	Duodenum Mucosa	Duodenum
33	chr12:123367000-123370800	Weak transcription	Placenta	Placenta
34	chr12:123367200-123369400	Enhancers	Adipose Nuclei	Adipose
35	chr12:123367200-123372400	Enhancers	HUVEC	blood vessel
36	chr12:123367400-123369400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:123367400-123369400	Enhancers	Small Intestine	intestine
38	chr12:123367400-123369600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:123367800-123369200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr12:123367800-123369400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:123367800-123375800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:123368000-123369200	Enhancers	GM12878-XiMat	blood
43	chr12:123368000-123369400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:123368000-123369800	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:123368000-123370200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:123368000-123370600	Enhancers	Primary B cells from cord blood	blood
47	chr12:123368000-123370600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:123368000-123370800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:123368200-123369200	Enhancers	Brain Anterior Caudate	brain
50	chr12:123368200-123369200	Enhancers	Duodenum Smooth Muscle	Duodenum

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