Variant report

Variant	rs12538288
Chromosome Location	chr7:27982312-27982313
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10951187	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11763181	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1557779	0.85[CEU][hapmap]
rs1859109	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs191	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs197	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs200	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs201	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs205	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs207	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs208	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2097737	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs211	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs213	0.85[CEU][hapmap]
rs214	1.00[AFR][1000 genomes]
rs215	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4722746	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6462060	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6951040	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6955462	0.82[CEU][hapmap]
rs6958293	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6968362	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs6968677	1.00[CEU][hapmap]
rs6969949	0.85[CEU][hapmap]
rs6970113	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6972944	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73083394	0.81[EUR][1000 genomes]
rs7778340	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7783410	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7787507	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs916854	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
2	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27961000-27983400	Weak transcription	NH-A	brain
5	chr7:27973600-27982600	Weak transcription	Spleen	Spleen
6	chr7:27973800-27986200	Weak transcription	HSMM	muscle
7	chr7:27974000-27990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:27975600-27984800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:27976200-27987400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:27976600-27991600	Weak transcription	Osteobl	bone
11	chr7:27977000-27983600	Weak transcription	Psoas Muscle	Psoas
12	chr7:27977000-27983600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:27977000-28001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:27977200-27986400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:27977400-27991600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:27978600-27993000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:27979000-27984800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:27979200-27982400	Weak transcription	Right Atrium	heart
19	chr7:27979200-27985600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr7:27979200-28000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:27979600-27983000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:27980000-27984600	Strong transcription	Primary B cells from cord blood	blood
23	chr7:27980000-27986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:27980200-27984800	Weak transcription	Right Ventricle	heart
25	chr7:27980200-27987400	Weak transcription	Gastric	stomach
26	chr7:27980200-28000000	Weak transcription	Lung	lung
27	chr7:27980400-27982400	Weak transcription	Left Ventricle	heart
28	chr7:27980400-27983200	Weak transcription	Fetal Heart	heart
29	chr7:27980400-27986000	Weak transcription	Fetal Stomach	stomach
30	chr7:27980400-27987600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:27980400-27988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:27980400-28000000	Weak transcription	Pancreas	Pancrea
33	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
34	chr7:27980600-27993400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:27980800-27984200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:27981000-27984400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:27981000-27984600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:27981000-27984600	Enhancers	Adipose Nuclei	Adipose
39	chr7:27981000-27984600	Enhancers	NHDF-Ad	bronchial
40	chr7:27981200-27985200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:27981200-27985800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:27981200-27986200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:27981600-27984200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr7:27981600-27986000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:27981800-27983400	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:27981800-27985400	Enhancers	Fetal Muscle Leg	muscle
47	chr7:27981800-27986000	Weak transcription	Brain Angular Gyrus	brain
48	chr7:27981800-27986000	Weak transcription	Brain Substantia Nigra	brain
49	chr7:27981800-27986200	Weak transcription	Brain Anterior Caudate	brain
50	chr7:27982000-27982400	Weak transcription	Brain Cingulate Gyrus	brain

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