Variant report

Variant	rs12112479
Chromosome Location	chr7:137598407-137598408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10232374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10272404	1.00[EUR][1000 genomes]
rs10279567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56180308	1.00[EUR][1000 genomes]
rs56206871	1.00[EUR][1000 genomes]
rs56249419	1.00[EUR][1000 genomes]
rs56364819	1.00[EUR][1000 genomes]
rs58021602	0.92[EUR][1000 genomes]
rs58643157	1.00[EUR][1000 genomes]
rs58766863	0.92[EUR][1000 genomes]
rs58888708	1.00[EUR][1000 genomes]
rs59690824	0.85[EUR][1000 genomes]
rs60066950	1.00[EUR][1000 genomes]
rs60325918	1.00[EUR][1000 genomes]
rs61652269	1.00[EUR][1000 genomes]
rs73729092	1.00[EUR][1000 genomes]
rs73729518	1.00[EUR][1000 genomes]
rs73729519	1.00[EUR][1000 genomes]
rs73729520	1.00[EUR][1000 genomes]
rs73729521	0.85[EUR][1000 genomes]
rs73729522	1.00[EUR][1000 genomes]
rs73729523	1.00[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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137584200-137601000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
3	chr7:137584400-137601600	Strong transcription	Fetal Intestine Large	intestine
4	chr7:137584600-137604800	Weak transcription	Right Atrium	heart
5	chr7:137585000-137604800	Weak transcription	Psoas Muscle	Psoas
6	chr7:137585000-137605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:137585200-137601000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:137585200-137606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:137586200-137599200	Weak transcription	HMEC	breast
10	chr7:137587600-137600200	Strong transcription	Left Ventricle	heart
11	chr7:137588800-137599800	Weak transcription	NHEK	skin
12	chr7:137588800-137600800	Strong transcription	Adipose Nuclei	Adipose
13	chr7:137588800-137600800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr7:137588800-137601400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:137588800-137601600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:137588800-137603400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:137588800-137603400	Strong transcription	Fetal Intestine Small	intestine
18	chr7:137588800-137606200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
20	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:137588800-137620200	Weak transcription	Dnd41	blood
22	chr7:137589000-137600800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr7:137589000-137601000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:137589000-137601600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:137589000-137601600	Strong transcription	Liver	Liver
26	chr7:137589000-137602800	Strong transcription	HepG2	liver
27	chr7:137589000-137606200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr7:137589400-137600800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:137589400-137600800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:137589400-137600800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr7:137589400-137603600	Strong transcription	NHLF	lung
32	chr7:137589400-137603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:137589600-137600000	Strong transcription	Lung	lung
34	chr7:137589600-137600200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr7:137589600-137601400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:137589600-137601600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:137589600-137613600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:137589800-137601000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:137589800-137601000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:137589800-137601800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr7:137590000-137603000	Strong transcription	Fetal Stomach	stomach
42	chr7:137590000-137603400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:137590200-137600000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:137590200-137600400	Strong transcription	GM12878-XiMat	blood
45	chr7:137590200-137600800	Strong transcription	Primary T cells from cord blood	blood
46	chr7:137590200-137600800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:137590200-137600800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:137590200-137601000	Strong transcription	Fetal Lung	lung
49	chr7:137590200-137601000	Strong transcription	HSMM	muscle
50	chr7:137590400-137600200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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