Variant report

Variant	rs555538113
Chromosome Location	chr7:112513000-112513001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3477469	chr7:112512817-112520855	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3477470	chr7:112512817-112520855	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv499470	chr7:112512995-112520708	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112533200	Weak transcription	HSMM	muscle
4	chr7:112471800-112545200	Weak transcription	Ovary	ovary
5	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112472200-112513200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:112472200-112517800	Weak transcription	Osteobl	bone
8	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:112494200-112532400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:112495600-112515000	Weak transcription	Pancreas	Pancrea
12	chr7:112496200-112533400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:112498000-112515000	Weak transcription	Gastric	stomach
14	chr7:112499400-112517600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:112499600-112518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:112500600-112521200	Weak transcription	Thymus	Thymus
17	chr7:112501400-112518000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:112502600-112513200	Weak transcription	Primary B cells from cord blood	blood
19	chr7:112505400-112516000	Weak transcription	Primary T cells from cord blood	blood
20	chr7:112506800-112513000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:112506800-112517800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:112506800-112533000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:112507200-112513400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:112507200-112517800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:112507800-112529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:112509000-112516600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:112509200-112521000	Weak transcription	Right Atrium	heart
29	chr7:112509400-112516000	Weak transcription	Left Ventricle	heart
30	chr7:112509400-112517000	Weak transcription	Placenta	Placenta
31	chr7:112509400-112517800	Weak transcription	Spleen	Spleen
32	chr7:112509400-112521000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:112509400-112521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:112509400-112521000	Weak transcription	Esophagus	oesophagus
35	chr7:112509400-112521000	Weak transcription	Fetal Stomach	stomach
36	chr7:112509400-112521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:112509400-112523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:112509400-112532400	Weak transcription	Dnd41	blood
39	chr7:112509800-112514400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:112510200-112521600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:112510400-112514400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:112510600-112514400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:112510600-112525600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:112511400-112524600	Weak transcription	Brain Germinal Matrix	brain
45	chr7:112512200-112517800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:112512400-112518600	Weak transcription	Fetal Lung	lung
47	chr7:112512800-112533400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:112513000-112513200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:112513000-112518800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:112513000-112522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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