Variant report

Variant	rs12113915
Chromosome Location	chr7:79853832-79853833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10232647	1.00[EUR][1000 genomes]
rs10237103	1.00[EUR][1000 genomes]
rs10244782	1.00[EUR][1000 genomes]
rs10252170	1.00[EUR][1000 genomes]
rs10259591	1.00[EUR][1000 genomes]
rs10265195	1.00[EUR][1000 genomes]
rs10265331	1.00[EUR][1000 genomes]
rs10279516	1.00[EUR][1000 genomes]
rs10429156	1.00[EUR][1000 genomes]
rs11981471	1.00[EUR][1000 genomes]
rs12113217	1.00[EUR][1000 genomes]
rs12721454	1.00[EUR][1000 genomes]
rs17153557	1.00[EUR][1000 genomes]
rs17153567	1.00[EUR][1000 genomes]
rs17153826	1.00[EUR][1000 genomes]
rs17153919	1.00[EUR][1000 genomes]
rs304786	1.00[EUR][1000 genomes]
rs56213139	1.00[EUR][1000 genomes]
rs56266009	1.00[EUR][1000 genomes]
rs58015101	1.00[EUR][1000 genomes]
rs58702842	1.00[EUR][1000 genomes]
rs59069170	1.00[EUR][1000 genomes]
rs59148543	1.00[EUR][1000 genomes]
rs60285251	1.00[AMR][1000 genomes]
rs6949382	1.00[EUR][1000 genomes]
rs6956322	1.00[EUR][1000 genomes]
rs6966043	1.00[EUR][1000 genomes]
rs73374551	1.00[EUR][1000 genomes]
rs73374586	1.00[EUR][1000 genomes]
rs73374587	1.00[EUR][1000 genomes]
rs73376504	1.00[EUR][1000 genomes]
rs73376514	1.00[EUR][1000 genomes]
rs73376517	1.00[EUR][1000 genomes]
rs73376520	1.00[EUR][1000 genomes]
rs73376532	1.00[EUR][1000 genomes]
rs73376537	1.00[EUR][1000 genomes]
rs73376566	1.00[EUR][1000 genomes]
rs73378618	1.00[EUR][1000 genomes]
rs73380531	1.00[AMR][1000 genomes]
rs73708332	1.00[EUR][1000 genomes]
rs7776592	1.00[EUR][1000 genomes]
rs7783639	1.00[EUR][1000 genomes]
rs7792549	1.00[EUR][1000 genomes]
rs7793962	1.00[EUR][1000 genomes]
rs7797671	1.00[EUR][1000 genomes]
rs7798923	1.00[EUR][1000 genomes]
rs7801052	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv526091	chr7:79853447-79854751	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:79816400-79854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:79825400-79856600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:79831800-79861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:79832400-79855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:79836000-79859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:79836600-79861000	Weak transcription	HSMMtube	muscle
8	chr7:79841200-79854000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:79843000-79862800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:79846800-79861000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:79847200-79854800	Weak transcription	Fetal Kidney	kidney
12	chr7:79847400-79854400	Weak transcription	NHDF-Ad	bronchial
13	chr7:79848600-79854400	Weak transcription	Osteobl	bone
14	chr7:79848800-79860600	Weak transcription	NHEK	skin
15	chr7:79849000-79854400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:79849200-79854000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:79849200-79859600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:79849400-79854400	Weak transcription	HSMM	muscle
19	chr7:79849400-79859400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:79849400-79860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:79849600-79854800	Weak transcription	Ovary	ovary
22	chr7:79849600-79859600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:79849600-79860600	Weak transcription	HMEC	breast
24	chr7:79850000-79854400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:79850000-79857400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:79850200-79860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:79850200-79861000	Weak transcription	NHLF	lung
28	chr7:79850400-79855800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:79850400-79866200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:79851000-79854200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:79851600-79859800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:79851600-79860800	Weak transcription	A549	lung
33	chr7:79852000-79859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:79852200-79861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:79852400-79854000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:79852400-79854200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:79853000-79855200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:79853200-79855000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:79853200-79855000	Enhancers	Brain Germinal Matrix	brain
40	chr7:79853200-79855000	Enhancers	Brain Substantia Nigra	brain
41	chr7:79853200-79855000	Enhancers	Fetal Muscle Leg	muscle
42	chr7:79853400-79855400	Enhancers	Adipose Nuclei	Adipose
43	chr7:79853600-79854000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:79853600-79854000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:79853600-79854400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:79853600-79854400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:79853600-79854600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:79853600-79855000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:79853600-79855000	Enhancers	Brain Cingulate Gyrus	brain
50	chr7:79853600-79855200	Enhancers	HUES48 Cell Line	embryonic stem cell

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