Variant report

Variant	rs530137715
Chromosome Location	chr7:116619383-116619384
allele	-/AA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116589933..116591821-chr7:116618014..116619931,2	K562	blood:
2	7:116610596-116619447..7:116651084-116657331	H1-hESC	embryonic stem cell:	embryo
3	chr7:116612736..116614667-chr7:116618659..116620509,2	MCF-7	breast:
4	7:115847372-115857098..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
5	7:116610596-116619447..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo
6	7:116610596-116619447..7:116849860-116864942	H1-hESC	embryonic stem cell:	embryo
7	chr7:116617343..116619582-chr7:116622869..116626558,3	K562	blood:
8	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
9	7:116610596-116619447..7:116754962-116765597	GM12878	blood:
10	chr7:116607594..116610667-chr7:116617183..116619569,3	MCF-7	breast:
11	7:116610596-116619447..7:117114628-117119361	H1-hESC	embryonic stem cell:	embryo
12	7:115861595-115870968..7:116610596-116619447	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000198898	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000213050	Chromatin interaction
ENSG00000077063	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1005081	chr7:116618938-116626233	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:116597000-116641600	Weak transcription	Ovary	ovary
4	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
5	chr7:116600600-116620200	Weak transcription	Lung	lung
6	chr7:116607600-116622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:116607600-116632400	Weak transcription	Gastric	stomach
8	chr7:116609000-116627400	Weak transcription	Placenta	Placenta
9	chr7:116610600-116638800	Weak transcription	Hela-S3	cervix
10	chr7:116610800-116626800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:116611000-116619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:116611000-116621400	Weak transcription	Fetal Heart	heart
13	chr7:116612000-116632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:116612200-116623400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:116612200-116628800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:116612800-116623600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:116613000-116623400	Weak transcription	Left Ventricle	heart
18	chr7:116613600-116635600	Weak transcription	Pancreas	Pancrea
19	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
20	chr7:116615200-116621600	Weak transcription	GM12878-XiMat	blood
21	chr7:116617000-116626600	Weak transcription	NHLF	lung
22	chr7:116617200-116619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:116617400-116619400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:116617400-116619600	Enhancers	K562	blood
25	chr7:116617600-116619400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:116617600-116619400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:116617600-116619400	Weak transcription	Osteobl	bone
28	chr7:116617600-116622000	Weak transcription	HMEC	breast
29	chr7:116617600-116626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:116618200-116620000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:116618200-116623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:116618400-116626200	Weak transcription	NHDF-Ad	bronchial
33	chr7:116618800-116619800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:116619000-116620400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:116619200-116619600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr7:116619200-116619800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:116619200-116620200	Enhancers	NHEK	skin

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