Variant report

Variant	rs547712759
Chromosome Location	chr7:48145282-48145283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48130200-48146800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:48130200-48148200	Weak transcription	Right Atrium	heart
3	chr7:48130400-48149800	Weak transcription	Fetal Kidney	kidney
4	chr7:48130400-48150000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:48130800-48149200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:48131000-48149200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:48131200-48148800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr7:48131200-48149200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:48131400-48149000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:48131400-48149400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:48131600-48148800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:48131600-48149000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:48131600-48149600	Weak transcription	Thymus	Thymus
14	chr7:48132200-48146400	Weak transcription	Small Intestine	intestine
15	chr7:48132200-48149200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:48134200-48149600	Weak transcription	GM12878-XiMat	blood
17	chr7:48134400-48148000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:48135200-48149000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:48135200-48149400	Strong transcription	A549	lung
20	chr7:48137200-48149400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:48137600-48149200	Strong transcription	HMEC	breast
22	chr7:48137600-48150200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:48137800-48149000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:48137800-48149000	Strong transcription	Lung	lung
25	chr7:48137800-48149200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:48137800-48149200	Strong transcription	NHEK	skin
27	chr7:48137800-48149600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:48137800-48152400	Weak transcription	HSMM	muscle
29	chr7:48138000-48149800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:48138200-48148800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:48138400-48148800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:48138400-48149200	Strong transcription	Esophagus	oesophagus
33	chr7:48138400-48149800	Weak transcription	Primary B cells from cord blood	blood
34	chr7:48138600-48148600	Strong transcription	HUVEC	blood vessel
35	chr7:48138600-48149000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:48138800-48149200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:48138800-48149800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:48138800-48156200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:48139200-48148600	Strong transcription	Placenta	Placenta
40	chr7:48139400-48149600	Weak transcription	Fetal Heart	heart
41	chr7:48139600-48149000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:48139800-48148600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:48139800-48149400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:48139800-48149400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:48140000-48149400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:48140000-48149400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:48140200-48145400	Strong transcription	Hela-S3	cervix
48	chr7:48140600-48149400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:48140800-48148600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr7:48140800-48148800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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