Variant report

Variant	rs58352699
Chromosome Location	chr7:48148897-48148898
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48145468..48148267-chr7:48148520..48150065,2	K562	blood:
2	chr7:48017785..48019751-chr7:48148894..48151389,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11975785	1.00[EUR][1000 genomes]
rs17132070	1.00[EUR][1000 genomes]
rs1879832	1.00[EUR][1000 genomes]
rs2056472	1.00[EUR][1000 genomes]
rs2230761	1.00[EUR][1000 genomes]
rs2348664	1.00[EUR][1000 genomes]
rs58725335	1.00[EUR][1000 genomes]
rs6947955	1.00[EUR][1000 genomes]
rs6948569	1.00[AMR][1000 genomes]
rs6951116	1.00[EUR][1000 genomes]
rs6962664	1.00[AMR][1000 genomes]
rs73337874	1.00[EUR][1000 genomes]
rs73337876	1.00[EUR][1000 genomes]
rs73694335	0.86[EUR][1000 genomes]
rs73694345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694352	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694361	1.00[AMR][1000 genomes]
rs73697121	1.00[AMR][1000 genomes]

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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48130400-48149800	Weak transcription	Fetal Kidney	kidney
2	chr7:48130400-48150000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:48130800-48149200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:48131000-48149200	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr7:48131200-48149200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr7:48131400-48149000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:48131400-48149400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:48131600-48149000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:48131600-48149600	Weak transcription	Thymus	Thymus
10	chr7:48132200-48149200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:48134200-48149600	Weak transcription	GM12878-XiMat	blood
12	chr7:48135200-48149000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:48135200-48149400	Strong transcription	A549	lung
14	chr7:48137200-48149400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:48137600-48149200	Strong transcription	HMEC	breast
16	chr7:48137600-48150200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:48137800-48149000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:48137800-48149000	Strong transcription	Lung	lung
19	chr7:48137800-48149200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:48137800-48149200	Strong transcription	NHEK	skin
21	chr7:48137800-48149600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:48137800-48152400	Weak transcription	HSMM	muscle
23	chr7:48138000-48149800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:48138400-48149200	Strong transcription	Esophagus	oesophagus
25	chr7:48138400-48149800	Weak transcription	Primary B cells from cord blood	blood
26	chr7:48138600-48149000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:48138800-48149200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:48138800-48149800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:48138800-48156200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:48139400-48149600	Weak transcription	Fetal Heart	heart
31	chr7:48139600-48149000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:48139800-48149400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:48139800-48149400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:48140000-48149400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:48140000-48149400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:48140600-48149400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:48140800-48149000	Strong transcription	Left Ventricle	heart
38	chr7:48140800-48149400	Strong transcription	Primary T cells from cord blood	blood
39	chr7:48141000-48149000	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr7:48141000-48149000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:48141000-48149000	Strong transcription	Fetal Intestine Small	intestine
42	chr7:48141200-48149000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:48141200-48149000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:48141200-48149200	Strong transcription	Adipose Nuclei	Adipose
45	chr7:48141400-48149400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:48141600-48149000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:48141800-48149600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:48142000-48149000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:48142400-48149000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:48142400-48149600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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