Variant report

Variant	rs1820475
Chromosome Location	chr4:95391998-95391999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95391486..95396177-chr4:95398178..95402962,4	K562	blood:
2	chr4:95371844..95375246-chr4:95391299..95394379,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction
ENSG00000203436	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17378777	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2011525	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433320	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433322	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433323	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2433326	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2438146	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2438147	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2438148	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452553	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2510762	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510763	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510764	0.80[EUR][1000 genomes]
rs2510765	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28697067	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34570027	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6812165	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7697295	0.80[EUR][1000 genomes]
rs774982	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9990678	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
4	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
5	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:95376600-95392000	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:95380200-95393400	Weak transcription	HSMMtube	muscle
9	chr4:95380600-95394600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:95381200-95393400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:95381600-95393000	Weak transcription	NH-A	brain
12	chr4:95383000-95395800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:95383000-95396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:95383000-95396000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:95384200-95393600	Weak transcription	Hela-S3	cervix
16	chr4:95387400-95392000	Weak transcription	Fetal Intestine Small	intestine
17	chr4:95387400-95393200	Weak transcription	Small Intestine	intestine
18	chr4:95387400-95410000	Weak transcription	NHLF	lung
19	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:95388000-95392800	Weak transcription	NHDF-Ad	bronchial
21	chr4:95388800-95392400	Enhancers	Psoas Muscle	Psoas
22	chr4:95389600-95393400	Weak transcription	Stomach Mucosa	stomach
23	chr4:95389600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:95389800-95393600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:95389800-95393600	Weak transcription	Aorta	Aorta
26	chr4:95390000-95392000	Weak transcription	HSMM	muscle
27	chr4:95390000-95392200	Weak transcription	NHEK	skin
28	chr4:95390200-95393400	Weak transcription	HMEC	breast
29	chr4:95390200-95393600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:95390400-95392400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:95390600-95392200	Weak transcription	Osteobl	bone
32	chr4:95390600-95393400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:95390600-95393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:95390600-95393400	Weak transcription	Adipose Nuclei	Adipose
35	chr4:95390800-95392000	Weak transcription	K562	blood
36	chr4:95390800-95392200	Weak transcription	Fetal Heart	heart
37	chr4:95390800-95392800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:95390800-95392800	Weak transcription	HepG2	liver
39	chr4:95390800-95393200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:95390800-95393200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:95390800-95393200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:95390800-95393400	Weak transcription	Right Ventricle	heart
43	chr4:95390800-95393400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:95390800-95393600	Weak transcription	Brain Anterior Caudate	brain
45	chr4:95390800-95393600	Weak transcription	Right Atrium	heart
46	chr4:95390800-95393600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:95390800-95395800	Weak transcription	Ovary	ovary
48	chr4:95390800-95397000	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:95390800-95397800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:95390800-95398200	Weak transcription	Gastric	stomach

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