Variant report

Variant	rs62300323
Chromosome Location	chr4:48033104-48033105
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48015687..48018286-chr4:48032689..48034980,2	K562	blood:
2	chr4:48017249..48021049-chr4:48030612..48033189,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163293	Chromatin interaction
ENSG00000198515	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10938519	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17608481	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17654847	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17654859	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55658926	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56001502	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59276467	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60653952	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62301679	0.80[EUR][1000 genomes]
rs62301680	0.80[EUR][1000 genomes]
rs6820083	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6857248	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48019800-48033800	Weak transcription	Pancreas	Pancrea
2	chr4:48019800-48033800	Weak transcription	Hela-S3	cervix
3	chr4:48019800-48034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:48019800-48034200	Weak transcription	HepG2	liver
5	chr4:48019800-48043600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:48019800-48049800	Weak transcription	Esophagus	oesophagus
7	chr4:48020600-48049600	Weak transcription	Colonic Mucosa	Colon
8	chr4:48021600-48034200	Weak transcription	Stomach Mucosa	stomach
9	chr4:48024600-48043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:48025400-48035000	Weak transcription	NHEK	skin
11	chr4:48026800-48045400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:48028000-48033800	Weak transcription	Fetal Lung	lung
13	chr4:48028200-48040800	Weak transcription	Gastric	stomach
14	chr4:48028200-48042600	Weak transcription	Placenta	Placenta
15	chr4:48028400-48037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:48030000-48033800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:48030000-48034000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:48030400-48034000	Enhancers	Fetal Heart	heart
19	chr4:48030400-48034200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:48031000-48034200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:48031200-48033200	Weak transcription	Liver	Liver
22	chr4:48031200-48034400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:48031400-48034200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:48031600-48041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:48032400-48033800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:48032600-48033200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:48032600-48033200	Enhancers	Small Intestine	intestine
28	chr4:48032600-48033400	Genic enhancers	Fetal Intestine Large	intestine
29	chr4:48032800-48033800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:48032800-48034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:48032800-48045000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:48033000-48033800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:48033000-48034000	Genic enhancers	Fetal Intestine Small	intestine
34	chr4:48033000-48034000	Weak transcription	Psoas Muscle	Psoas
35	chr4:48033000-48034200	Weak transcription	GM12878-XiMat	blood
36	chr4:48033000-48034400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:48033000-48034800	Weak transcription	HMEC	breast
38	chr4:48033000-48037600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:48033000-48037600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:48033000-48037800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:48033000-48037800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:48033000-48045000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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