Variant report

Variant	rs73244472
Chromosome Location	chr4:48031636-48031637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48017249..48021049-chr4:48030612..48033189,3	MCF-7	breast:
2	chr4:48021540..48023440-chr4:48027193..48032829,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198515	Chromatin interaction
ENSG00000163293	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4695329	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4695330	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73244473	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73244475	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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:41 , 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	chr4:48027200-48032800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:48028000-48033800	Weak transcription	Fetal Lung	lung
14	chr4:48028200-48032000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:48028200-48040800	Weak transcription	Gastric	stomach
16	chr4:48028200-48042600	Weak transcription	Placenta	Placenta
17	chr4:48028400-48037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:48029000-48032000	Weak transcription	Fetal Intestine Small	intestine
19	chr4:48029400-48033000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:48030000-48033800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:48030000-48034000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:48030200-48033000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:48030200-48033000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:48030400-48032600	Weak transcription	Psoas Muscle	Psoas
25	chr4:48030400-48033000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:48030400-48034000	Enhancers	Fetal Heart	heart
27	chr4:48030400-48034200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:48030800-48032600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:48031000-48031800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:48031000-48032600	Weak transcription	HMEC	breast
31	chr4:48031000-48034200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:48031200-48032400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:48031200-48033200	Weak transcription	Liver	Liver
34	chr4:48031200-48034400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:48031400-48033000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:48031400-48033000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:48031400-48034200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:48031600-48032600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:48031600-48032800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:48031600-48033000	Enhancers	GM12878-XiMat	blood
41	chr4:48031600-48041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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