Variant report

Variant	rs4694880
Chromosome Location	chr4:48033582-48033583
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	chr4:48015687..48018286-chr4:48032689..48034980,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10002500	0.81[JPT][hapmap];0.86[YRI][hapmap]
rs10517204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10938520	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11733288	0.90[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12645245	0.90[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13107767	0.87[JPT][hapmap]
rs1371729	0.81[YRI][hapmap]
rs1396051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1466997	0.89[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap]
rs178650	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2661513	0.87[YRI][hapmap]
rs28578328	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3113881	0.87[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs321621	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs321623	0.89[CEU][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs321633	0.89[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805187	0.83[JPT][hapmap]
rs3950558	0.89[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4695326	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4695332	0.88[JPT][hapmap]
rs6850603	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7685636	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9995122	0.81[YRI][hapmap]
rs9996535	0.83[JPT][hapmap]

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	chr4:48028000-48033800	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	chr4:48031200-48034400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:48031400-48034200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:48031600-48041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:48032400-48033800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:48032800-48033800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:48032800-48034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:48032800-48045000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:48033000-48033800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:48033000-48034000	Genic enhancers	Fetal Intestine Small	intestine
30	chr4:48033000-48034000	Weak transcription	Psoas Muscle	Psoas
31	chr4:48033000-48034200	Weak transcription	GM12878-XiMat	blood
32	chr4:48033000-48034400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:48033000-48034800	Weak transcription	HMEC	breast
34	chr4:48033000-48037600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:48033000-48037600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:48033000-48037800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:48033000-48037800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:48033000-48045000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:48033200-48033600	Weak transcription	Small Intestine	intestine
40	chr4:48033200-48036000	Enhancers	Liver	Liver
41	chr4:48033400-48036400	Enhancers	Fetal Intestine Large	intestine

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