Variant report

Variant	rs16999591
Chromosome Location	chr4:84773803-84773804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:84767839..84770555-chr4:84773187..84775234,2	MCF-7	breast:
2	chr4:84769957..84771677-chr4:84773440..84775148,2	K562	blood:
3	chr4:84772338..84775245-chr4:84775376..84777045,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11935762	1.00[EUR][1000 genomes]
rs11936694	1.00[EUR][1000 genomes]
rs11936831	1.00[EUR][1000 genomes]
rs12108329	1.00[EUR][1000 genomes]
rs1505785	1.00[EUR][1000 genomes]
rs1505787	1.00[EUR][1000 genomes]
rs1587946	1.00[EUR][1000 genomes]
rs17007410	1.00[EUR][1000 genomes]
rs17007475	1.00[EUR][1000 genomes]
rs17007479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17007495	1.00[EUR][1000 genomes]
rs17007528	1.00[EUR][1000 genomes]
rs17007674	1.00[EUR][1000 genomes]
rs17007731	1.00[EUR][1000 genomes]
rs17007745	1.00[EUR][1000 genomes]
rs17007746	1.00[EUR][1000 genomes]
rs1847824	1.00[EUR][1000 genomes]
rs59145586	1.00[EUR][1000 genomes]
rs6812215	1.00[EUR][1000 genomes]
rs6813078	1.00[EUR][1000 genomes]
rs6814040	1.00[EUR][1000 genomes]
rs6818187	1.00[EUR][1000 genomes]
rs6835964	1.00[EUR][1000 genomes]
rs6843921	1.00[EUR][1000 genomes]
rs6857832	1.00[EUR][1000 genomes]
rs72943165	1.00[EUR][1000 genomes]
rs72943172	1.00[EUR][1000 genomes]
rs72943664	1.00[EUR][1000 genomes]
rs72943666	1.00[EUR][1000 genomes]
rs7672164	1.00[EUR][1000 genomes]
rs7677081	1.00[EUR][1000 genomes]
rs9307832	1.00[EUR][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	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1010009	chr4:84469896-84882528	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv879513	chr4:84612373-84905452	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84771400-84774600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr4:84771600-84774000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:84771600-84774600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:84771600-84774600	Enhancers	HSMMtube	muscle
5	chr4:84771800-84774200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:84771800-84774400	Enhancers	NHLF	lung
7	chr4:84771800-84774600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:84771800-84774800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:84771800-84775000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:84771800-84775000	Enhancers	HSMM	muscle
11	chr4:84772000-84775000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:84772000-84776000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:84772000-84777600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:84772200-84774200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:84772200-84774200	Enhancers	HMEC	breast
16	chr4:84772400-84774400	Enhancers	NHDF-Ad	bronchial
17	chr4:84772600-84774200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:84773000-84774000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:84773000-84774600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:84773000-84774800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:84773200-84774600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:84773200-84774600	Enhancers	Osteobl	bone
23	chr4:84773200-84775000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:84773200-84778000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:84773400-84774600	Enhancers	NHEK	skin
26	chr4:84773400-84775000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:84773400-84775200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:84773400-84775200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:84773400-84775400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:84773400-84775400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:84773400-84776000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:84773400-84776000	Weak transcription	Hela-S3	cervix
33	chr4:84773400-84779800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:84773600-84774800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:84773800-84774400	Enhancers	A549	lung
36	chr4:84773800-84774600	Enhancers	NH-A	brain
37	chr4:84773800-84774800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:84773800-84775800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:84773800-84776000	Weak transcription	HepG2	liver
40	chr4:84773800-84778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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