Variant report

Variant	rs7657206
Chromosome Location	chr4:56398159-56398160
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	chr4:56393770..56396745-chr4:56397077..56399857,3	K562	blood:
2	chr4:56394810..56399339-chr4:56410958..56414096,4	K562	blood:

Variant related genes	Relation type
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1047343	1.00[AMR][1000 genomes]
rs10517345	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11727248	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1552522	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085783	1.00[AMR][1000 genomes]
rs17085803	1.00[AMR][1000 genomes]
rs17085857	1.00[AMR][1000 genomes]
rs17085864	1.00[AMR][1000 genomes]
rs17085882	1.00[AMR][1000 genomes]
rs17085885	1.00[AMR][1000 genomes]
rs2412650	1.00[AMR][1000 genomes]
rs2899036	0.93[YRI][hapmap]
rs34028624	1.00[AMR][1000 genomes]
rs34822003	1.00[AMR][1000 genomes]
rs58578647	1.00[AMR][1000 genomes]
rs73151822	1.00[AMR][1000 genomes]
rs73151893	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153621	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153661	1.00[AMR][1000 genomes]
rs73153688	1.00[AMR][1000 genomes]
rs73816271	1.00[AMR][1000 genomes]
rs73816274	1.00[AMR][1000 genomes]
rs7659053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7661096	1.00[AMR][1000 genomes]
rs7662129	1.00[AMR][1000 genomes]
rs7663749	1.00[AMR][1000 genomes]
rs7680836	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7686016	1.00[AMR][1000 genomes]
rs7696080	1.00[AMR][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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56361600-56411800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56372600-56405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:56385000-56403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:56386000-56398600	Weak transcription	Fetal Stomach	stomach
5	chr4:56387800-56398800	Weak transcription	Left Ventricle	heart
6	chr4:56391600-56398400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:56391600-56400600	Weak transcription	HSMM	muscle
8	chr4:56391600-56403400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:56391600-56405600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:56391600-56405600	Weak transcription	Osteobl	bone
11	chr4:56391600-56405800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:56391600-56408800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:56391600-56409400	Weak transcription	NHDF-Ad	bronchial
14	chr4:56391800-56399800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:56391800-56409400	Weak transcription	HMEC	breast
16	chr4:56391800-56409400	Weak transcription	NHEK	skin
17	chr4:56391800-56409600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:56393200-56408000	Weak transcription	K562	blood
19	chr4:56394800-56403400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:56396200-56406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:56396800-56398400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:56396800-56411600	Weak transcription	Psoas Muscle	Psoas
23	chr4:56397000-56398600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:56397000-56400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:56397000-56403400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:56397000-56404000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:56397200-56404000	Weak transcription	Dnd41	blood
28	chr4:56397600-56398800	Weak transcription	Fetal Lung	lung
29	chr4:56398000-56398400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:56398000-56398800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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