Variant report

Variant	rs7691585
Chromosome Location	chr4:56213791-56213792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
4	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
5	chr4:56211857..56214149-chr4:56223596..56225330,2	K562	blood:
6	chr4:56212034..56214727-chr4:56273890..56277792,4	MCF-7	breast:
7	chr4:56212201..56215605-chr4:56218401..56220453,4	MCF-7	breast:
8	chr4:56211245..56214093-chr4:56502603..56505420,3	K562	blood:
9	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
10	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
11	chr4:56213251..56215609-chr4:56227634..56229656,2	MCF-7	breast:
12	chr4:56212775..56214508-chr4:56411805..56414678,2	K562	blood:
13	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
14	chr4:56211857..56214696-chr4:56223596..56227401,3	K562	blood:
15	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:
16	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134851	Chromatin interaction
ENSG00000251111	Chromatin interaction
ENSG00000134852	Chromatin interaction
ENSG00000109255	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000203615	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000272969	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58981335	0.86[AFR][1000 genomes]
rs59186730	0.86[AFR][1000 genomes]
rs73149706	0.86[AFR][1000 genomes]
rs73149708	0.86[AFR][1000 genomes]
rs73149712	0.86[AFR][1000 genomes]
rs73149715	0.86[AFR][1000 genomes]
rs73149726	0.85[AFR][1000 genomes]
rs73149734	0.85[AFR][1000 genomes]
rs7656431	0.83[AFR][1000 genomes]
rs7694736	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56211400-56213800	Active TSS	Brain Anterior Caudate	brain
2	chr4:56211800-56213800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:56212000-56214000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:56212800-56214400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:56213000-56213800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:56213000-56213800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:56213000-56213800	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr4:56213000-56213800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr4:56213000-56214200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:56213000-56214200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:56213000-56214400	Flanking Active TSS	K562	blood
12	chr4:56213000-56215000	Flanking Active TSS	Dnd41	blood
13	chr4:56213200-56213800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:56213200-56213800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:56213200-56213800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:56213200-56213800	Enhancers	Brain Germinal Matrix	brain
17	chr4:56213200-56214000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr4:56213200-56214000	Flanking Active TSS	Hela-S3	cervix
19	chr4:56213200-56214200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:56213200-56214200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:56213200-56214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:56213200-56214600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:56213200-56219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
25	chr4:56213400-56213800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:56213400-56213800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:56213400-56213800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:56213400-56213800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:56213400-56213800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:56213400-56213800	Enhancers	Fetal Muscle Trunk	muscle
31	chr4:56213400-56213800	Enhancers	Left Ventricle	heart
32	chr4:56213400-56213800	Enhancers	Pancreas	Pancrea
33	chr4:56213400-56213800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:56213400-56213800	Enhancers	Right Atrium	heart
35	chr4:56213400-56213800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:56213400-56213800	Enhancers	Stomach Smooth Muscle	stomach
37	chr4:56213400-56214000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:56213400-56214000	Enhancers	Primary B cells from peripheral blood	blood
39	chr4:56213400-56214000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr4:56213400-56214000	Enhancers	Liver	Liver
41	chr4:56213400-56214000	Enhancers	Colonic Mucosa	Colon
42	chr4:56213400-56214000	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:56213400-56214000	Enhancers	Fetal Muscle Leg	muscle
44	chr4:56213400-56214000	Weak transcription	A549	lung
45	chr4:56213400-56214400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:56213400-56214400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:56213400-56214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:56213400-56214600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr4:56213400-56214800	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:56213400-56215000	Enhancers	HUVEC	blood vessel

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