Variant report

Variant	rs7668085
Chromosome Location	chr4:56214871-56214872
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr4:56212201..56215605-chr4:56218401..56220453,4	MCF-7	breast:
5	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
6	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
7	chr4:56213251..56215609-chr4:56227634..56229656,2	MCF-7	breast:
8	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128039	Chromatin interaction
ENSG00000251111	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000249700	Chromatin interaction

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

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

rs_ID	r²[population]
rs10001859	0.81[ASN][1000 genomes]
rs11727256	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730275	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13105055	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985606	1.00[ASN][1000 genomes]
rs2063577	1.00[ASN][1000 genomes]
rs34157065	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813878	1.00[ASN][1000 genomes]
rs6835891	0.94[ASN][1000 genomes]
rs9790808	1.00[ASN][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213000-56215000	Flanking Active TSS	Dnd41	blood
2	chr4:56213200-56219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
4	chr4:56213400-56215000	Enhancers	HUVEC	blood vessel
5	chr4:56213400-56215200	Enhancers	Fetal Lung	lung
6	chr4:56213400-56215200	Enhancers	Stomach Mucosa	stomach
7	chr4:56213400-56215200	Enhancers	NHDF-Ad	bronchial
8	chr4:56213400-56215200	Enhancers	Osteobl	bone
9	chr4:56213400-56215400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:56213400-56217000	Weak transcription	Fetal Stomach	stomach
11	chr4:56213400-56217200	Weak transcription	Lung	lung
12	chr4:56213400-56223800	Weak transcription	Fetal Heart	heart
13	chr4:56213400-56225400	Weak transcription	Spleen	Spleen
14	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
15	chr4:56213600-56215000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:56213600-56215000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:56213600-56215000	Enhancers	Brain Angular Gyrus	brain
18	chr4:56213600-56215000	Enhancers	Brain Substantia Nigra	brain
19	chr4:56213600-56215000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:56213600-56215000	Enhancers	NHEK	skin
21	chr4:56213600-56215200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:56213600-56215200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:56213600-56219200	Weak transcription	Primary T cells from cord blood	blood
24	chr4:56213600-56221600	Weak transcription	HMEC	breast
25	chr4:56213600-56223000	Weak transcription	Esophagus	oesophagus
26	chr4:56213600-56223000	Weak transcription	HSMM	muscle
27	chr4:56213600-56224000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:56213600-56225600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
30	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:56213600-56242600	Weak transcription	Gastric	stomach
33	chr4:56213800-56215000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:56213800-56215000	Enhancers	Brain Anterior Caudate	brain
35	chr4:56213800-56215000	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:56213800-56215000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr4:56213800-56217800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:56213800-56218600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:56213800-56221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:56213800-56223000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:56213800-56225200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:56213800-56225600	Weak transcription	Left Ventricle	heart
43	chr4:56213800-56227000	Weak transcription	Placenta	Placenta
44	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:56213800-56233600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
50	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea

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