Variant report

Variant	rs6419117
Chromosome Location	chr4:87858908-87858909
allele	A/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: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	chr4:87858860..87860584-chr4:87909283..87910972,2	K562	blood:
2	chr4:87857968..87859669-chr4:87867267..87869680,2	MCF-7	breast:
3	chr4:87858518..87860018-chr4:87894461..87896898,2	K562	blood:
4	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
5	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
6	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
7	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:
8	chr4:87858278..87859821-chr4:87918030..87920940,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12506662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1447993	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012186	0.82[ASN][1000 genomes]
rs1868246	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2442078	0.85[EUR][1000 genomes]
rs2705621	0.91[EUR][1000 genomes]
rs6836128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72613148	0.91[EUR][1000 genomes]
rs72613149	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7671931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9996533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87854800-87859200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr4:87855000-87859000	Active TSS	Colonic Mucosa	Colon
3	chr4:87855000-87859000	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr4:87855000-87859800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:87855200-87859000	Active TSS	Fetal Intestine Large	intestine
6	chr4:87855200-87859200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:87855200-87859200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr4:87855200-87859800	Active TSS	GM12878-XiMat	blood
9	chr4:87855200-87859800	Active TSS	Hela-S3	cervix
10	chr4:87855400-87859000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:87855400-87859200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:87855400-87859800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr4:87855400-87859800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:87856600-87861600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:87856800-87861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:87857000-87859000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr4:87857200-87859000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr4:87857400-87859400	Active TSS	Thymus	Thymus
19	chr4:87857400-87860800	Weak transcription	Aorta	Aorta
20	chr4:87857400-87860800	Active TSS	Placenta	Placenta
21	chr4:87857400-87861600	Flanking Active TSS	Dnd41	blood
22	chr4:87857600-87860200	Weak transcription	HSMMtube	muscle
23	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
24	chr4:87857800-87859200	Weak transcription	Lung	lung
25	chr4:87857800-87859400	Weak transcription	Pancreas	Pancrea
26	chr4:87857800-87860800	Weak transcription	Esophagus	oesophagus
27	chr4:87857800-87860800	Weak transcription	Gastric	stomach
28	chr4:87857800-87861000	Weak transcription	Left Ventricle	heart
29	chr4:87857800-87861400	Weak transcription	Brain Angular Gyrus	brain
30	chr4:87857800-87867800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:87857800-87880200	Weak transcription	HSMM	muscle
32	chr4:87858000-87859600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:87858000-87859800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:87858000-87860000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:87858000-87860200	Weak transcription	Osteobl	bone
36	chr4:87858000-87860800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:87858000-87861000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:87858000-87861000	Weak transcription	NH-A	brain
39	chr4:87858000-87867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:87858200-87859200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:87858200-87859800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:87858200-87859800	Weak transcription	Brain Anterior Caudate	brain
43	chr4:87858200-87860200	Weak transcription	NHDF-Ad	bronchial
44	chr4:87858200-87860600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:87858200-87860600	Weak transcription	Fetal Heart	heart
46	chr4:87858200-87860800	Weak transcription	Brain Substantia Nigra	brain
47	chr4:87858200-87861000	Enhancers	Primary B cells from peripheral blood	blood
48	chr4:87858200-87861600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr4:87858200-87861600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr4:87858200-87862000	Enhancers	Primary monocytes fromperipheralblood	blood

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