Variant report

Variant	rs11947889
Chromosome Location	chr4:56835104-56835105
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56834554..56837989-chr4:56839883..56842257,4	K562	blood:
2	chr4:56814215..56818385-chr4:56831752..56835834,4	K562	blood:

Variant related genes	Relation type
ENSG00000174799	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56091138	1.00[EUR][1000 genomes]
rs56767025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59495365	0.84[AFR][1000 genomes]
rs60921598	1.00[AFR][1000 genomes]
rs6814122	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6849675	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817248	1.00[EUR][1000 genomes]
rs73817249	1.00[EUR][1000 genomes]
rs73817250	1.00[EUR][1000 genomes]
rs73817260	1.00[EUR][1000 genomes]
rs73817261	1.00[EUR][1000 genomes]
rs73817262	1.00[EUR][1000 genomes]
rs73817263	1.00[EUR][1000 genomes]
rs73817265	1.00[EUR][1000 genomes]
rs73817266	1.00[EUR][1000 genomes]
rs73817267	1.00[EUR][1000 genomes]
rs73817268	1.00[EUR][1000 genomes]
rs73817304	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73817309	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817313	0.84[AFR][1000 genomes]
rs73820223	1.00[AFR][1000 genomes]
rs7665405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56815800-56839200	Weak transcription	Esophagus	oesophagus
2	chr4:56815800-56875000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:56816200-56839400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:56816200-56846600	Weak transcription	Right Ventricle	heart
5	chr4:56816200-56873400	Weak transcription	Pancreas	Pancrea
6	chr4:56816200-56884200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:56816200-56887800	Weak transcription	Gastric	stomach
8	chr4:56816400-56866000	Weak transcription	Spleen	Spleen
9	chr4:56816400-56890800	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:56816600-56851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:56816600-56852000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:56816600-56865800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:56816600-56890600	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
15	chr4:56816800-56865800	Weak transcription	Small Intestine	intestine
16	chr4:56816800-56869800	Weak transcription	HepG2	liver
17	chr4:56817400-56839200	Weak transcription	NHEK	skin
18	chr4:56817400-56885400	Weak transcription	NHDF-Ad	bronchial
19	chr4:56817800-56846200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:56817800-56854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:56818200-56837200	Strong transcription	Fetal Thymus	thymus
22	chr4:56818200-56853800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:56818800-56841800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:56819000-56835400	Strong transcription	Dnd41	blood
25	chr4:56819000-56897400	Weak transcription	HSMMtube	muscle
26	chr4:56819200-56859600	Weak transcription	Fetal Kidney	kidney
27	chr4:56819200-56890600	Weak transcription	NHLF	lung
28	chr4:56820000-56841600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:56820600-56892400	Weak transcription	Hela-S3	cervix
30	chr4:56822200-56849800	Weak transcription	Fetal Brain Male	brain
31	chr4:56822200-56873600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:56822400-56845000	Weak transcription	K562	blood
33	chr4:56822400-56865800	Weak transcription	Psoas Muscle	Psoas
34	chr4:56823600-56893800	Weak transcription	HMEC	breast
35	chr4:56824000-56846600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:56824600-56838400	Weak transcription	Fetal Brain Female	brain
37	chr4:56824600-56839600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:56824600-56846800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:56824600-56846800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:56825200-56838000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:56825200-56838000	Weak transcription	Thymus	Thymus
42	chr4:56825200-56838400	Weak transcription	Brain Germinal Matrix	brain
43	chr4:56825200-56839200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:56825200-56851600	Weak transcription	Lung	lung
45	chr4:56825200-56865800	Weak transcription	Aorta	Aorta
46	chr4:56825400-56838200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:56825400-56845800	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:56825600-56870000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:56826000-56838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:56826200-56837800	Weak transcription	Muscle Satellite Cultured Cells	--

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