Variant report

Variant	rs55961633
Chromosome Location	chr8:131341956-131341957
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131338752..131343749-chr8:131347668..131351929,6	K562	blood:
2	chr8:131340635..131342968-chr8:131350699..131352695,2	MCF-7	breast:
3	chr8:131340148..131342762-chr8:131349307..131352128,2	K562	blood:
4	chr8:131340477..131342836-chr8:131369281..131371407,2	K562	blood:
5	chr8:131340477..131343144-chr8:131369207..131371407,2	K562	blood:
6	chr8:131340112..131342181-chr8:131360380..131363177,2	K562	blood:
7	chr8:131336690..131338851-chr8:131341065..131343497,2	K562	blood:
8	chr8:131341482..131343785-chr8:131354519..131356819,2	K562	blood:
9	chr8:131335044..131338190-chr8:131340619..131343497,3	K562	blood:
10	chr8:131340170..131343751-chr8:131358170..131360964,3	MCF-7	breast:
11	chr8:131327964..131329913-chr8:131340492..131342664,2	K562	blood:

No data

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16904265	0.91[EUR][1000 genomes]
rs16904266	0.91[EUR][1000 genomes]
rs55637017	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55642195	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55686856	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs55692599	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55705977	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55758693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55759431	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55867508	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55871312	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55891945	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55968438	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55979731	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56194038	0.85[AMR][1000 genomes]
rs56241132	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56285703	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56297697	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56308942	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56313701	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56323699	0.91[EUR][1000 genomes]
rs56336751	0.91[EUR][1000 genomes]
rs56349599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385215	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56405390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993944	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994242	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994477	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6998031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004723	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005271	0.95[EUR][1000 genomes]
rs7462977	0.91[EUR][1000 genomes]
rs7815532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7821742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836688	1.00[AMR][1000 genomes];1.00[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:131315600-131353400	Weak transcription	Dnd41	blood
3	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
8	chr8:131331000-131342400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:131332600-131342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:131332600-131344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:131333200-131344200	Enhancers	NHDF-Ad	bronchial
12	chr8:131333400-131343000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:131335200-131347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:131335400-131344200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:131335600-131342200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:131335600-131343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
19	chr8:131336200-131347800	Weak transcription	Liver	Liver
20	chr8:131336400-131342000	Weak transcription	Brain Germinal Matrix	brain
21	chr8:131336600-131346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:131336800-131344200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
24	chr8:131337200-131342400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:131337200-131343400	Weak transcription	Gastric	stomach
26	chr8:131337200-131346800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:131337400-131342600	Weak transcription	Small Intestine	intestine
29	chr8:131337400-131346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:131337400-131346200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:131337400-131350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:131337600-131342000	Weak transcription	Brain Angular Gyrus	brain
33	chr8:131337800-131342600	Weak transcription	Thymus	Thymus
34	chr8:131338000-131343600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:131338400-131343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:131338400-131350200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
38	chr8:131338600-131342600	Weak transcription	Colonic Mucosa	Colon
39	chr8:131338600-131347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:131338800-131342000	Weak transcription	Fetal Lung	lung
41	chr8:131338800-131343600	Weak transcription	Primary T cells from cord blood	blood
42	chr8:131338800-131343800	Enhancers	K562	blood
43	chr8:131339000-131342200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:131339200-131342000	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:131339200-131342000	Weak transcription	HMEC	breast
46	chr8:131339200-131342600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:131339200-131342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:131339200-131346200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:131339400-131342600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:131339600-131343400	Weak transcription	H9 Cell Line	embryonic stem cell

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