Variant report

Variant	rs56405390
Chromosome Location	chr8:131346539-131346540
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131338191..131341349-chr8:131343744..131346974,4	K562	blood:
2	chr8:131344499..131346879-chr8:131349308..131351195,2	K562	blood:
3	chr8:131345122..131348664-chr8:131349728..131353324,3	K562	blood:
4	chr8:131330257..131333007-chr8:131345961..131348000,2	K562	blood:
5	chr8:131346527..131349689-chr8:131353512..131358068,4	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

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]
rs55961633	1.00[AFR][1000 genomes];1.00[AMR][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]
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	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
4	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:131335200-131347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
7	chr8:131336200-131347800	Weak transcription	Liver	Liver
8	chr8:131336600-131346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
10	chr8:131337200-131346800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:131337400-131350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:131338400-131350200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
15	chr8:131338600-131347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:131339600-131351000	Weak transcription	Lung	lung
17	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
19	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:131341000-131346600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:131341000-131350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:131341200-131349000	Enhancers	Fetal Heart	heart
23	chr8:131342600-131346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:131342800-131346800	Weak transcription	Primary B cells from cord blood	blood
26	chr8:131342800-131347000	Weak transcription	Fetal Kidney	kidney
27	chr8:131342800-131355000	Weak transcription	Pancreas	Pancrea
28	chr8:131343000-131346800	Weak transcription	GM12878-XiMat	blood
29	chr8:131343000-131350800	Weak transcription	HepG2	liver
30	chr8:131343000-131351000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:131343000-131351000	Weak transcription	HMEC	breast
32	chr8:131343400-131347400	Weak transcription	Fetal Stomach	stomach
33	chr8:131343400-131347400	Weak transcription	NHEK	skin
34	chr8:131343400-131349000	Enhancers	Brain Germinal Matrix	brain
35	chr8:131343600-131346800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:131343600-131350600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:131343800-131347200	Weak transcription	Placenta	Placenta
38	chr8:131343800-131347200	Weak transcription	Gastric	stomach
39	chr8:131343800-131347400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:131343800-131347400	Weak transcription	K562	blood
41	chr8:131343800-131350800	Weak transcription	Thymus	Thymus
42	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:131344000-131350200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:131344200-131346800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:131344200-131347200	Weak transcription	Psoas Muscle	Psoas
46	chr8:131344200-131347200	Weak transcription	Right Ventricle	heart
47	chr8:131344200-131349000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:131344400-131347000	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:131344400-131347200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:131344400-131347200	Weak transcription	Small Intestine	intestine

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