Variant report

Variant	rs4871376
Chromosome Location	chr8:124445844-124445845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124444487..124447006-chr8:124447835..124450381,2	K562	blood:
2	chr8:124428103..124430762-chr8:124445455..124448979,3	K562	blood:
3	chr8:124443028..124445940-chr8:124779849..124782260,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156795	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10087527	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089561	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110826	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216826	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12234925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817527	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35680076	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4541891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871365	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871379	0.90[EUR][1000 genomes]
rs4871381	0.90[EUR][1000 genomes]
rs6470148	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984935	0.83[EUR][1000 genomes]
rs6989927	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7004908	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341642	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7822727	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838923	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841922	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430000-124449200	Weak transcription	Small Intestine	intestine
2	chr8:124430000-124450200	Weak transcription	Brain Germinal Matrix	brain
3	chr8:124430200-124447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:124430200-124448600	Weak transcription	NHEK	skin
5	chr8:124430200-124448600	Weak transcription	NHLF	lung
6	chr8:124430200-124448800	Weak transcription	NHDF-Ad	bronchial
7	chr8:124430200-124449000	Weak transcription	Osteobl	bone
8	chr8:124430200-124449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:124430200-124449200	Weak transcription	HUVEC	blood vessel
10	chr8:124430200-124455400	Weak transcription	Fetal Kidney	kidney
11	chr8:124430200-124456000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:124430200-124472800	Weak transcription	Colonic Mucosa	Colon
13	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
14	chr8:124430400-124447000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:124430400-124449200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:124430400-124453000	Weak transcription	Fetal Lung	lung
17	chr8:124430600-124461800	Weak transcription	Fetal Brain Male	brain
18	chr8:124431000-124450000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:124431200-124460200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:124431200-124462200	Weak transcription	Fetal Heart	heart
21	chr8:124436600-124464400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124437400-124447000	Weak transcription	GM12878-XiMat	blood
23	chr8:124437600-124462400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:124439000-124451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:124439400-124453600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:124439800-124448800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:124439800-124451600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:124440000-124453600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:124440200-124454200	Strong transcription	Dnd41	blood
30	chr8:124440400-124448000	Strong transcription	Fetal Stomach	stomach
31	chr8:124440400-124453200	Strong transcription	Fetal Intestine Small	intestine
32	chr8:124440600-124446600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:124440600-124447600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:124440600-124450800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr8:124440600-124454200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:124440600-124454400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:124440600-124456200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:124440800-124446600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:124440800-124448800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:124441000-124446000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:124441000-124446200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:124441000-124446600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:124441000-124447600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:124441000-124447600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:124441000-124448000	Strong transcription	Lung	lung
46	chr8:124441000-124449200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:124441000-124454400	Strong transcription	HepG2	liver
48	chr8:124441200-124446600	Strong transcription	Brain Anterior Caudate	brain
49	chr8:124441400-124447400	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:124441400-124449000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links