Variant report

Variant	rs4870921
Chromosome Location	chr8:125732009-125732010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125731376..125734284-chr8:125972311..125974487,2	MCF-7	breast:
2	chr8:125730741..125733340-chr8:125739918..125741869,2	K562	blood:
3	chr8:125687873..125690261-chr8:125731665..125733961,2	MCF-7	breast:
4	chr8:125730674..125732693-chr8:125825139..125827888,2	K562	blood:
5	chr8:125723773..125726470-chr8:125730647..125734665,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1430849	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2891101	0.86[ASN][1000 genomes]
rs4870925	0.86[ASN][1000 genomes]
rs7824749	0.86[ASN][1000 genomes]
rs891539	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs891542	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs891543	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891544	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967943	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125722200-125732200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125722600-125732600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:125723200-125737200	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125723600-125737200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125724600-125732400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:125724600-125732400	Weak transcription	Esophagus	oesophagus
7	chr8:125724600-125738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125724800-125737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:125725600-125735200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:125726200-125732400	Enhancers	HepG2	liver
11	chr8:125726800-125734000	Weak transcription	Fetal Thymus	thymus
12	chr8:125727600-125732400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:125727600-125732800	Enhancers	Left Ventricle	heart
14	chr8:125728000-125732600	Weak transcription	Fetal Intestine Large	intestine
15	chr8:125728000-125734800	Enhancers	Fetal Muscle Leg	muscle
16	chr8:125728400-125732400	Weak transcription	K562	blood
17	chr8:125728400-125734800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:125728600-125732400	Weak transcription	Gastric	stomach
19	chr8:125728600-125732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:125728800-125732400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:125728800-125732400	Enhancers	Liver	Liver
22	chr8:125728800-125732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:125728800-125732600	Enhancers	Primary B cells from cord blood	blood
24	chr8:125728800-125736400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125729000-125733000	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:125729200-125732400	Weak transcription	Placenta	Placenta
27	chr8:125730000-125733200	Enhancers	Brain Hippocampus Middle	brain
28	chr8:125730000-125733600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:125730000-125735000	Enhancers	Right Ventricle	heart
30	chr8:125730000-125735600	Enhancers	Spleen	Spleen
31	chr8:125730000-125737600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:125730200-125733000	Enhancers	Brain Anterior Caudate	brain
33	chr8:125730200-125733000	Enhancers	Lung	lung
34	chr8:125730200-125733400	Enhancers	Brain Angular Gyrus	brain
35	chr8:125730200-125733400	Enhancers	Psoas Muscle	Psoas
36	chr8:125730200-125737000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:125730200-125737600	Enhancers	Fetal Heart	heart
38	chr8:125730400-125732200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:125730400-125733000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:125730600-125733400	Enhancers	Right Atrium	heart
41	chr8:125730600-125733600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:125730800-125732600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:125730800-125733400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr8:125730800-125734000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:125731000-125732200	Weak transcription	Fetal Intestine Small	intestine
46	chr8:125731000-125732400	Weak transcription	Fetal Stomach	stomach
47	chr8:125731000-125734000	Weak transcription	Fetal Brain Female	brain
48	chr8:125731000-125734600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:125731000-125738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:125731200-125732200	Weak transcription	HUVEC	blood vessel

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