Variant report

Variant	rs3191333
Chromosome Location	chr8:103662219-103662220
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
2	chr8:103656192..103659911-chr8:103661588..103665450,4	K562	blood:
3	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
4	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
5	chr8:103661922..103664051-chr8:103767209..103770139,2	MCF-7	breast:
6	chr8:103422740..103426162-chr8:103661845..103666384,4	MCF-7	breast:
7	chr2:79067719..79069238-chr8:103661091..103662803,2	K562	blood:
8	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10106298	0.92[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1076030	0.81[CEU][hapmap];0.81[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13275089	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1434281	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1550005	0.83[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16869658	0.81[CHD][hapmap]
rs17773903	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2099408	0.81[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436936	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436940	0.81[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34217554	0.82[ASN][1000 genomes]
rs35155104	0.83[ASN][1000 genomes]
rs4281092	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4734648	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs4734652	0.83[ASN][1000 genomes]
rs4734654	0.94[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62523309	0.82[ASN][1000 genomes]
rs6998277	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7002992	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7013496	0.81[ASN][1000 genomes]
rs7835270	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103656800-103663200	Weak transcription	Fetal Brain Male	brain
2	chr8:103658000-103663200	Weak transcription	Fetal Heart	heart
3	chr8:103658800-103663200	Weak transcription	Stomach Mucosa	stomach
4	chr8:103658800-103663200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:103659200-103662800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:103659200-103663400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr8:103659400-103663800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:103659600-103663200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:103659600-103663400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:103659600-103663400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:103659600-103664000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:103659800-103662400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:103659800-103662400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:103659800-103662400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:103659800-103662800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:103659800-103662800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:103659800-103663000	Strong transcription	Fetal Intestine Large	intestine
18	chr8:103659800-103663200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:103659800-103663200	Strong transcription	Primary T cells from cord blood	blood
20	chr8:103659800-103663200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr8:103659800-103663200	Strong transcription	HUVEC	blood vessel
22	chr8:103659800-103663200	Strong transcription	NHDF-Ad	bronchial
23	chr8:103659800-103663200	Strong transcription	Osteobl	bone
24	chr8:103659800-103663400	Genic enhancers	A549	lung
25	chr8:103659800-103663400	Strong transcription	NH-A	brain
26	chr8:103659800-103663600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr8:103659800-103663600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:103659800-103663600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:103659800-103663800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:103659800-103663800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:103659800-103664000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:103659800-103664200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:103660000-103663200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:103660000-103663200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr8:103660000-103663800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:103660000-103663800	Strong transcription	Primary B cells from cord blood	blood
37	chr8:103660000-103664000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:103660000-103664400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:103660200-103663200	Strong transcription	Fetal Thymus	thymus
40	chr8:103660400-103663400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:103660600-103663200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:103660600-103664200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:103660800-103662800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:103660800-103663200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:103660800-103663400	Weak transcription	Brain Substantia Nigra	brain
46	chr8:103660800-103663400	Strong transcription	Hela-S3	cervix
47	chr8:103661000-103663600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:103661000-103663800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:103661200-103662400	Strong transcription	HepG2	liver
50	chr8:103661200-103663200	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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