Variant report

Variant	rs2959642
Chromosome Location	chr8:99031348-99031349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99024327..99027909-chr8:99029199..99033016,4	MCF-7	breast:
2	chr8:99026660..99028178-chr8:99029956..99031534,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088117	0.86[AFR][1000 genomes]
rs10093417	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12334735	0.86[AFR][1000 genomes]
rs13439751	0.85[AFR][1000 genomes]
rs1378122	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2010016	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2061052	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2331692	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2444859	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2444866	0.83[EUR][1000 genomes]
rs2444885	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2444894	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2444898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2447488	0.81[ASN][1000 genomes]
rs2513806	0.97[ASN][1000 genomes]
rs2513808	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513815	0.92[ASN][1000 genomes]
rs2513817	0.81[ASN][1000 genomes]
rs2513819	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2513823	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73701228	0.86[AFR][1000 genomes]
rs748324	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99012000-99032000	Weak transcription	Gastric	stomach
3	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
6	chr8:99021000-99032200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:99021200-99032800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:99021200-99053600	Weak transcription	A549	lung
9	chr8:99021400-99033400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
11	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:99023000-99033400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:99023600-99034800	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr8:99023800-99041200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:99024000-99032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:99024000-99044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
18	chr8:99024200-99032800	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:99024200-99033200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:99024200-99033200	Weak transcription	NHDF-Ad	bronchial
21	chr8:99024200-99033600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:99024200-99042800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
24	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
25	chr8:99024400-99032800	Weak transcription	HSMMtube	muscle
26	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:99025200-99045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:99025400-99032600	Strong transcription	Fetal Stomach	stomach
29	chr8:99025400-99045200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:99026000-99033200	Weak transcription	NHLF	lung
31	chr8:99026800-99033400	Weak transcription	Small Intestine	intestine
32	chr8:99026800-99036600	Weak transcription	Lung	lung
33	chr8:99027200-99031400	Weak transcription	Dnd41	blood
34	chr8:99027400-99032200	Strong transcription	Fetal Muscle Leg	muscle
35	chr8:99027600-99037400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:99027600-99045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:99027800-99032800	Weak transcription	Fetal Heart	heart
38	chr8:99028200-99032400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:99028400-99033400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:99028600-99032000	Strong transcription	Ovary	ovary
41	chr8:99028800-99032000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr8:99028800-99045400	Weak transcription	Fetal Brain Female	brain
43	chr8:99029000-99032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:99029200-99033400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:99030000-99031600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr8:99030000-99032200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr8:99030000-99045000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:99030000-99045200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:99030400-99033200	Weak transcription	Adipose Nuclei	Adipose

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