Variant report

Variant	rs1378122
Chromosome Location	chr8:99047188-99047189
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99044015..99047319-chr8:99128831..99131004,3	MCF-7	breast:
2	chr8:98919911..98922247-chr8:99046173..99048489,2	MCF-7	breast:
3	chr8:98884431..98886188-chr8:99045640..99048054,2	MCF-7	breast:
4	chr8:99032274..99033861-chr8:99045862..99047865,2	MCF-7	breast:
5	chr8:99038891..99041151-chr8:99046803..99048335,2	MCF-7	breast:
6	chr8:98850183..98852716-chr8:99046783..99048608,2	MCF-7	breast:
7	chr8:99043990..99046244-chr8:99047156..99049602,2	MCF-7	breast:
8	chr8:99046565..99048917-chr8:99089595..99092065,2	MCF-7	breast:
9	chr8:99045803..99047373-chr8:99047761..99049281,2	K562	blood:
10	chr8:98845847..98848474-chr8:99046760..99048415,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104356	Chromatin interaction
ENSG00000132541	Chromatin interaction
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088117	0.88[AFR][1000 genomes]
rs10093417	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334735	0.88[AFR][1000 genomes]
rs13439751	0.86[AFR][1000 genomes]
rs2010016	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2061052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255317	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2331692	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2444859	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2444866	0.84[EUR][1000 genomes]
rs2444885	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2444894	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2444898	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447488	0.82[ASN][1000 genomes]
rs2513806	0.96[ASN][1000 genomes]
rs2513808	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513815	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2513817	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2513819	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2513823	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28638239	0.80[AFR][1000 genomes]
rs2959642	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73701228	0.88[AFR][1000 genomes]
rs748324	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99021200-99053600	Weak transcription	A549	lung
2	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
4	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
5	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
6	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
9	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
10	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:99033800-99054800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:99033800-99055200	Weak transcription	Small Intestine	intestine
13	chr8:99033800-99055600	Weak transcription	Left Ventricle	heart
14	chr8:99034200-99050800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:99034200-99054200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:99034200-99054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:99035400-99047200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr8:99036000-99047400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:99036400-99048600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:99036800-99053200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:99037200-99049200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:99037200-99053200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:99037600-99052400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:99037600-99054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:99037600-99056400	Weak transcription	Lung	lung
26	chr8:99038000-99047200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr8:99039000-99048800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:99039200-99053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:99040200-99048600	Weak transcription	NHLF	lung
30	chr8:99041200-99048800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:99041400-99053600	Weak transcription	Psoas Muscle	Psoas
32	chr8:99041600-99051400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:99042400-99053000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:99042600-99047200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:99042600-99048800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:99043200-99047200	Strong transcription	Dnd41	blood
37	chr8:99043400-99048600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:99043600-99047200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr8:99043600-99055400	Weak transcription	Esophagus	oesophagus
40	chr8:99043800-99047200	Strong transcription	Fetal Intestine Large	intestine
41	chr8:99043800-99047200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr8:99043800-99052400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:99044000-99048800	Strong transcription	Fetal Thymus	thymus
44	chr8:99044200-99048400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:99044200-99048800	Weak transcription	NHEK	skin
46	chr8:99044200-99054400	Weak transcription	Brain Germinal Matrix	brain
47	chr8:99044200-99054400	Weak transcription	HepG2	liver
48	chr8:99044400-99047200	Strong transcription	Fetal Kidney	kidney
49	chr8:99044600-99050200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:99044600-99054200	Weak transcription	Fetal Lung	lung

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