Variant report

Variant	rs10080034
Chromosome Location	chr5:41914086-41914087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41908677..41910534-chr5:41913765..41916723,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10037152	0.83[AFR][1000 genomes]
rs10038717	0.91[AFR][1000 genomes]
rs10039091	0.95[AFR][1000 genomes]
rs10042050	0.87[AFR][1000 genomes]
rs10045224	0.91[AFR][1000 genomes]
rs10051536	0.87[AFR][1000 genomes]
rs10061961	0.87[AFR][1000 genomes]
rs10064781	0.86[AFR][1000 genomes]
rs10071732	0.84[AFR][1000 genomes]
rs10072903	0.95[AFR][1000 genomes]
rs10079775	1.00[AFR][1000 genomes]
rs10214013	0.91[AFR][1000 genomes]
rs10473254	1.00[AFR][1000 genomes]
rs13354429	0.95[AFR][1000 genomes]
rs13357640	0.91[AFR][1000 genomes]
rs13358155	0.95[AFR][1000 genomes]
rs16872021	0.87[AFR][1000 genomes]
rs28429157	0.87[AFR][1000 genomes]
rs28588578	0.91[AFR][1000 genomes]
rs28661292	0.87[AFR][1000 genomes]
rs9292830	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41905000-41924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:41905200-41915400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:41905200-41918200	Weak transcription	Aorta	Aorta
4	chr5:41905200-41925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:41905600-41921000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:41905600-41924600	Weak transcription	Small Intestine	intestine
7	chr5:41905800-41918200	Weak transcription	Psoas Muscle	Psoas
8	chr5:41905800-41918200	Weak transcription	Spleen	Spleen
9	chr5:41905800-41922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:41905800-41923800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:41905800-41924400	Weak transcription	Stomach Mucosa	stomach
12	chr5:41905800-41925000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:41905800-41925000	Weak transcription	Gastric	stomach
14	chr5:41906200-41921200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:41906400-41916400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:41906400-41920600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:41906400-41921000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:41906400-41922200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr5:41906600-41918200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr5:41906800-41924600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:41907000-41922200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:41907000-41923600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:41907200-41914400	Weak transcription	Fetal Intestine Small	intestine
24	chr5:41907200-41915600	Strong transcription	K562	blood
25	chr5:41907200-41922400	Strong transcription	Liver	Liver
26	chr5:41907400-41920600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:41907400-41921600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:41907600-41914400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:41907600-41921000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:41907800-41914600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:41907800-41915600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:41907800-41915600	Strong transcription	Hela-S3	cervix
33	chr5:41907800-41915800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:41907800-41916000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr5:41907800-41920600	Strong transcription	Primary B cells from cord blood	blood
36	chr5:41907800-41920800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:41907800-41921000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:41907800-41921200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:41907800-41921200	Strong transcription	Brain Hippocampus Middle	brain
40	chr5:41907800-41922200	Strong transcription	Fetal Thymus	thymus
41	chr5:41907800-41922400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:41908000-41914800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr5:41908000-41916600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:41908000-41920400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:41908000-41920400	Strong transcription	HUVEC	blood vessel
46	chr5:41908000-41920800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:41908000-41920800	Strong transcription	Placenta	Placenta
48	chr5:41908000-41921200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:41908000-41921400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr5:41908000-41922400	Strong transcription	Adipose Nuclei	Adipose

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