Variant report

Variant	rs2026680
Chromosome Location	chr10:97000206-97000207
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:97000143-97000374	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr10:96999907-97002082	GM12892	blood:	n/a	n/a
3	POLR2A	chr10:96999917-97002003	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:97000092-97001998	A549	lung:	n/a	n/a
5	POLR2A	chr10:96999990-97000385	GM12891	blood:	n/a	n/a
6	POLR2A	chr10:97000157-97000303	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:97000018-97002071	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
PDLIM1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1049961	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11188243	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11188244	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188245	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12771349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778613	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778797	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778837	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2026681	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2860998	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2860999	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901833	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61868350	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61868351	0.96[ASN][1000 genomes]
rs7909905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910217	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96990800-97005200	Weak transcription	Psoas Muscle	Psoas
2	chr10:96991000-97001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:96991000-97001600	Weak transcription	Thymus	Thymus
4	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:96991000-97006600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr10:96991000-97006600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:96991000-97006600	Weak transcription	Right Atrium	heart
9	chr10:96991000-97007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
11	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:96991600-97001000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:96992000-97005000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr10:96992000-97005800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:96992200-97009000	Strong transcription	Liver	Liver
17	chr10:96992400-97006200	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr10:96992600-97004000	Strong transcription	Fetal Intestine Large	intestine
19	chr10:96995200-97002600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:96996200-97001800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr10:96996200-97004000	Strong transcription	Fetal Intestine Small	intestine
22	chr10:96996200-97006600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr10:96996400-97016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:96996600-97007000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr10:96996800-97002600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:96996800-97005000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr10:96996800-97006600	Weak transcription	HUVEC	blood vessel
28	chr10:96996800-97009400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:96997200-97002000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:96997600-97004800	Weak transcription	NH-A	brain
31	chr10:96997600-97006200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:96998000-97005800	Weak transcription	Hela-S3	cervix
33	chr10:96998000-97006400	Weak transcription	NHDF-Ad	bronchial
34	chr10:96998200-97001200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:96998200-97001400	Weak transcription	Fetal Heart	heart
36	chr10:96998200-97005000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:96998200-97009400	Weak transcription	Small Intestine	intestine
38	chr10:96998400-97000400	Weak transcription	Aorta	Aorta
39	chr10:96998400-97000600	Weak transcription	Esophagus	oesophagus
40	chr10:96998400-97002600	Weak transcription	Stomach Mucosa	stomach
41	chr10:96998400-97003200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr10:96998400-97006200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr10:96998400-97006400	Weak transcription	HSMM	muscle
44	chr10:96998400-97006600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:96998600-97000400	Weak transcription	HepG2	liver
47	chr10:96998600-97000600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:96998600-97000600	Weak transcription	Fetal Stomach	stomach
49	chr10:96998600-97001200	Weak transcription	Pancreas	Pancrea
50	chr10:96998600-97001200	Weak transcription	Right Ventricle	heart

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