Variant report

Variant	rs66816038
Chromosome Location	chr10:97001139-97001140
allele	C/T
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	chr10:96999907-97002082	GM12892	blood:	n/a	n/a
2	POLR2A	chr10:97000935-97001640	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:97000377-97002028	GM12891	blood:	n/a	n/a
4	POLR2A	chr10:97001035-97001980	GM12891	blood:	n/a	n/a
5	POLR2A	chr10:96999917-97002003	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:97000092-97001998	A549	lung:	n/a	n/a
7	POLR2A	chr10:97001035-97001863	GM12892	blood:	n/a	n/a
8	POLR2A	chr10:97000762-97001513	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:97000411-97001737	GM12892	blood:	n/a	n/a
10	POLR2A	chr10:97000018-97002071	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
PDLIM1	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10509681	1.00[ASN][1000 genomes]
rs11188148	1.00[ASN][1000 genomes]
rs11188153	1.00[ASN][1000 genomes]
rs11188154	1.00[ASN][1000 genomes]
rs11572064	1.00[ASN][1000 genomes]
rs11572080	1.00[ASN][1000 genomes]
rs11572082	1.00[ASN][1000 genomes]
rs11572094	1.00[ASN][1000 genomes]
rs11572107	1.00[ASN][1000 genomes]
rs11572116	1.00[ASN][1000 genomes]
rs11572128	1.00[ASN][1000 genomes]
rs11572150	1.00[ASN][1000 genomes]
rs11572168	1.00[ASN][1000 genomes]
rs11572169	1.00[ASN][1000 genomes]
rs11572174	1.00[ASN][1000 genomes]
rs11591385	1.00[ASN][1000 genomes]
rs11593816	1.00[ASN][1000 genomes]
rs11598823	1.00[ASN][1000 genomes]
rs12761249	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12761315	1.00[ASN][1000 genomes]
rs12762602	1.00[ASN][1000 genomes]
rs12762652	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12763201	1.00[ASN][1000 genomes]
rs12763939	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766965	1.00[ASN][1000 genomes]
rs12774244	1.00[ASN][1000 genomes]
rs12777852	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778481	1.00[ASN][1000 genomes]
rs12779007	1.00[ASN][1000 genomes]
rs12779339	1.00[ASN][1000 genomes]
rs12780333	1.00[ASN][1000 genomes]
rs12784371	1.00[ASN][1000 genomes]
rs17452671	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452714	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453533	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523627	1.00[ASN][1000 genomes]
rs17524348	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17525659	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1934954	1.00[ASN][1000 genomes]
rs34031095	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34119978	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246390	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34254643	1.00[ASN][1000 genomes]
rs34320910	1.00[ASN][1000 genomes]
rs34409900	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34462937	1.00[ASN][1000 genomes]
rs34729632	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34883883	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34949438	1.00[ASN][1000 genomes]
rs35203700	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35213500	1.00[ASN][1000 genomes]
rs35238981	1.00[ASN][1000 genomes]
rs35432490	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35461306	1.00[ASN][1000 genomes]
rs35598837	1.00[ASN][1000 genomes]
rs35883122	1.00[ASN][1000 genomes]
rs35955220	1.00[ASN][1000 genomes]
rs35998772	1.00[ASN][1000 genomes]
rs36037322	1.00[ASN][1000 genomes]
rs36042065	1.00[ASN][1000 genomes]
rs36168663	1.00[ASN][1000 genomes]
rs45457395	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45523137	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45535939	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45546031	1.00[ASN][1000 genomes]
rs45601238	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483239	1.00[ASN][1000 genomes]
rs507728	1.00[ASN][1000 genomes]
rs56028148	1.00[ASN][1000 genomes]
rs570849	1.00[ASN][1000 genomes]
rs595924	1.00[ASN][1000 genomes]
rs601746	1.00[ASN][1000 genomes]
rs623544	1.00[ASN][1000 genomes]
rs639937	1.00[ASN][1000 genomes]
rs659309	1.00[ASN][1000 genomes]
rs66648066	1.00[ASN][1000 genomes]
rs670565	1.00[ASN][1000 genomes]
rs67403627	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67728892	1.00[ASN][1000 genomes]
rs67737822	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67851687	1.00[ASN][1000 genomes]
rs67918795	1.00[ASN][1000 genomes]
rs682349	1.00[ASN][1000 genomes]
rs684203	1.00[ASN][1000 genomes]
rs686705	1.00[ASN][1000 genomes]
rs701889	1.00[ASN][1000 genomes]
rs7082506	1.00[ASN][1000 genomes]
rs7099702	1.00[ASN][1000 genomes]
rs71482344	1.00[ASN][1000 genomes]
rs71505737	1.00[ASN][1000 genomes]
rs72818680	1.00[ASN][1000 genomes]
rs72818681	1.00[ASN][1000 genomes]
rs72820645	1.00[ASN][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	chr10:96992000-97005000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr10:96992000-97005800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:96992200-97009000	Strong transcription	Liver	Liver
16	chr10:96992400-97006200	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr10:96992600-97004000	Strong transcription	Fetal Intestine Large	intestine
18	chr10:96995200-97002600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:96996200-97001800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr10:96996200-97004000	Strong transcription	Fetal Intestine Small	intestine
21	chr10:96996200-97006600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr10:96996400-97016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr10:96996600-97007000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr10:96996800-97002600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:96996800-97005000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr10:96996800-97006600	Weak transcription	HUVEC	blood vessel
27	chr10:96996800-97009400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:96997200-97002000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:96997600-97004800	Weak transcription	NH-A	brain
30	chr10:96997600-97006200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:96998000-97005800	Weak transcription	Hela-S3	cervix
32	chr10:96998000-97006400	Weak transcription	NHDF-Ad	bronchial
33	chr10:96998200-97001200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:96998200-97001400	Weak transcription	Fetal Heart	heart
35	chr10:96998200-97005000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:96998200-97009400	Weak transcription	Small Intestine	intestine
37	chr10:96998400-97002600	Weak transcription	Stomach Mucosa	stomach
38	chr10:96998400-97003200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr10:96998400-97006200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:96998400-97006400	Weak transcription	HSMM	muscle
41	chr10:96998400-97006600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:96998600-97001200	Weak transcription	Pancreas	Pancrea
44	chr10:96998600-97001200	Weak transcription	Right Ventricle	heart
45	chr10:96999400-97002600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr10:96999600-97008600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:96999800-97001200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:96999800-97001200	Strong transcription	Fetal Lung	lung
49	chr10:96999800-97002000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:96999800-97002600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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