Variant report

Variant	rs45601238
Chromosome Location	chr10:97008950-97008951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:97008381-97009026	GM12892	blood:	n/a	n/a
2	POLR2A	chr10:97008427-97009093	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:97008349-97009336	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:97008321-97009087	GM12892	blood:	n/a	n/a
5	POLR2A	chr10:97008485-97009122	A549	lung:	n/a	n/a
6	POLR2A	chr10:97008791-97009107	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:97008375-97009186	GM12892	blood:	n/a	n/a
8	POLR2A	chr10:97008792-97009081	A549	lung:	n/a	n/a
9	POLR2A	chr10:97008773-97009043	A549	lung:	n/a	n/a
10	POLR2A	chr10:97008473-97009235	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr10:97008619-97009125	HEK293-T-REx	kidney:	n/a	chr10:97008945-97008954
12	POLR2A	chr10:97008740-97009115	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:97008920-97008970	NHDF-neo	bronchial:	n/a
2	chr10:97008920-97008970	HRE	kidney:	n/a
3	chr10:97008920-97008970	T-47D	breast:	n/a
4	chr10:97008920-97008970	BJ	skin:	n/a
5	chr10:97008920-97008970	RPTEC	kidney:	n/a
6	chr10:97008920-97008970	CMK	blood:	n/a
7	chr10:97008920-97008970	HCF	heart:	n/a
8	chr10:97008920-97008970	HIPEpiC	eye:	n/a
9	chr10:97008920-97008970	HNPCEpiC	eye:	n/a
10	chr10:97008920-97008970	AG04449	skin:	fetal
11	chr10:97008920-97008970	GM06990	blood:	n/a
12	chr10:97008920-97008970	HCPEpiC	choroid plexus:	n/a
13	chr10:97008920-97008970	LNCaP	prostate:	n/a
14	chr10:97008920-97008970	AG09309	skin:	n/a
15	chr10:97008920-97008970	HRCEpiC	kidney:	n/a
16	chr10:97008920-97008970	Hepatocyte	liver:	n/a
17	chr10:97008920-97008970	NB4	blood:	n/a
18	chr10:97008920-97008970	HEEpiC	esophagus:	n/a
19	chr10:97008920-97008970	A549	lung:	n/a
20	chr10:97008920-97008970	AG10803	skin:	n/a
21	chr10:97008920-97008970	Jurkat	blood:	n/a
22	chr10:97008920-97008970	PANC-1	pancreas:	n/a
23	chr10:97008920-97008970	NH-A	brain:	n/a
24	chr10:97008920-97008970	ovcar-3	ovarian:	n/a
25	chr10:97008920-97008970	NHBE	bronchial:	n/a
26	chr10:97008920-97008970	SK-N-SH_RA	brain:	n/a
27	chr10:97008920-97008970	HL-60	blood:	n/a
28	chr10:97008920-97008970	ECC-1	luminal epithelium:	n/a
29	chr10:97008920-97008970	U87	brain:	n/a
30	chr10:97008920-97008970	AoSMC	blood vessel:	n/a
31	chr10:97008920-97008970	SK-N-MC	brain:	n/a
32	chr10:97008920-97008970	PFSK-1	brain:	n/a
33	chr10:97008920-97008970	SKMC	muscle:	n/a
34	chr10:97008920-97008970	Hela-S3	cervix:	n/a
35	chr10:97008920-97008970	HCT-116	colon:	n/a
36	chr10:97008920-97008970	HUVEC	blood vessel:	n/a
37	chr10:97008920-97008970	HPAEpiC	pulmonary alveolar:	n/a
38	chr10:97008920-97008970	ProgFib	skin:	n/a
39	chr10:97008920-97008970	BE2_C	brain:	n/a
40	chr10:97008920-97008970	AG04450	lung:	fetal
41	chr10:97008920-97008970	IMR90	lung:	fetal
42	chr10:97008920-97008970	HAEpiC	amniotic membrane:	n/a
43	chr10:97008920-97008970	Caco-2	colon:	n/a
44	chr10:97008920-97008970	HRPEpiC	eye:	n/a
45	chr10:97008920-97008970	HMEC	breast:	n/a
46	chr10:97008920-97008970	GM19239	blood:	n/a
47	chr10:97008920-97008970	HepG2	liver:	n/a
48	chr10:97008920-97008970	GM12892	blood:	n/a
49	chr10:97008920-97008970	K562	blood:	n/a
50	chr10:97008920-97008970	HEK293	kidney:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:97007670..97009998-chr10:97020607..97023208,2	K562	blood:
2	chr10:97008297..97008984-chr10:97122748..97123299,2	K562	blood:
3	chr10:97003964..97007161-chr10:97008382..97011315,3	K562	blood:

No data

Variant related genes	Relation type
PDLIM1	TF binding region
PDLIM1	CpG island

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

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	0.93[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];1.00[ASN][1000 genomes]
rs12763201	1.00[ASN][1000 genomes]
rs12763939	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766965	1.00[ASN][1000 genomes]
rs12774244	1.00[ASN][1000 genomes]
rs12777852	0.85[AMR][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	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452714	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523627	1.00[ASN][1000 genomes]
rs17524348	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17525659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34031095	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34119978	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34246390	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34254643	1.00[ASN][1000 genomes]
rs34320910	1.00[ASN][1000 genomes]
rs34409900	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34462937	1.00[ASN][1000 genomes]
rs34729632	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34883883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34949438	1.00[ASN][1000 genomes]
rs35203700	0.90[AMR][1000 genomes];0.81[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];0.95[AMR][1000 genomes];0.97[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];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45523137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45535939	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45546031	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]
rs66816038	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670565	1.00[ASN][1000 genomes]
rs67403627	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67728892	1.00[ASN][1000 genomes]
rs67737822	0.90[AMR][1000 genomes];0.81[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]
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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:96992200-97009000	Strong transcription	Liver	Liver
5	chr10:96996400-97016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:96996800-97009400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:96998200-97009400	Weak transcription	Small Intestine	intestine
8	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:96999800-97009000	Strong transcription	Primary B cells from cord blood	blood
10	chr10:97000000-97009400	Strong transcription	Colonic Mucosa	Colon
11	chr10:97000400-97024400	Weak transcription	Fetal Kidney	kidney
12	chr10:97004000-97009200	Strong transcription	Fetal Lung	lung
13	chr10:97004800-97009800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:97005600-97011000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:97005600-97011800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:97006200-97011400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:97006200-97017600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr10:97006400-97009600	Enhancers	NHDF-Ad	bronchial
19	chr10:97006400-97019600	Weak transcription	K562	blood
20	chr10:97006600-97009000	Genic enhancers	HepG2	liver
21	chr10:97006600-97009600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:97006600-97010000	Enhancers	Right Atrium	heart
23	chr10:97006600-97010000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr10:97006800-97009400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr10:97006800-97009800	Genic enhancers	GM12878-XiMat	blood
26	chr10:97007000-97009200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:97007000-97009800	Enhancers	Fetal Heart	heart
28	chr10:97007000-97026400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr10:97007200-97012200	Strong transcription	Fetal Stomach	stomach
30	chr10:97007200-97013000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr10:97007600-97009200	Enhancers	Aorta	Aorta
32	chr10:97007600-97009800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:97007600-97009800	Genic enhancers	Spleen	Spleen
34	chr10:97007600-97014000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:97007600-97020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:97007800-97012200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr10:97007800-97012200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr10:97007800-97020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:97008000-97009600	Genic enhancers	NHEK	skin
40	chr10:97008000-97009800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:97008000-97010600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:97008000-97016000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:97008000-97016200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:97008000-97016600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr10:97008000-97019400	Weak transcription	Placenta	Placenta
46	chr10:97008000-97020200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr10:97008200-97009200	Genic enhancers	Esophagus	oesophagus
48	chr10:97008200-97009400	Strong transcription	Fetal Intestine Small	intestine
49	chr10:97008200-97009800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:97008200-97010000	Genic enhancers	NHLF	lung

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