Variant report

Variant	rs59009188
Chromosome Location	chr2:128618318-128618319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:128617321-128618692	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:128617345-128620317	K562	blood:	n/a	n/a
3	MYC	chr2:128618193-128618679	K562	blood:	n/a	n/a
4	POLR2A	chr2:128617684-128618352	U87	brain:	n/a	n/a
5	MAX	chr2:128618286-128618691	K562	blood:	n/a	n/a
6	POLR2A	chr2:128617343-128618626	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr2:128617862-128618616	U87	brain:	n/a	n/a
8	POLR2A	chr2:128617812-128621544	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:128618063-128618560	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:128617472-128618565	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:128617815-128618641	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr2:128617241-128618640	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:128617556-128618336	PFSK-1	brain:	n/a	n/a
14	PML	chr2:128618125-128618541	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:128618224-128618637	HepG2	liver:	n/a	n/a
16	TCF12	chr2:128617992-128618329	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:128617503-128620360	A549	lung:	n/a	n/a
18	POLR2A	chr2:128617684-128618561	U87	brain:	n/a	n/a
19	POLR2A	chr2:128617869-128618430	MCF-7	breast:	n/a	n/a
20	POLR2A	chr2:128617984-128618356	HCT-116	colon:	n/a	n/a
21	POLR2A	chr2:128618212-128618339	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128615754..128618415-chr2:128764855..128766947,2	K562	blood:
2	chr2:128617353..128620952-chr2:128626846..128630726,3	MCF-7	breast:
3	chr2:128613232..128619582-chr2:128635761..128644297,14	MCF-7	breast:
4	chr2:128600810..128606151-chr2:128613987..128618367,4	MCF-7	breast:
5	chr2:128617356..128621045-chr2:128621951..128625083,3	MCF-7	breast:
6	chr2:128456928..128461818-chr2:128614361..128619035,7	MCF-7	breast:

No data

Variant related genes	Relation type
POLR2D	TF binding region
ENSG00000202532	Chromatin interaction
ENSG00000272667	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000144233	Chromatin interaction
ENSG00000270081	Chromatin interaction
ENSG00000244563	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10171898	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10210695	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11557685	0.86[ASN][1000 genomes]
rs11674513	0.86[ASN][1000 genomes]
rs11678032	0.86[ASN][1000 genomes]
rs11692524	0.86[ASN][1000 genomes]
rs11693759	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13397060	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs13421835	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs13423029	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17418125	0.86[ASN][1000 genomes]
rs17534053	0.86[ASN][1000 genomes]
rs17534123	0.86[ASN][1000 genomes]
rs17599575	0.86[ASN][1000 genomes]
rs17600177	0.86[ASN][1000 genomes]
rs3771291	0.86[ASN][1000 genomes]
rs56954978	0.86[ASN][1000 genomes]
rs57498556	0.86[ASN][1000 genomes]
rs57913162	0.86[ASN][1000 genomes]
rs57986825	0.86[ASN][1000 genomes]
rs58080260	0.86[ASN][1000 genomes]
rs59090605	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs59727076	0.86[ASN][1000 genomes]
rs59918187	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs60087786	0.86[ASN][1000 genomes]
rs61187878	0.86[ASN][1000 genomes]
rs61730415	0.86[ASN][1000 genomes]
rs6714620	0.86[ASN][1000 genomes]
rs6734925	0.86[ASN][1000 genomes]
rs6756507	0.86[ASN][1000 genomes]
rs72963794	0.86[ASN][1000 genomes]
rs7560482	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7574303	0.94[ASN][1000 genomes]
rs7575961	0.86[ASN][1000 genomes]
rs7585200	0.86[ASN][1000 genomes]
rs7591477	0.86[ASN][1000 genomes]
rs7605158	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59009188	WDR33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128616000-128619800	Weak transcription	Spleen	Spleen
2	chr2:128616000-128621400	Weak transcription	Small Intestine	intestine
3	chr2:128616200-128619800	Weak transcription	Thymus	Thymus
4	chr2:128616200-128619800	Weak transcription	NHLF	lung
5	chr2:128616200-128620400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:128616200-128620600	Weak transcription	Esophagus	oesophagus
7	chr2:128616200-128620600	Weak transcription	NH-A	brain
8	chr2:128616200-128620800	Weak transcription	Lung	lung
9	chr2:128616200-128620800	Weak transcription	Ovary	ovary
10	chr2:128616200-128620800	Weak transcription	HUVEC	blood vessel
11	chr2:128616200-128621000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:128616200-128621000	Weak transcription	Brain Substantia Nigra	brain
13	chr2:128616200-128621000	Weak transcription	Hela-S3	cervix
14	chr2:128616200-128621200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:128616200-128621400	Weak transcription	Psoas Muscle	Psoas
16	chr2:128616200-128621600	Weak transcription	NHDF-Ad	bronchial
17	chr2:128616200-128621800	Weak transcription	Aorta	Aorta
18	chr2:128616200-128624000	Weak transcription	Stomach Mucosa	stomach
19	chr2:128616200-128628400	Weak transcription	Fetal Brain Male	brain
20	chr2:128616200-128641400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:128616400-128618800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:128616400-128619200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:128616400-128619600	Weak transcription	HSMM	muscle
24	chr2:128616400-128619800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:128616400-128620000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:128616400-128620000	Weak transcription	Osteobl	bone
27	chr2:128616400-128620600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:128616400-128620600	Weak transcription	Brain Angular Gyrus	brain
29	chr2:128616400-128620600	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:128616400-128620600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:128616400-128620600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:128616400-128620800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:128616400-128620800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:128616400-128620800	Weak transcription	Colonic Mucosa	Colon
35	chr2:128616400-128621400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:128616800-128620000	Weak transcription	Dnd41	blood
37	chr2:128617000-128618800	Enhancers	Fetal Muscle Leg	muscle
38	chr2:128617200-128618400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:128617200-128618400	Enhancers	Fetal Kidney	kidney
40	chr2:128617200-128618800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:128617200-128620200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:128617400-128618400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:128617400-128618400	Enhancers	Fetal Heart	heart
44	chr2:128617400-128618600	Enhancers	Fetal Lung	lung
45	chr2:128617400-128619000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:128617400-128619200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:128617400-128619600	Weak transcription	Primary B cells from cord blood	blood
48	chr2:128617400-128621000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:128617600-128618600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:128617600-128619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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