Variant report

Variant	rs59182119
Chromosome Location	chr3:52713059-52713060
allele	A/C
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	chr3:52712913-52713111	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52567106..52571736-chr3:52712759..52716604,4	K562	blood:
2	chr3:52712073..52717938-chr3:52718038..52722104,14	K562	blood:

Variant related genes	Relation type
PBRM1	TF binding region
GNL3	TF binding region
ENSG00000168273	Chromatin interaction
ENSG00000168268	Chromatin interaction
ENSG00000163939	Chromatin interaction
ENSG00000163938	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1344932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052424	1.00[AMR][1000 genomes]
rs17052427	1.00[AMR][1000 genomes]
rs2079928	1.00[AMR][1000 genomes]
rs57522359	1.00[AMR][1000 genomes]
rs57607481	1.00[AMR][1000 genomes]
rs57931767	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58057636	1.00[AMR][1000 genomes]
rs60133283	1.00[AMR][1000 genomes]
rs60351358	0.81[AFR][1000 genomes]
rs60945641	1.00[AMR][1000 genomes]
rs61229218	0.83[AMR][1000 genomes]
rs6767229	1.00[AMR][1000 genomes]
rs6779626	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796577	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803865	1.00[AMR][1000 genomes]
rs6809065	0.86[AFR][1000 genomes]
rs72960298	1.00[AMR][1000 genomes]
rs7615320	1.00[AMR][1000 genomes]
rs7616059	1.00[AMR][1000 genomes]
rs7649820	0.81[AFR][1000 genomes];1.00[AMR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:52637200-52715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:52655200-52716400	Strong transcription	Fetal Thymus	thymus
5	chr3:52665400-52719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:52670800-52715400	Strong transcription	Dnd41	blood
7	chr3:52681200-52716200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr3:52688000-52714800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:52698800-52714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:52699400-52715600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:52700600-52715000	Strong transcription	Primary B cells from cord blood	blood
12	chr3:52701800-52715600	Strong transcription	Brain Germinal Matrix	brain
13	chr3:52702000-52714400	Strong transcription	Fetal Lung	lung
14	chr3:52703600-52716000	Strong transcription	Fetal Brain Female	brain
15	chr3:52703800-52713400	Strong transcription	Primary T cells from cord blood	blood
16	chr3:52703800-52715800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:52704000-52714200	Strong transcription	Thymus	Thymus
18	chr3:52704000-52714600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:52704000-52716000	Strong transcription	Fetal Muscle Leg	muscle
20	chr3:52704400-52714000	Strong transcription	Fetal Intestine Large	intestine
21	chr3:52704600-52714200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:52704800-52715600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr3:52705000-52714000	Strong transcription	Brain Anterior Caudate	brain
24	chr3:52705000-52714400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr3:52705200-52715200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr3:52705600-52714600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:52705600-52715000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:52705600-52715200	Strong transcription	Placenta	Placenta
29	chr3:52705600-52715800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:52705800-52715600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:52706000-52714200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr3:52706000-52714400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:52706000-52715000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:52706000-52716200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:52706000-52716200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:52706200-52714800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:52706200-52715800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:52706200-52715800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:52706400-52713200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:52706400-52713600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:52706400-52714000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:52706400-52714000	Weak transcription	Fetal Heart	heart
43	chr3:52706400-52714000	Strong transcription	Osteobl	bone
44	chr3:52706400-52714400	Strong transcription	HUVEC	blood vessel
45	chr3:52706400-52716000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:52707400-52715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:52707800-52713400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:52707800-52713600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:52707800-52714000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:52708200-52713600	Strong transcription	Muscle Satellite Cultured Cells	--

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