Variant report

Variant	rs62284025
Chromosome Location	chr3:150316789-150316790
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	TBP	chr3:150316277-150316875	GM12878	blood:	n/a	n/a
2	MXI1	chr3:150316211-150316927	GM12878	blood:	n/a	n/a
3	RCOR1	chr3:150316351-150316931	GM12878	blood:	n/a	n/a
4	CHD1	chr3:150316297-150317049	GM12878	blood:	n/a	n/a
5	PML	chr3:150316132-150316983	GM12878	blood:	n/a	n/a
6	EP300	chr3:150316330-150316943	GM12878	blood:	n/a	chr3:150316393-150316407
7	BCLAF1	chr3:150316206-150316925	GM12878	blood:	n/a	n/a
8	E2F4	chr3:150316755-150316939	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:150316374-150316980	GM12878	blood:	n/a	n/a
10	EBF1	chr3:150316440-150316951	GM12878	blood:	n/a	chr3:150316693-150316704
11	POLR2A	chr3:150316727-150316855	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:150316259-150319258	GM12878	blood:	n/a	n/a
13	MTA3	chr3:150316205-150318380	GM12878	blood:	n/a	n/a
14	WRNIP1	chr3:150316282-150317151	GM12878	blood:	n/a	n/a
15	ZNF384	chr3:150316094-150316979	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:150316666-150317040	GM12892	blood:	n/a	n/a
17	EBF1	chr3:150316119-150317046	GM12878	blood:	n/a	chr3:150316693-150316704
18	CHD2	chr3:150316429-150316963	GM12878	blood:	n/a	n/a
19	IKZF1	chr3:150316394-150316894	GM12878	blood:	n/a	n/a
20	BHLHE40	chr3:150316303-150316835	GM12878	blood:	n/a	n/a
21	EBF1	chr3:150316418-150316889	GM12878	blood:	n/a	chr3:150316693-150316704
22	POLR2A	chr3:150316345-150317049	GM12878	blood:	n/a	n/a
23	POLR2A	chr3:150315973-150317993	GM12891	blood:	n/a	n/a
24	TBL1XR1	chr3:150316267-150316916	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:150316755-150316939	K562	blood:	n/a	n/a
26	POLR2A	chr3:150316310-150317106	Raji	blood:	n/a	n/a
27	POU2F2	chr3:150316240-150317025	GM12878	blood:	n/a	chr3:150316560-150316573
28	POLR2A	chr3:150316308-150317326	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:150316223-150317277	GM12878	blood:	n/a	n/a
30	STAT5A	chr3:150316667-150317118	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:150316658-150317272	GM12892	blood:	n/a	n/a
32	MEF2A	chr3:150316251-150316948	GM12878	blood:	n/a	n/a
33	RUNX3	chr3:150316185-150317228	GM12878	blood:	n/a	n/a
34	RELA	chr3:150316321-150317899	GM12891	blood:	n/a	n/a
35	MAX	chr3:150316265-150316909	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:150316339-150317094	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150316261..150319464-chr3:150319733..150322939,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198843	TF binding region
ENSG00000120742	Chromatin interaction
ENSG00000198843	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4681208	1.00[AFR][1000 genomes]
rs62269087	1.00[AFR][1000 genomes]
rs62269088	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62269099	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62269100	1.00[AFR][1000 genomes]
rs62269101	0.96[EUR][1000 genomes]
rs62269102	1.00[AFR][1000 genomes]
rs62283992	1.00[AFR][1000 genomes]
rs62283993	1.00[AFR][1000 genomes]
rs62283994	1.00[AFR][1000 genomes]
rs62284023	1.00[AFR][1000 genomes]
rs62284027	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6765721	0.84[EUR][1000 genomes]
rs6794400	1.00[AFR][1000 genomes]
rs73169829	1.00[AFR][1000 genomes]
rs73169833	1.00[AFR][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:150295600-150318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:150301600-150320200	Weak transcription	Small Intestine	intestine
5	chr3:150302400-150320000	Weak transcription	Brain Germinal Matrix	brain
6	chr3:150303400-150316800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:150303600-150317400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:150303600-150319200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:150303800-150316800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:150303800-150316800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:150303800-150316800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:150303800-150317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:150303800-150317400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:150303800-150318000	Weak transcription	NHLF	lung
15	chr3:150303800-150318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:150303800-150318800	Weak transcription	Fetal Lung	lung
17	chr3:150303800-150320000	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:150303800-150320000	Weak transcription	Fetal Brain Female	brain
19	chr3:150303800-150320000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:150303800-150320800	Weak transcription	Lung	lung
21	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
22	chr3:150304000-150316800	Weak transcription	Brain Anterior Caudate	brain
23	chr3:150304000-150320000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:150304000-150320000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:150304000-150320000	Weak transcription	Fetal Stomach	stomach
26	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:150304400-150317600	Weak transcription	HepG2	liver
28	chr3:150304400-150320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:150304400-150320200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:150304400-150320600	Weak transcription	Ovary	ovary
31	chr3:150304600-150318600	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:150304800-150320400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:150305000-150316800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:150305000-150317000	Weak transcription	Right Atrium	heart
35	chr3:150305000-150318400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:150305200-150317600	Weak transcription	A549	lung
37	chr3:150306200-150318000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:150306200-150320000	Weak transcription	Left Ventricle	heart
39	chr3:150306400-150316800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:150306400-150317200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:150306400-150318200	Weak transcription	Primary T cells from cord blood	blood
42	chr3:150306400-150319000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr3:150306600-150317000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:150306800-150316800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:150307200-150317800	Weak transcription	Dnd41	blood
46	chr3:150312800-150320000	Weak transcription	Fetal Intestine Small	intestine
47	chr3:150314000-150316800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:150314000-150318000	Weak transcription	Pancreas	Pancrea
49	chr3:150314800-150317800	Weak transcription	Psoas Muscle	Psoas
50	chr3:150315200-150317000	Enhancers	NHEK	skin

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