Variant report

Variant	rs72932983
Chromosome Location	chr3:50363023-50363024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr3:50362901-50363368	HL-60	blood:	n/a	n/a
2	SPI1	chr3:50362899-50363326	HL-60	blood:	n/a	n/a
3	POLR2A	chr3:50362644-50363129	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50262519..50266159-chr3:50361787..50365094,4	MCF-7	breast:
2	chr3:50325763..50328183-chr3:50362285..50365092,2	K562	blood:
3	chr3:50336893..50339632-chr3:50360083..50363669,3	MCF-7	breast:
4	chr3:50300460..50314689-chr3:50349154..50363682,34	MCF-7	breast:
5	chr3:50334885..50342502-chr3:50352987..50366859,26	K562	blood:
6	chr3:50335131..50340487-chr3:50360694..50367461,13	K562	blood:
7	chr3:50307238..50313479-chr3:50353130..50365794,18	MCF-7	breast:
8	chr3:50328776..50330716-chr3:50362802..50365123,2	MCF-7	breast:
9	chr3:50309725..50313756-chr3:50357883..50363910,8	K562	blood:
10	chr3:50362845..50365176-chr3:50396272..50399020,2	MCF-7	breast:

No data

Variant related genes	Relation type
HYAL2	TF binding region
ENSG00000186792	Chromatin interaction
ENSG00000214706	Chromatin interaction
ENSG00000126062	Chromatin interaction
ENSG00000114378	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000232352	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12490837	0.94[AFR][1000 genomes]
rs2229647	0.97[AFR][1000 genomes]
rs2233476	0.91[AFR][1000 genomes]
rs2233482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2236946	0.83[AFR][1000 genomes]
rs35587949	0.89[AFR][1000 genomes]
rs4688679	0.91[AFR][1000 genomes]
rs4688728	0.89[AFR][1000 genomes]
rs4688736	0.97[AFR][1000 genomes]
rs58780990	1.00[AMR][1000 genomes]
rs59476380	0.86[AFR][1000 genomes]
rs59556423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60983897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61275090	1.00[AMR][1000 genomes]
rs61689858	1.00[AMR][1000 genomes]
rs61737738	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932956	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934803	1.00[AMR][1000 genomes]
rs72934806	1.00[AMR][1000 genomes]
rs72934814	1.00[AMR][1000 genomes]
rs72934815	1.00[AMR][1000 genomes]
rs72934824	1.00[AMR][1000 genomes]
rs72934827	1.00[AMR][1000 genomes]
rs72934830	1.00[AMR][1000 genomes]
rs928946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	esv2757870	chr3:50198478-50371377	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
10	esv2759148	chr3:50198478-50371377	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
12	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
13	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
14	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
15	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
16	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
17	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
18	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
19	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
20	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
21	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50359600-50364200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:50359600-50364400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:50359600-50364600	Weak transcription	Small Intestine	intestine
4	chr3:50359800-50364000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:50359800-50364400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:50359800-50364400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:50359800-50364400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:50359800-50364600	Weak transcription	Aorta	Aorta
9	chr3:50359800-50364800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:50359800-50364800	Enhancers	Primary B cells from cord blood	blood
11	chr3:50360000-50364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:50360000-50364400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:50360000-50364400	Weak transcription	GM12878-XiMat	blood
14	chr3:50360200-50364400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:50360200-50364600	Weak transcription	NHDF-Ad	bronchial
16	chr3:50360400-50363200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:50360400-50364400	Weak transcription	Fetal Brain Male	brain
18	chr3:50360400-50364400	Weak transcription	Psoas Muscle	Psoas
19	chr3:50360600-50364800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:50360600-50364800	Weak transcription	Fetal Kidney	kidney
21	chr3:50361000-50363200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:50361000-50363800	Strong transcription	Brain Germinal Matrix	brain
23	chr3:50361000-50364200	Strong transcription	Fetal Brain Female	brain
24	chr3:50361200-50363200	Strong transcription	Dnd41	blood
25	chr3:50361200-50364000	Strong transcription	Thymus	Thymus
26	chr3:50361200-50364200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:50361400-50364400	Genic enhancers	Fetal Intestine Large	intestine
28	chr3:50361400-50364600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:50361600-50363400	Genic enhancers	Fetal Thymus	thymus
30	chr3:50361600-50363800	Strong transcription	Gastric	stomach
31	chr3:50361600-50363800	Strong transcription	HSMM	muscle
32	chr3:50361600-50363800	Strong transcription	NHEK	skin
33	chr3:50361600-50364000	Genic enhancers	Placenta	Placenta
34	chr3:50361600-50364200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:50361600-50364800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:50361800-50364000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:50361800-50364000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:50361800-50364400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:50361800-50364400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:50361800-50364400	Weak transcription	Fetal Heart	heart
41	chr3:50362000-50363200	Weak transcription	Colonic Mucosa	Colon
42	chr3:50362000-50363400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:50362000-50363400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr3:50362000-50363800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:50362000-50364000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:50362000-50364000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:50362000-50364200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:50362000-50364400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:50362000-50364400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:50362000-50364400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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