Variant report

Variant	rs72932994
Chromosome Location	chr3:50383557-50383558
allele	A/T
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	chr3:50382975-50383605	SK-N-MC	brain:	n/a	n/a
2	SIN3A	chr3:50382893-50383577	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:50383353-50383977	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:50382939-50383602	U87	brain:	n/a	n/a
5	MAZ	chr3:50382704-50383586	IMR90	lung:	n/a	chr3:50383149-50383158
6	POLR2A	chr3:50383006-50383577	MCF-7	breast:	n/a	n/a
7	MAX	chr3:50382994-50383557	H1-hESC	embryonic stem cell:	n/a	chr3:50383149-50383158
8	MTA3	chr3:50383102-50383637	GM12878	blood:	n/a	n/a
9	ZNF263	chr3:50383241-50383597	HEK293-T-REx	kidney:	n/a	chr3:50383448-50383457 chr3:50383431-50383452
10	HA-E2F1	chr3:50382898-50383609	MCF-7	breast:	n/a	chr3:50383168-50383177 chr3:50383165-50383175

No.	Distal block	Cell Line	Cell type
1	chr3:50383426..50385588-chr3:50395187..50397188,2	MCF-7	breast:
2	chr3:50357006..50359780-chr3:50383259..50385095,2	MCF-7	breast:
3	chr3:50364515..50367018-chr3:50382210..50385034,2	MCF-7	breast:
4	chr3:50381829..50384513-chr3:50648626..50650726,2	MCF-7	breast:
5	chr3:50357891..50360438-chr3:50381704..50384677,2	MCF-7	breast:
6	chr3:50371739..50377775-chr3:50378206..50384768,10	MCF-7	breast:

Variant related genes	Relation type
CYB561D2	TF binding region
ENSG00000272104	TF binding region
ZMYND10	TF binding region
ENSG00000114738	Chromatin interaction
ENSG00000126062	Chromatin interaction
ENSG00000114383	Chromatin interaction
ENSG00000114737	Chromatin interaction
ENSG00000068001	Chromatin interaction
ENSG00000068028	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17050913	1.00[AMR][1000 genomes]
rs17050922	1.00[AMR][1000 genomes]
rs17050967	0.84[AFR][1000 genomes]
rs17050976	0.82[AFR][1000 genomes]
rs58124375	1.00[AMR][1000 genomes]
rs58407586	1.00[AMR][1000 genomes]
rs58780990	0.83[AFR][1000 genomes]
rs59112948	1.00[AMR][1000 genomes]
rs59336516	1.00[AMR][1000 genomes]
rs59896933	1.00[AMR][1000 genomes]
rs60564525	1.00[AMR][1000 genomes]
rs61638172	1.00[AMR][1000 genomes]
rs72931482	1.00[AMR][1000 genomes]
rs72932915	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932918	1.00[AMR][1000 genomes]
rs72932925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932966	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934803	0.83[AFR][1000 genomes]
rs72934806	0.83[AFR][1000 genomes]
rs72934811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934814	0.83[AFR][1000 genomes]
rs72934815	0.83[AFR][1000 genomes]
rs72934824	0.81[AFR][1000 genomes]
rs72936957	0.82[AFR][1000 genomes]
rs72936959	0.82[AFR][1000 genomes]
rs72936962	0.82[AFR][1000 genomes]
rs72936964	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936972	0.82[AFR][1000 genomes]
rs72936978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936980	0.82[AFR][1000 genomes]
rs72938724	1.00[AMR][1000 genomes]
rs72938734	1.00[AMR][1000 genomes]
rs72938735	1.00[AMR][1000 genomes]
rs72938738	1.00[AMR][1000 genomes]
rs72938740	1.00[AMR][1000 genomes]
rs72938750	1.00[AMR][1000 genomes]
rs72940706	1.00[AMR][1000 genomes]
rs7611074	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50378600-50384800	Weak transcription	Dnd41	blood
2	chr3:50379000-50386800	Weak transcription	Small Intestine	intestine
3	chr3:50380200-50384200	Weak transcription	Hela-S3	cervix
4	chr3:50382400-50383600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr3:50382400-50383600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:50382600-50383600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr3:50382600-50383600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:50382600-50383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:50382600-50383600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr3:50382600-50383600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:50382600-50383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:50382600-50383600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:50382600-50383600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:50382600-50383600	Enhancers	Liver	Liver
15	chr3:50382600-50383600	Flanking Active TSS	Colonic Mucosa	Colon
16	chr3:50382600-50383600	Enhancers	Lung	lung
17	chr3:50382600-50383600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr3:50382600-50383600	Flanking Active TSS	Right Ventricle	heart
19	chr3:50382600-50383600	Flanking Active TSS	NHLF	lung
20	chr3:50382600-50383600	Flanking Active TSS	Osteobl	bone
21	chr3:50382600-50383800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr3:50382600-50383800	Enhancers	Spleen	Spleen
23	chr3:50382600-50384000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr3:50382600-50385200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:50382800-50383600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:50382800-50383600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:50382800-50383600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr3:50382800-50383600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:50382800-50383600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr3:50382800-50383600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr3:50382800-50383600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr3:50382800-50383600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr3:50382800-50383600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr3:50382800-50383600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:50382800-50383600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr3:50382800-50383600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:50382800-50383600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr3:50382800-50383600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:50382800-50383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:50382800-50383600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr3:50382800-50383600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr3:50382800-50383600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:50382800-50383600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:50382800-50383600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:50382800-50383600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:50382800-50383600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr3:50382800-50383600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr3:50382800-50383600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr3:50382800-50383600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr3:50382800-50383600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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