Variant report

Variant	rs62263011
Chromosome Location	chr3:50658211-50658212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50655300..50656940-chr3:50657923..50659594,2	K562	blood:
2	chr3:50653782..50656191-chr3:50656485..50658551,3	MCF-7	breast:
3	chr3:50656743..50658833-chr3:50659825..50662779,2	K562	blood:
4	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
5	chr3:50658169..50660186-chr3:50671108..50673991,2	MCF-7	breast:
6	chr3:50571719..50574325-chr3:50657632..50660036,2	K562	blood:
7	chr3:50653327..50655047-chr3:50656472..50658278,2	K562	blood:

Variant related genes	Relation type
ENSG00000114738	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000088543	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11914934	0.83[EUR][1000 genomes]
rs11927030	1.00[AMR][1000 genomes]
rs62258667	0.83[EUR][1000 genomes]
rs62260128	0.90[EUR][1000 genomes]
rs62260813	1.00[AFR][1000 genomes]
rs62260817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50654800-50658800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:50655000-50658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:50655000-50658800	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr3:50655000-50659400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:50655200-50658800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr3:50655200-50659000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr3:50655400-50677800	Weak transcription	Aorta	Aorta
8	chr3:50655600-50681200	Weak transcription	Fetal Brain Female	brain
9	chr3:50655800-50658600	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:50655800-50658600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:50655800-50658800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:50655800-50659400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:50655800-50659800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:50655800-50661000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:50655800-50661400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:50655800-50661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:50655800-50661400	Weak transcription	Fetal Brain Male	brain
18	chr3:50655800-50661400	Weak transcription	NHLF	lung
19	chr3:50655800-50661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:50655800-50661600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:50655800-50661600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:50655800-50661600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:50655800-50661800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:50655800-50661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:50655800-50662000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:50655800-50662000	Weak transcription	Fetal Lung	lung
27	chr3:50655800-50662200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:50655800-50665000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:50655800-50665000	Weak transcription	Brain Angular Gyrus	brain
30	chr3:50655800-50666000	Enhancers	Fetal Heart	heart
31	chr3:50656000-50658400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:50656000-50658600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr3:50656000-50658800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr3:50656000-50658800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:50656000-50659200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr3:50656000-50661200	Weak transcription	Small Intestine	intestine
37	chr3:50656000-50661400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:50656000-50675600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:50656000-50677800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:50656200-50658800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:50656200-50660200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:50656200-50661400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:50656400-50658400	Enhancers	Brain Hippocampus Middle	brain
44	chr3:50656400-50658400	Enhancers	Gastric	stomach
45	chr3:50656400-50658400	Enhancers	Spleen	Spleen
46	chr3:50656600-50658400	Genic enhancers	Fetal Stomach	stomach
47	chr3:50656600-50658400	Enhancers	Right Atrium	heart
48	chr3:50656600-50658800	Enhancers	NHDF-Ad	bronchial
49	chr3:50656800-50658400	Enhancers	Colonic Mucosa	Colon
50	chr3:50656800-50658400	Enhancers	Rectal Mucosa Donor 31	rectum

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