Variant report

Variant	rs3762712
Chromosome Location	chr3:51421367-51421368
allele	C/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	chr3:51419174-51424458	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:51421366-51423651	U87	brain:	n/a	n/a
3	POLR2A	chr3:51421184-51422932	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr3:51421235-51421603	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:51421356-51424600	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr3:51420469-51426170	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:51420512-51424288	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:51418535-51424565	K562	blood:	n/a	n/a
9	POLR2A	chr3:51420188-51423838	MCF10A-Er-Src	breast:	n/a	n/a
10	HCFC1	chr3:51421232-51423045	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50646919..50649117-chr3:51419944..51422467,2	MCF-7	breast:
2	chr3:51420258..51423192-chr3:51532829..51535179,2	K562	blood:

Variant related genes	Relation type
MANF	TF binding region
ENSG00000114738	Chromatin interaction
ENSG00000145041	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10446472	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51378800-51421400	Weak transcription	Right Ventricle	heart
2	chr3:51406000-51421400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:51406400-51421600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:51410000-51421400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:51414800-51421400	Weak transcription	HSMMtube	muscle
6	chr3:51417200-51421400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:51417600-51421400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:51417600-51421600	Weak transcription	Spleen	Spleen
9	chr3:51418000-51421400	Weak transcription	Thymus	Thymus
10	chr3:51418400-51421400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:51419600-51421400	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:51419600-51421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:51420000-51421400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:51420000-51421400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:51420400-51421400	Enhancers	Brain Germinal Matrix	brain
16	chr3:51420600-51421400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:51420600-51421400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:51420600-51421600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:51420600-51421600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr3:51420600-51421800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:51420800-51421400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr3:51420800-51421400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr3:51420800-51421400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr3:51420800-51421400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:51420800-51421400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:51420800-51421400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:51420800-51421400	Enhancers	Brain Anterior Caudate	brain
28	chr3:51420800-51421400	Enhancers	Brain Substantia Nigra	brain
29	chr3:51420800-51421400	Enhancers	Fetal Intestine Small	intestine
30	chr3:51420800-51421400	Enhancers	Fetal Lung	lung
31	chr3:51420800-51421400	Enhancers	Fetal Thymus	thymus
32	chr3:51420800-51421400	Enhancers	Stomach Mucosa	stomach
33	chr3:51420800-51421400	Enhancers	Stomach Smooth Muscle	stomach
34	chr3:51420800-51421400	Enhancers	Hela-S3	cervix
35	chr3:51420800-51421600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:51420800-51421600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:51420800-51421600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:51420800-51421600	Enhancers	Primary B cells from peripheral blood	blood
39	chr3:51420800-51421600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:51420800-51421600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr3:51420800-51421800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr3:51420800-51421800	Flanking Active TSS	Dnd41	blood
43	chr3:51420800-51422000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:51420800-51422000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:51420800-51423400	Active TSS	NHDF-Ad	bronchial
46	chr3:51420800-51423600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:51421000-51421400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr3:51421000-51421400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:51421000-51421400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:51421000-51421400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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