Variant report

Variant	rs148612032
Chromosome Location	chr3:51704510-51704511
allele	A/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	STAT3	chr3:51704453-51704513	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr3:51704446-51706405	SK-N-SH	brain:	n/a	chr3:51705117-51705132 chr3:51705119-51705134
3	RUNX3	chr3:51704265-51704643	GM12878	blood:	n/a	chr3:51704475-51704484 chr3:51704475-51704484
4	POLR2A	chr3:51704095-51706320	Hela-S3	cervix:	n/a	n/a
5	ZNF263	chr3:51704459-51706162	HEK293-T-REx	kidney:	n/a	chr3:51704522-51704531
6	MYC	chr3:51704483-51706154	MCF10A-Er-Src	breast:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
7	POLR2A	chr3:51704348-51706208	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:51704373-51706469	HepG2	liver:	n/a	n/a
9	CTCF	chr3:51704440-51704590	HPF	lung:	n/a	n/a
10	POLR2A	chr3:51704251-51706245	GM12878	blood:	n/a	n/a
11	MTA3	chr3:51704299-51706382	GM12878	blood:	n/a	n/a
12	STAT3	chr3:51704474-51704674	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:51704375-51706806	GM12891	blood:	n/a	n/a
14	STAT3	chr3:51704441-51704582	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr3:51703826-51706344	IMR90	lung:	n/a	chr3:51705117-51705132 chr3:51705119-51705134
16	POLR2A	chr3:51704419-51704646	MCF10A-Er-Src	breast:	n/a	n/a
17	HCFC1	chr3:51704425-51706373	Hela-S3	cervix:	n/a	n/a
18	STAT5A	chr3:51704370-51706159	GM12878	blood:	n/a	chr3:51704671-51704683 chr3:51704687-51704695 chr3:51704920-51704932

No.	Distal block	Cell Line	Cell type
1	chr3:51532457..51535099-chr3:51703667..51706623,4	MCF-7	breast:
2	chr3:51532560..51534895-chr3:51704003..51706915,3	K562	blood:
3	chr3:51703488..51706346-chr3:51714334..51716919,2	MCF-7	breast:
4	chr3:51704425..51707228-chr3:51714036..51717789,3	MCF-7	breast:
5	chr3:51704201..51711015-chr3:51712254..51717093,7	K562	blood:
6	chr3:51532096..51536424-chr3:51702408..51707498,7	K562	blood:
7	chr3:51702918..51706936-chr3:51707889..51711767,6	MCF-7	breast:

Variant related genes	Relation type
TEX264	TF binding region
ENSG00000164081	Chromatin interaction
ENSG00000145041	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv965167	chr3:51702892-51707059	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51694200-51704800	Weak transcription	Psoas Muscle	Psoas
2	chr3:51694400-51704600	Weak transcription	NHDF-Ad	bronchial
3	chr3:51697200-51704600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:51697400-51704600	Weak transcription	Left Ventricle	heart
5	chr3:51697400-51704800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:51697400-51704800	Weak transcription	Aorta	Aorta
7	chr3:51697800-51704600	Weak transcription	HSMM	muscle
8	chr3:51698000-51704800	Weak transcription	Ovary	ovary
9	chr3:51698200-51704600	Weak transcription	NH-A	brain
10	chr3:51698400-51704600	Weak transcription	HSMMtube	muscle
11	chr3:51700000-51704600	Weak transcription	Fetal Brain Female	brain
12	chr3:51700600-51704600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:51701200-51704600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:51701800-51704600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:51702000-51704600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:51702400-51704600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:51702400-51704600	Weak transcription	Fetal Stomach	stomach
18	chr3:51702800-51704600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:51702800-51704600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:51702800-51704600	Enhancers	Liver	Liver
21	chr3:51702800-51704600	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:51702800-51704600	Enhancers	Fetal Thymus	thymus
23	chr3:51702800-51704600	Enhancers	Stomach Mucosa	stomach
24	chr3:51702800-51704600	Enhancers	K562	blood
25	chr3:51702800-51704800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:51702800-51704800	Enhancers	Placenta	Placenta
27	chr3:51703000-51704600	Enhancers	Primary B cells from cord blood	blood
28	chr3:51703000-51704600	Enhancers	Primary B cells from peripheral blood	blood
29	chr3:51703000-51704600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:51703000-51704600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:51703000-51704600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:51703000-51704600	Enhancers	Colonic Mucosa	Colon
33	chr3:51703000-51704600	Enhancers	Esophagus	oesophagus
34	chr3:51703000-51704600	Weak transcription	Fetal Lung	lung
35	chr3:51703000-51704600	Enhancers	A549	lung
36	chr3:51703000-51704800	Enhancers	Fetal Muscle Leg	muscle
37	chr3:51703000-51704800	Enhancers	Pancreas	Pancrea
38	chr3:51703000-51704800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr3:51703000-51707800	Enhancers	Fetal Heart	heart
40	chr3:51703200-51704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:51703200-51704600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:51703200-51704600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:51703200-51704600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:51703200-51704600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:51703200-51704600	Enhancers	Fetal Intestine Small	intestine
46	chr3:51703200-51704800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr3:51703200-51704800	Genic enhancers	NHLF	lung
48	chr3:51703400-51704600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:51703400-51704600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:51703400-51704600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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