Variant report

Variant	rs371265313
Chromosome Location	chr12:64174628-64174629
allele	A/C
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	chr12:64173169-64175918	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr12:64173026-64174635	A549	lung:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
3	MXI1	chr12:64173278-64174722	GM12878	blood:	n/a	n/a
4	MYC	chr12:64173966-64174922	MCF10A-Er-Src	breast:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64174162-64174169
5	MXI1	chr12:64173334-64174691	K562	blood:	n/a	n/a
6	MXI1	chr12:64173263-64174758	IMR90	lung:	n/a	n/a
7	MYC	chr12:64173550-64174645	MCF10A-Er-Src	breast:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64174162-64174169
8	HCFC1	chr12:64173101-64174785	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr12:64172589-64175771	SK-N-SH	brain:	n/a	n/a
10	MAFK	chr12:64174488-64174635	HepG2	liver:	n/a	chr12:64174621-64174632 chr12:64174620-64174634 chr12:64174622-64174633 chr12:64174622-64174633 chr12:64174621-64174632

No.	Distal block	Cell Line	Cell type
1	chr12:64172533..64176121-chr12:64194832..64198679,5	K562	blood:
2	chr12:64174103..64174726-chr5:180650314..180651063,2	Hela-S3	cervix:
3	chr12:64172395..64175865-chr12:64176316..64181928,12	K562	blood:
4	chr12:64172631..64179011-chr12:64187703..64190145,6	MCF-7	breast:
5	chr12:64172589..64175160-chr12:64189373..64193026,5	MCF-7	breast:
6	chr12:64173978..64177817-chr12:64182120..64184728,4	K562	blood:
7	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:

Variant related genes	Relation type
TMEM5	TF binding region
ENSG00000196935	Chromatin interaction
ENSG00000118600	Chromatin interaction
ENSG00000249753	Chromatin interaction
ENSG00000146063	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv430514	chr12:63939733-64183598	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3449572	chr12:64174108-64174892	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv3523514	chr12:64174149-64174848	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3523515	chr12:64174149-64174848	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv3488086	chr12:64174181-64174924	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3488097	chr12:64174181-64174924	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64172800-64175200	Active TSS	K562	blood
2	chr12:64173000-64174800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:64173000-64174800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:64173000-64174800	Active TSS	GM12878-XiMat	blood
5	chr12:64173000-64174800	Active TSS	NHDF-Ad	bronchial
6	chr12:64173000-64175000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:64173000-64175000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:64173000-64175000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:64173000-64175000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:64173200-64174800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:64173200-64174800	Active TSS	Duodenum Mucosa	Duodenum
12	chr12:64173200-64175000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:64173200-64175000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:64173200-64175000	Active TSS	NHLF	lung
15	chr12:64173200-64175200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:64173200-64175200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:64173200-64175600	Active TSS	Ovary	ovary
18	chr12:64173400-64174800	Active TSS	HepG2	liver
19	chr12:64173400-64174800	Active TSS	NHEK	skin
20	chr12:64173600-64175200	Active TSS	HMEC	breast
21	chr12:64174000-64174800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr12:64174000-64174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:64174000-64174800	Active TSS	Brain Germinal Matrix	brain
24	chr12:64174000-64175000	Flanking Active TSS	HUVEC	blood vessel
25	chr12:64174200-64174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:64174200-64174800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:64174200-64174800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:64174200-64174800	Flanking Active TSS	Liver	Liver
29	chr12:64174200-64175000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:64174200-64175000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:64174200-64175200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:64174200-64175400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:64174200-64175400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:64174400-64174800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:64174400-64174800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:64174400-64174800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr12:64174400-64174800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr12:64174400-64174800	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr12:64174400-64175000	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:64174400-64175000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr12:64174400-64175000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr12:64174400-64175200	Weak transcription	Placenta	Placenta
43	chr12:64174400-64176000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:64174400-64176000	Weak transcription	Left Ventricle	heart
45	chr12:64174400-64176200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:64174400-64176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:64174400-64177200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:64174400-64180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:64174400-64180600	Weak transcription	Gastric	stomach
50	chr12:64174400-64184000	Weak transcription	Esophagus	oesophagus

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