Variant report

Variant	rs143037002
Chromosome Location	chr12:57904903-57904904
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	chr12:57904506-57914962	K562	blood:	n/a	n/a
2	POLR2A	chr12:57904889-57907759	U87	brain:	n/a	n/a
3	POLR2A	chr12:57904883-57907734	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57896988..57898909-chr12:57904285..57905938,2	MCF-7	breast:
2	chr12:57896366..57901111-chr12:57901647..57907518,8	K562	blood:
3	chr12:57881369..57883611-chr12:57902104..57905410,4	MCF-7	breast:

Variant related genes	Relation type
RN7SL312P	TF binding region
MARS	TF binding region
ENSG00000166986	Chromatin interaction
ENSG00000123329	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer 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	96 gene(s)	inside rSNPs	diseases
4	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers 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	89 gene(s)	inside rSNPs	diseases
8	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
9	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	126 gene(s)	inside rSNPs	diseases
14	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
15	esv3419248	chr12:57904485-57908083	Strong transcription Weak transcription	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57882800-57905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:57883000-57910600	Weak transcription	Right Atrium	heart
3	chr12:57883200-57911200	Strong transcription	Fetal Intestine Small	intestine
4	chr12:57885600-57911200	Weak transcription	Fetal Heart	heart
5	chr12:57888600-57912200	Strong transcription	Fetal Stomach	stomach
6	chr12:57892800-57908600	Weak transcription	Stomach Mucosa	stomach
7	chr12:57896200-57905400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:57896200-57905600	Weak transcription	NHDF-Ad	bronchial
9	chr12:57899000-57905200	Weak transcription	NHLF	lung
10	chr12:57899200-57905000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:57899600-57906400	Weak transcription	Small Intestine	intestine
12	chr12:57900000-57905000	Weak transcription	Gastric	stomach
13	chr12:57900000-57905200	Weak transcription	Colonic Mucosa	Colon
14	chr12:57900200-57905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:57900200-57905600	Weak transcription	Esophagus	oesophagus
16	chr12:57900400-57905000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:57900400-57905400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:57900400-57905400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:57900400-57905400	Weak transcription	Ovary	ovary
20	chr12:57900400-57905600	Weak transcription	Fetal Brain Male	brain
21	chr12:57900600-57905000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:57900600-57905000	Weak transcription	Left Ventricle	heart
23	chr12:57900600-57905000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:57900600-57905000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:57900600-57905200	Weak transcription	Brain Angular Gyrus	brain
26	chr12:57900600-57905200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:57900600-57905200	Weak transcription	Fetal Kidney	kidney
28	chr12:57900600-57905400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:57900600-57905800	Weak transcription	Psoas Muscle	Psoas
30	chr12:57900600-57912000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:57900600-57912800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:57901600-57910600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:57901600-57911000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:57901600-57911800	Strong transcription	Lung	lung
35	chr12:57901800-57906800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:57901800-57911600	Strong transcription	Thymus	Thymus
37	chr12:57901800-57911800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:57901800-57911800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:57902000-57912400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:57902200-57909800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:57902200-57910000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:57902200-57910600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:57902200-57911600	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:57902200-57912000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:57902200-57912000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:57902200-57912400	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr12:57902400-57910400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:57902400-57910800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:57902400-57910800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:57902400-57911000	Strong transcription	Duodenum Mucosa	Duodenum

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