Variant report

Variant	rs573966547
Chromosome Location	chr12:123994372-123994373
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123991512..123994441-chr12:124007477..124009377,2	MCF-7	breast:
2	chr12:123991748..123994881-chr12:124017334..124019391,3	MCF-7	breast:
3	chr12:123990733..123992754-chr12:123992876..123995822,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS 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	63 gene(s)	inside rSNPs	diseases
3	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv3325641	chr12:123993699-123998197	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3413875	chr12:123993699-123998797	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3409514	chr12:123993999-123999997	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
4	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
5	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:123957600-123995400	Weak transcription	Pancreas	Pancrea
8	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:123960000-123995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:123961600-123995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:123968800-123995400	Weak transcription	NH-A	brain
12	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:123973600-123995400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:123974600-123995400	Weak transcription	Dnd41	blood
15	chr12:123979600-123994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:123979600-124000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:123980800-123995400	Weak transcription	Primary T cells from cord blood	blood
18	chr12:123981800-123995400	Weak transcription	NHLF	lung
19	chr12:123981800-124004000	Weak transcription	Psoas Muscle	Psoas
20	chr12:123982600-123994800	Weak transcription	K562	blood
21	chr12:123982600-124001200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:123983000-123994600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:123983000-123995200	Weak transcription	Fetal Kidney	kidney
24	chr12:123983000-123995400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:123983200-123994400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:123983400-123994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:123983400-123994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:123983400-123995400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:123983400-123997200	Weak transcription	Liver	Liver
30	chr12:123983600-123995600	Weak transcription	NHDF-Ad	bronchial
31	chr12:123984000-123994400	Weak transcription	Ovary	ovary
32	chr12:123984000-123995400	Weak transcription	HSMM	muscle
33	chr12:123984000-123995600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:123984200-123994400	Weak transcription	Fetal Intestine Large	intestine
35	chr12:123984200-123995200	Weak transcription	Gastric	stomach
36	chr12:123984400-123994800	Weak transcription	HepG2	liver
37	chr12:123987400-123995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:123989200-123994800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:123991400-123994400	Weak transcription	Right Ventricle	heart
40	chr12:123991400-123994800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:123991600-123995200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:123991600-123995400	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:123991800-123994400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:123991800-123994800	Weak transcription	Fetal Lung	lung
45	chr12:123991800-123995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:123991800-123995400	Weak transcription	Aorta	Aorta
47	chr12:123991800-123995400	Weak transcription	HSMMtube	muscle
48	chr12:123991800-123995600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:123992000-123994400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:123992000-123994800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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