Variant report

Variant	rs532936569
Chromosome Location	chr12:123335015-123335016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
2	chr12:123319497..123321053-chr12:123333768..123335476,2	K562	blood:

Variant related genes	Relation type
ENSG00000130787	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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv560490	chr12:123326374-123346971	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv3441873	chr12:123333824-123336572	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3424840	chr12:123334149-123336322	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3323661	chr12:123334599-123335797	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3380344	chr12:123334845-123335599	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
2	chr12:123322800-123339600	Weak transcription	Dnd41	blood
3	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
11	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:123325200-123335400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:123326600-123335600	Weak transcription	NHLF	lung
14	chr12:123326600-123336800	Weak transcription	Psoas Muscle	Psoas
15	chr12:123326600-123345000	Weak transcription	A549	lung
16	chr12:123326800-123335400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:123327200-123337000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:123327200-123340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:123327200-123344200	Weak transcription	Hela-S3	cervix
20	chr12:123327400-123336400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:123327600-123335400	Weak transcription	HUVEC	blood vessel
23	chr12:123327600-123337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:123328200-123336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:123328400-123336200	Weak transcription	Placenta	Placenta
27	chr12:123329200-123335600	Weak transcription	Primary T cells from cord blood	blood
28	chr12:123329200-123337600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:123329400-123341800	Weak transcription	HepG2	liver
31	chr12:123329600-123336600	Strong transcription	Fetal Stomach	stomach
32	chr12:123329600-123344600	Strong transcription	Fetal Intestine Small	intestine
33	chr12:123330000-123335400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:123330000-123340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:123330400-123335400	Weak transcription	Right Atrium	heart
36	chr12:123330400-123344400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:123330800-123335400	Weak transcription	Fetal Brain Male	brain
39	chr12:123330800-123335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:123330800-123336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:123331000-123335400	Weak transcription	Stomach Mucosa	stomach
42	chr12:123331000-123335400	Weak transcription	HMEC	breast
43	chr12:123331000-123337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:123331000-123340800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:123331200-123336800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:123331400-123336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:123331600-123335400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:123331600-123335400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:123331600-123335600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:123332200-123336400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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