Variant report

Variant	rs538324474
Chromosome Location	chr12:123329620-123329621
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	chr12:123329055..123330600-chr12:123330820..123333817,2	MCF-7	breast:
2	chr12:123328262..123330774-chr12:123333932..123336446,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3370569	chr12:123328549-123331347	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321600-123332800	Weak transcription	Ovary	ovary
2	chr12:123321600-123333000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
4	chr12:123322000-123332400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:123322600-123332600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:123322800-123334000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:123322800-123334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:123322800-123339600	Weak transcription	Dnd41	blood
9	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:123323000-123330400	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:123323600-123332400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:123323800-123331000	Enhancers	Stomach Mucosa	stomach
17	chr12:123324600-123330400	Enhancers	Right Atrium	heart
18	chr12:123324600-123330600	Enhancers	Left Ventricle	heart
19	chr12:123324600-123330800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:123324800-123332200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:123324800-123332200	Genic enhancers	Gastric	stomach
24	chr12:123324800-123332400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
26	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:123325200-123329800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:123325200-123335400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:123325400-123331400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:123325400-123332600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr12:123325600-123330000	Weak transcription	Fetal Thymus	thymus
32	chr12:123325800-123329800	Weak transcription	Colonic Mucosa	Colon
33	chr12:123325800-123331000	Enhancers	Fetal Heart	heart
34	chr12:123325800-123332200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:123325800-123333000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:123326200-123331400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:123326600-123335600	Weak transcription	NHLF	lung
38	chr12:123326600-123336800	Weak transcription	Psoas Muscle	Psoas
39	chr12:123326600-123345000	Weak transcription	A549	lung
40	chr12:123326800-123331600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:123326800-123335400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:123327000-123332200	Weak transcription	Brain Germinal Matrix	brain
43	chr12:123327200-123331000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:123327200-123333000	Weak transcription	Liver	Liver
45	chr12:123327200-123333000	Enhancers	Brain Substantia Nigra	brain
46	chr12:123327200-123337000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:123327200-123340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:123327200-123344200	Weak transcription	Hela-S3	cervix
49	chr12:123327400-123336400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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