Variant report

Variant	rs368049984
Chromosome Location	chr12:123326461-123326462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123325084..123327709-chr12:123347219..123349157,2	MCF-7	breast:
2	chr12:123311285..123313219-chr12:123325523..123328002,2	MCF-7	breast:
3	chr12:123255502..123257176-chr12:123324408..123327320,2	MCF-7	breast:
4	chr12:123324513..123326875-chr12:123435236..123437199,2	MCF-7	breast:
5	chr12:123324539..123327696-chr12:123450573..123452120,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321600-123327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123321600-123332800	Weak transcription	Ovary	ovary
3	chr12:123321600-123333000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
5	chr12:123322000-123332400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:123322400-123329000	Weak transcription	Thymus	Thymus
7	chr12:123322600-123332600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:123322800-123327200	Enhancers	Liver	Liver
9	chr12:123322800-123329600	Weak transcription	Spleen	Spleen
10	chr12:123322800-123334000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:123322800-123334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:123322800-123339600	Weak transcription	Dnd41	blood
13	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:123323000-123326600	Weak transcription	K562	blood
15	chr12:123323000-123330400	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr12:123323200-123326800	Genic enhancers	NHEK	skin
17	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:123323600-123326600	Strong transcription	Primary T cells from cord blood	blood
21	chr12:123323600-123332400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:123323800-123326600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:123323800-123327600	Genic enhancers	Fetal Intestine Small	intestine
25	chr12:123323800-123329200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:123323800-123331000	Enhancers	Stomach Mucosa	stomach
27	chr12:123324000-123327400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:123324200-123326800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:123324200-123327200	Strong transcription	Primary B cells from cord blood	blood
30	chr12:123324400-123326600	Enhancers	NHLF	lung
31	chr12:123324400-123326800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:123324400-123328200	Enhancers	Lung	lung
33	chr12:123324400-123328400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:123324600-123326600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:123324600-123326600	Enhancers	Psoas Muscle	Psoas
36	chr12:123324600-123326800	Enhancers	Esophagus	oesophagus
37	chr12:123324600-123326800	Enhancers	NHDF-Ad	bronchial
38	chr12:123324600-123327400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:123324600-123327600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:123324600-123330400	Enhancers	Right Atrium	heart
41	chr12:123324600-123330600	Enhancers	Left Ventricle	heart
42	chr12:123324600-123330800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:123324800-123326600	Enhancers	A549	lung
46	chr12:123324800-123327600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:123324800-123327600	Enhancers	HUVEC	blood vessel
48	chr12:123324800-123332200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:123324800-123332200	Genic enhancers	Gastric	stomach
50	chr12:123324800-123332400	Weak transcription	Primary T cells fromperipheralblood	blood

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