Variant report

Variant	rs376449780
Chromosome Location	chr12:56525123-56525124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56524655-56525553	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56518356..56534331-chr12:56534720..56548698,49	MCF-7	breast:
2	chr12:56507991..56525761-chr12:56579808..56586137,68	MCF-7	breast:
3	chr12:56518236..56525779-chr12:56581707..56584752,14	MCF-7	breast:
4	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
5	chr12:56524733..56527409-chr12:56558482..56560316,2	MCF-7	breast:
6	chr12:56516279..56526040-chr12:56550254..56554953,37	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258317	TF binding region
ENSG00000258199	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000092841	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription 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 target site	189 gene(s)	inside rSNPs	diseases
3	esv10159	chr12:56524824-56527928	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56523200-56533400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56523600-56525200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:56523600-56526200	Weak transcription	Psoas Muscle	Psoas
4	chr12:56523600-56527000	Weak transcription	Small Intestine	intestine
5	chr12:56523600-56537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:56523800-56525800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:56523800-56527400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:56523800-56537000	Weak transcription	Right Atrium	heart
9	chr12:56523800-56539400	Strong transcription	NHEK	skin
10	chr12:56524000-56525200	Genic enhancers	Fetal Thymus	thymus
11	chr12:56524000-56525400	Genic enhancers	Placenta	Placenta
12	chr12:56524000-56525800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:56524000-56526600	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr12:56524000-56528800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:56524000-56537000	Strong transcription	Fetal Intestine Small	intestine
16	chr12:56524200-56525200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:56524200-56525200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:56524200-56525800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:56524200-56525800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:56524200-56526400	Genic enhancers	Primary B cells from cord blood	blood
21	chr12:56524200-56526400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:56524200-56528000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:56524200-56528200	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr12:56524200-56528200	Strong transcription	Brain Anterior Caudate	brain
25	chr12:56524200-56528200	Strong transcription	Left Ventricle	heart
26	chr12:56524200-56528400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:56524200-56528400	Strong transcription	HUVEC	blood vessel
28	chr12:56524200-56529200	Strong transcription	Brain Hippocampus Middle	brain
29	chr12:56524200-56539200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:56524200-56539200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:56524200-56539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:56524200-56539400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:56524200-56539400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:56524200-56539400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:56524200-56539400	Strong transcription	NH-A	brain
36	chr12:56524400-56525200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
37	chr12:56524400-56525400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:56524400-56525400	ZNF genes & repeats	Dnd41	blood
39	chr12:56524400-56526600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:56524400-56527800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:56524400-56528000	Strong transcription	A549	lung
42	chr12:56524400-56528200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:56524400-56528200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:56524400-56528200	Strong transcription	Aorta	Aorta
45	chr12:56524400-56528200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:56524400-56528200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:56524400-56528200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:56524400-56528200	Strong transcription	Esophagus	oesophagus
49	chr12:56524400-56528200	Strong transcription	Fetal Kidney	kidney
50	chr12:56524400-56528400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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