Variant report

Variant	rs184219578
Chromosome Location	chr12:120578774-120578775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120578568-120579743	K562	blood:	n/a	n/a
2	POLR2A	chr12:120578420-120578880	K562	blood:	n/a	n/a
3	POLR2A	chr12:120578318-120578905	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:120578656-120578782	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:120578202-120579131	K562	blood:	n/a	n/a
6	POLR2A	chr12:120577897-120578975	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120577345..120580147-chr12:120592811..120595731,2	K562	blood:
2	chr12:120576335..120579124-chr12:120728555..120730059,2	MCF-7	breast:
3	chr12:120577301..120580617-chr12:120600923..120603365,3	K562	blood:
4	chr12:120578342..120580518-chr12:120725654..120728594,2	MCF-7	breast:
5	chr12:120577537..120579959-chr12:120630858..120632870,2	MCF-7	breast:
6	chr12:120577095..120579573-chr12:120622728..120624803,2	K562	blood:
7	chr12:120576167..120578821-chr12:120637302..120640400,3	K562	blood:
8	chr12:120553303..120556316-chr12:120578604..120582371,4	MCF-7	breast:
9	chr12:120578652..120580296-chr12:120582169..120584083,2	K562	blood:

No data

Variant related genes	Relation type
GCN1L1	TF binding region
ENSG00000255857	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000266704	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active 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	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv976760	chr12:120577931-120587880	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120563000-120580200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:120563000-120580200	Strong transcription	A549	lung
3	chr12:120563000-120588000	Strong transcription	HSMM	muscle
4	chr12:120563000-120596800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr12:120563000-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:120563000-120629800	Strong transcription	Fetal Stomach	stomach
7	chr12:120563000-120630200	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:120563200-120602800	Strong transcription	Brain Germinal Matrix	brain
9	chr12:120563200-120630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120563400-120616200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:120563400-120629200	Strong transcription	Fetal Intestine Small	intestine
12	chr12:120563400-120630200	Strong transcription	Fetal Thymus	thymus
13	chr12:120563600-120580400	Strong transcription	Pancreas	Pancrea
14	chr12:120563600-120583600	Strong transcription	Fetal Brain Female	brain
15	chr12:120563600-120596400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:120563600-120602400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:120563600-120603600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:120563600-120603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:120563600-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:120563600-120626000	Strong transcription	Brain Cingulate Gyrus	brain
21	chr12:120563600-120626200	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr12:120563600-120629000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:120563600-120630200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:120563600-120630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:120563600-120630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:120563600-120630200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:120563600-120630200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:120563800-120581000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:120563800-120582600	Strong transcription	Liver	Liver
30	chr12:120563800-120602600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:120563800-120602600	Strong transcription	Primary T cells from cord blood	blood
32	chr12:120563800-120602600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr12:120563800-120602800	Strong transcription	Dnd41	blood
34	chr12:120563800-120603600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:120563800-120629800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr12:120563800-120630000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:120563800-120630200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:120564000-120580800	Strong transcription	HMEC	breast
39	chr12:120564000-120581200	Strong transcription	NHEK	skin
40	chr12:120564000-120583400	Strong transcription	Hela-S3	cervix
41	chr12:120564000-120603600	Strong transcription	Brain Angular Gyrus	brain
42	chr12:120564000-120603800	Strong transcription	Thymus	Thymus
43	chr12:120564200-120594200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:120564200-120624400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:120564200-120629600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:120564400-120579200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:120564400-120597000	Strong transcription	HepG2	liver
48	chr12:120564400-120602600	Strong transcription	Brain Hippocampus Middle	brain
49	chr12:120564400-120602600	Strong transcription	Placenta	Placenta
50	chr12:120564400-120602600	Strong transcription	HSMMtube	muscle

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