Variant report

Variant	rs188970716
Chromosome Location	chr12:104371365-104371366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104371062-104371382	K562	blood:	n/a	n/a
2	POLR2A	chr12:104371018-104371410	K562	blood:	n/a	n/a
3	POLR2A	chr12:104371076-104371388	K562	blood:	n/a	n/a
4	POLR2A	chr12:104371214-104372012	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:104370974-104371799	GM12891	blood:	n/a	n/a
6	POLR2A	chr12:104371123-104371377	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:104370907-104371414	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:104371117-104372395	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:104371008-104371549	K562	blood:	n/a	n/a
10	POLR2A	chr12:104370967-104371925	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:104371022-104371419	K562	blood:	n/a	n/a
12	POLR2A	chr12:104370997-104372789	GM12892	blood:	n/a	n/a
13	POLR2A	chr12:104370657-104372861	GM12892	blood:	n/a	n/a
14	POLR2A	chr12:104371012-104371552	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:104370975-104372773	GM12892	blood:	n/a	n/a
16	POLR2A	chr12:104371173-104371612	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:104371124-104371830	GM12891	blood:	n/a	n/a
18	POLR2A	chr12:104371093-104371704	GM12891	blood:	n/a	n/a
19	POLR2A	chr12:104371187-104371375	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104348589..104351037-chr12:104369776..104372245,2	MCF-7	breast:
2	chr12:104370024..104373447-chr12:104374664..104377599,4	K562	blood:

No data

Variant related genes	Relation type
TDG	TF binding region
ENSG00000204954	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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3336985	chr12:104370741-104373782	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
5	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:104362000-104373800	Weak transcription	Psoas Muscle	Psoas
8	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
9	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
11	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:104362400-104371400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
14	chr12:104363400-104371400	Weak transcription	Spleen	Spleen
15	chr12:104363800-104371400	Weak transcription	HMEC	breast
16	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:104364000-104372800	Strong transcription	Fetal Intestine Small	intestine
18	chr12:104364000-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:104364600-104383800	Strong transcription	Dnd41	blood
20	chr12:104366200-104376000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:104366800-104380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:104366800-104381600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:104367000-104377000	Strong transcription	Fetal Stomach	stomach
25	chr12:104367600-104381000	Strong transcription	GM12878-XiMat	blood
26	chr12:104368200-104373800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:104368200-104380600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:104368400-104373800	Weak transcription	NHEK	skin
29	chr12:104368800-104381000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr12:104368800-104381600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:104369200-104372200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:104369200-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:104369200-104381000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr12:104369200-104381000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:104369400-104376400	Weak transcription	Fetal Heart	heart
37	chr12:104369400-104380800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:104369400-104381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:104369400-104381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:104369600-104381600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:104369800-104378000	Strong transcription	Primary T cells from cord blood	blood
42	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:104370000-104379600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:104370000-104381600	Strong transcription	Fetal Thymus	thymus
45	chr12:104370200-104376200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:104370200-104381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:104370200-104381000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:104370200-104381000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:104370400-104379800	Strong transcription	K562	blood

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