Variant report

Variant	rs371562246
Chromosome Location	chr12:120880734-120880735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120880391-120880986	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:120880459-120880761	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:120880337-120880736	K562	blood:	n/a	n/a
4	POLR2A	chr12:120880499-120881336	K562	blood:	n/a	n/a
5	POLR2A	chr12:120880384-120881396	GM12892	blood:	n/a	n/a
6	POLR2A	chr12:120880338-120884699	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr12:120880460-120881395	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:120880536-120881004	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:120880507-120881362	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:120880564-120880799	HCT-116	colon:	n/a	n/a
11	POLR2A	chr12:120880378-120881281	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr12:120880480-120881636	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:120880616-120881402	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:120880725-120881182	GM12891	blood:	n/a	n/a
15	POLR2A	chr12:120880216-120881309	PFSK-1	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120728088..120729982-chr12:120880353..120882117,2	K562	blood:
2	chr12:120879804..120882085-chr12:120900465..120903221,2	K562	blood:
3	chr12:120880538..120882085-chr12:120906058..120908502,2	MCF-7	breast:
4	chr12:120728284..120732232-chr12:120880260..120886911,13	MCF-7	breast:
5	chr12:120769968..120772533-chr12:120880637..120882245,2	MCF-7	breast:
6	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:
7	chr12:120836022..120837604-chr12:120880612..120883429,2	MCF-7	breast:

No data

Variant related genes	Relation type
GATC	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000111786	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv819389	chr12:120880098-120882476	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	11 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	chr12:120876400-120883400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120876800-120881800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:120876800-120883400	Weak transcription	Esophagus	oesophagus
4	chr12:120877000-120881200	Weak transcription	Psoas Muscle	Psoas
5	chr12:120877000-120883000	Weak transcription	Pancreas	Pancrea
6	chr12:120877000-120883200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:120877200-120881000	Weak transcription	Gastric	stomach
8	chr12:120877200-120882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:120877200-120882000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120877200-120883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:120877200-120883200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:120877400-120882800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:120877800-120882000	Strong transcription	Fetal Stomach	stomach
14	chr12:120877800-120882200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:120877800-120882600	Strong transcription	Left Ventricle	heart
16	chr12:120877800-120883400	Weak transcription	Stomach Mucosa	stomach
17	chr12:120878000-120881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:120878000-120881800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:120878000-120882000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:120878000-120882000	Weak transcription	NH-A	brain
21	chr12:120878000-120882200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:120878000-120882400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:120878000-120882600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:120878000-120882600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:120878000-120882600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:120878000-120882600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:120878000-120882600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:120878000-120882600	Strong transcription	Placenta	Placenta
29	chr12:120878000-120882600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:120878000-120882600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:120878000-120882800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:120878000-120882800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:120878000-120882800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:120878000-120882800	Strong transcription	Fetal Thymus	thymus
35	chr12:120878000-120883000	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:120878000-120883200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:120878000-120883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:120878000-120883200	Weak transcription	Fetal Brain Male	brain
39	chr12:120878000-120883200	Weak transcription	Right Atrium	heart
40	chr12:120878000-120883400	Weak transcription	Small Intestine	intestine
41	chr12:120878200-120881600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:120878200-120881600	Strong transcription	Dnd41	blood
43	chr12:120878200-120881800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:120878200-120881800	Strong transcription	K562	blood
45	chr12:120878200-120882000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:120878200-120882000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:120878200-120882000	Strong transcription	Fetal Intestine Small	intestine
48	chr12:120878200-120882200	Strong transcription	Liver	Liver
49	chr12:120878200-120882200	Strong transcription	NHEK	skin
50	chr12:120878200-120882400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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