Variant report

Variant	rs558049004
Chromosome Location	chr12:117365564-117365565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117348721..117350457-chr12:117364988..117367917,3	MCF-7	breast:
2	chr12:117364974..117366703-chr12:117369746..117372327,2	MCF-7	breast:
3	chr12:117359173..117361921-chr12:117365401..117367494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
7	chr12:117350200-117366000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:117350200-117366000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:117350200-117366800	Weak transcription	Spleen	Spleen
10	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
12	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
13	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
14	chr12:117357000-117365800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:117357200-117365600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:117357200-117367600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:117357800-117367600	Weak transcription	Fetal Heart	heart
18	chr12:117358000-117366000	Weak transcription	Liver	Liver
19	chr12:117358400-117365600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:117358400-117366000	Weak transcription	Fetal Intestine Large	intestine
21	chr12:117358400-117366000	Weak transcription	Fetal Kidney	kidney
22	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
23	chr12:117358600-117366000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
25	chr12:117359200-117367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:117359400-117366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:117362400-117365600	Enhancers	Colon Smooth Muscle	Colon
28	chr12:117362800-117365600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:117362800-117366000	Weak transcription	Hela-S3	cervix
30	chr12:117363000-117365600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:117363000-117367400	Weak transcription	HepG2	liver
32	chr12:117363200-117365600	Weak transcription	NHDF-Ad	bronchial
33	chr12:117363200-117365800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:117363200-117366000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:117363200-117366000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:117363200-117366000	Weak transcription	Fetal Thymus	thymus
37	chr12:117363200-117366000	Weak transcription	Gastric	stomach
38	chr12:117363200-117366000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:117363200-117366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:117363200-117366000	Weak transcription	A549	lung
41	chr12:117363200-117366000	Weak transcription	HSMMtube	muscle
42	chr12:117363200-117371200	Weak transcription	Stomach Mucosa	stomach
43	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:117363400-117365800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:117363400-117365800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:117363400-117366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:117363400-117366000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:117363400-117366000	Weak transcription	K562	blood
49	chr12:117363400-117366000	Weak transcription	NH-A	brain
50	chr12:117363400-117366000	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links