Variant report

Variant	rs550848516
Chromosome Location	chr12:49927987-49927988
allele	A/G
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:5)
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	chr12:49927913-49928069	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49927196..49929011-chr12:49930534..49932956,2	MCF-7	breast:
2	chr12:49921630..49924042-chr12:49926070..49928576,2	K562	blood:
3	chr12:49920492..49922115-chr12:49926233..49928971,2	MCF-7	breast:
4	chr12:49925851..49930721-chr12:49933231..49936704,4	MCF-7	breast:
5	chr12:49924771..49927060-chr12:49927264..49929041,2	K562	blood:

No data

Variant related genes	Relation type
KCNH3	TF binding region
ENSG00000135519	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1801776	chr12:49915354-49934565	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49914400-49931400	Weak transcription	Pancreas	Pancrea
2	chr12:49916400-49931200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:49917600-49931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:49920000-49928800	Weak transcription	Primary B cells from cord blood	blood
5	chr12:49920000-49931200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:49920200-49928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:49920200-49929600	Weak transcription	HMEC	breast
8	chr12:49920200-49931400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:49920400-49929600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:49920400-49930000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:49920600-49931200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:49920600-49931400	Weak transcription	Spleen	Spleen
13	chr12:49920800-49929600	Weak transcription	Fetal Brain Female	brain
14	chr12:49921200-49929600	Weak transcription	Placenta	Placenta
15	chr12:49921800-49928200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:49921800-49928400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:49921800-49928600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:49921800-49928600	Weak transcription	Brain Germinal Matrix	brain
19	chr12:49921800-49928800	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:49921800-49929600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:49921800-49930200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:49921800-49930800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:49921800-49931200	Weak transcription	Right Ventricle	heart
24	chr12:49922000-49928000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:49922000-49928600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:49922000-49928600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:49922000-49928600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:49922000-49928600	Weak transcription	Fetal Intestine Large	intestine
29	chr12:49922000-49929600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:49922000-49929600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:49922000-49929600	Weak transcription	Lung	lung
32	chr12:49922000-49929600	Weak transcription	HSMM	muscle
33	chr12:49922000-49929600	Weak transcription	NH-A	brain
34	chr12:49922000-49929600	Weak transcription	Osteobl	bone
35	chr12:49922000-49929800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:49922000-49929800	Weak transcription	NHEK	skin
37	chr12:49922000-49929800	Weak transcription	NHLF	lung
38	chr12:49922000-49930000	Weak transcription	Fetal Kidney	kidney
39	chr12:49922000-49931200	Weak transcription	HSMMtube	muscle
40	chr12:49922400-49928200	Weak transcription	Fetal Lung	lung
41	chr12:49922600-49929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:49922600-49930000	Weak transcription	GM12878-XiMat	blood
43	chr12:49922800-49929600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:49923000-49928400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:49923400-49928200	Weak transcription	K562	blood
46	chr12:49923400-49928400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:49923400-49929600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:49923400-49929800	Weak transcription	Hela-S3	cervix
49	chr12:49923600-49929800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:49923800-49928200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links