Variant report

Variant	rs185169118
Chromosome Location	chr12:122208493-122208494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122207619..122210268-chr12:122236043..122238040,2	K562	blood:
2	chr12:122149338..122152297-chr12:122207626..122210986,3	MCF-7	breast:
3	chr12:122207127..122210356-chr12:122210673..122214780,4	K562	blood:
4	chr12:122165981..122168764-chr12:122207099..122209426,2	K562	blood:
5	chr12:122134190..122135735-chr12:122208204..122211190,2	K562	blood:
6	chr12:122207172..122208678-chr12:122212545..122214339,2	MCF-7	breast:
7	chr12:122203003..122205744-chr12:122206968..122208544,2	K562	blood:
8	chr12:122199720..122201840-chr12:122206766..122209575,2	K562	blood:
9	chr12:122127171..122128973-chr12:122208402..122210704,2	MCF-7	breast:
10	chr12:122204123..122206945-chr12:122208235..122211295,4	MCF-7	breast:
11	chr12:122181449..122183305-chr12:122208481..122211230,2	MCF-7	breast:
12	chr12:122134607..122135427-chr12:122208084..122208877,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188735	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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
4	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	esv1808272	chr12:122208492-122216042	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
3	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:122189200-122210800	Weak transcription	GM12878-XiMat	blood
6	chr12:122189200-122211000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:122190400-122217000	Weak transcription	Esophagus	oesophagus
8	chr12:122193000-122211000	Weak transcription	Pancreas	Pancrea
9	chr12:122193200-122211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:122195000-122211000	Weak transcription	Fetal Thymus	thymus
11	chr12:122195000-122211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:122195000-122211200	Weak transcription	Thymus	Thymus
13	chr12:122195000-122212600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:122195000-122213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:122196200-122211000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:122200600-122211000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:122200800-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:122203400-122208600	Weak transcription	Fetal Kidney	kidney
19	chr12:122203400-122209800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:122203600-122208800	Enhancers	Fetal Brain Male	brain
21	chr12:122203800-122211000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:122204000-122211000	Weak transcription	NHEK	skin
23	chr12:122204200-122210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:122204200-122213400	Weak transcription	Lung	lung
25	chr12:122204600-122209000	Weak transcription	Hela-S3	cervix
26	chr12:122204600-122210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:122204600-122215400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:122204800-122211000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:122205000-122211000	Weak transcription	Primary T cells from cord blood	blood
30	chr12:122205600-122209600	Enhancers	Left Ventricle	heart
31	chr12:122205800-122210000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:122205800-122210800	Weak transcription	HSMM	muscle
33	chr12:122206000-122216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:122206200-122209000	Weak transcription	Placenta	Placenta
35	chr12:122206200-122209600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:122206200-122210800	Weak transcription	HSMMtube	muscle
37	chr12:122206200-122211000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:122206200-122211200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:122206400-122210800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:122206400-122211000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:122206400-122211000	Weak transcription	NH-A	brain
42	chr12:122206400-122211600	Enhancers	Fetal Intestine Large	intestine
43	chr12:122206400-122211800	Enhancers	Adipose Nuclei	Adipose
44	chr12:122206400-122214200	Weak transcription	Gastric	stomach
45	chr12:122206400-122214600	Enhancers	Fetal Heart	heart
46	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
48	chr12:122206600-122210600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:122206600-122210800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:122206600-122211000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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