Variant report

Variant	rs150318048
Chromosome Location	chr12:123879801-123879802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123879282..123881067-chr12:123885695..123887495,2	MCF-7	breast:
2	chr12:123879767..123882314-chr12:123882742..123884960,2	MCF-7	breast:
3	chr12:123873357..123876856-chr12:123879238..123882589,5	K562	blood:
4	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
5	chr12:123878393..123880843-chr12:123888077..123890359,3	MCF-7	breast:
6	chr12:123866827..123868502-chr12:123879213..123881097,2	K562	blood:

Variant related genes	Relation type
ENSG00000183955	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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv976672	chr12:123879379-123879879	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 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	chr12:123875000-123881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:123875000-123884400	Strong transcription	Thymus	Thymus
3	chr12:123875000-123886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:123875200-123880800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:123875200-123881000	Strong transcription	Fetal Intestine Large	intestine
6	chr12:123875200-123884400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:123875200-123884600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:123875200-123894400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:123875400-123882200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:123875400-123882600	Strong transcription	Placenta	Placenta
11	chr12:123875400-123883600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:123875400-123884600	Strong transcription	Primary T cells from cord blood	blood
13	chr12:123875600-123880800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:123875600-123881000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:123875600-123881600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:123875600-123882200	Strong transcription	Colon Smooth Muscle	Colon
17	chr12:123875600-123882800	Weak transcription	Psoas Muscle	Psoas
18	chr12:123875600-123884000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:123875600-123884200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:123875600-123884200	Strong transcription	A549	lung
21	chr12:123875600-123884200	Strong transcription	GM12878-XiMat	blood
22	chr12:123875600-123884400	Strong transcription	HMEC	breast
23	chr12:123875600-123884600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:123875600-123885400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:123875600-123894200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:123875600-123895600	Strong transcription	Fetal Thymus	thymus
27	chr12:123875800-123881200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:123875800-123881800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:123875800-123881800	Strong transcription	NH-A	brain
30	chr12:123875800-123882000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:123875800-123882200	Strong transcription	NHEK	skin
32	chr12:123875800-123884200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:123875800-123884600	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr12:123875800-123894000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:123876000-123884400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:123876200-123882800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:123876200-123884400	Strong transcription	Fetal Lung	lung
38	chr12:123876200-123885600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:123876400-123881400	Strong transcription	Fetal Stomach	stomach
40	chr12:123876400-123882600	Strong transcription	Liver	Liver
41	chr12:123876400-123884600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:123876400-123894800	Strong transcription	Fetal Intestine Small	intestine
43	chr12:123876600-123881600	Strong transcription	HSMM	muscle
44	chr12:123876600-123881800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:123876600-123881800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:123876600-123882000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:123876600-123882000	Strong transcription	HSMMtube	muscle
48	chr12:123876600-123884000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr12:123876600-123894800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:123876800-123880400	Weak transcription	Fetal Brain Male	brain

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