Variant report

Variant	rs151141750
Chromosome Location	chr12:49915420-49915421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49915417..49918018-chr12:49960149..49961960,3	MCF-7	breast:
2	chr12:49912988..49915445-chr12:49916293..49919057,4	K562	blood:

Variant related genes	Relation type
ENSG00000187778	Chromatin interaction
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv518746	chr12:49870964-49924637	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:49869600-49918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:49873000-49918800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:49873200-49918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:49876800-49916200	Weak transcription	Psoas Muscle	Psoas
6	chr12:49878600-49918600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:49880400-49916000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:49882200-49918800	Weak transcription	Colonic Mucosa	Colon
9	chr12:49882400-49918400	Weak transcription	Lung	lung
10	chr12:49882600-49916400	Weak transcription	Aorta	Aorta
11	chr12:49884200-49918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:49884200-49918600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:49884600-49916400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:49886000-49918400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:49886400-49918200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:49888800-49927800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:49890800-49918600	Weak transcription	Brain Anterior Caudate	brain
18	chr12:49890800-49918600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:49891000-49916600	Weak transcription	Ovary	ovary
20	chr12:49894000-49916600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:49894000-49919600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:49896000-49916800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:49896400-49916600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:49896800-49916400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:49896800-49916400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:49896800-49916600	Weak transcription	Fetal Thymus	thymus
27	chr12:49898200-49916400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:49898200-49918400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:49900000-49916400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:49900600-49916400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:49900600-49916600	Weak transcription	Left Ventricle	heart
32	chr12:49905000-49918600	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:49905200-49915800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:49905200-49927000	Weak transcription	Fetal Heart	heart
35	chr12:49905400-49918400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:49905600-49919000	Weak transcription	HepG2	liver
37	chr12:49907200-49918400	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:49909600-49916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:49909600-49918800	Weak transcription	HMEC	breast
40	chr12:49909600-49925600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:49909800-49918600	Weak transcription	Liver	Liver
42	chr12:49910600-49921600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:49911000-49923000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:49911200-49922000	Strong transcription	Fetal Intestine Large	intestine
45	chr12:49911400-49916400	Weak transcription	Fetal Lung	lung
46	chr12:49911400-49917200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:49911400-49918400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:49911600-49916000	Weak transcription	Primary T cells from cord blood	blood
49	chr12:49911600-49916600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:49911800-49918400	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links