Variant report

Variant	rs148270270
Chromosome Location	chr12:121172922-121172923
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121164614..121167510-chr12:121171430..121173002,2	K562	blood:
2	chr12:121146426..121149148-chr12:121171776..121173750,2	MCF-7	breast:
3	chr12:121171766..121173339-chr12:121175246..121177538,2	K562	blood:

Variant related genes	Relation type
ENSG00000175970	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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164000-121177000	Weak transcription	Aorta	Aorta
2	chr12:121164200-121176400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:121164400-121174800	Weak transcription	Esophagus	oesophagus
4	chr12:121164400-121176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:121164400-121176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:121164400-121177600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:121164600-121177000	Weak transcription	Small Intestine	intestine
9	chr12:121164600-121177200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:121164800-121173600	Weak transcription	GM12878-XiMat	blood
12	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:121165000-121175200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:121165000-121176000	Weak transcription	Fetal Heart	heart
15	chr12:121165000-121177800	Weak transcription	A549	lung
16	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
17	chr12:121165600-121178000	Weak transcription	Stomach Mucosa	stomach
18	chr12:121166000-121174200	Weak transcription	Colonic Mucosa	Colon
19	chr12:121166000-121176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
21	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:121168400-121179200	Weak transcription	HepG2	liver
23	chr12:121168600-121174800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:121168600-121175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:121168600-121176200	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:121168600-121177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
28	chr12:121168800-121174200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:121168800-121176400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:121168800-121177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:121169000-121173600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:121169000-121174200	Weak transcription	Gastric	stomach
35	chr12:121169000-121174200	Weak transcription	Lung	lung
36	chr12:121169000-121174200	Weak transcription	Right Ventricle	heart
37	chr12:121169000-121174600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:121169000-121174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:121169000-121174800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:121169000-121175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:121169000-121175200	Weak transcription	Ovary	ovary
42	chr12:121169000-121175400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:121169000-121175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:121169000-121176000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:121169000-121176000	Weak transcription	Dnd41	blood
46	chr12:121169000-121176000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:121169000-121176200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:121169000-121176200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:121169000-121176400	Weak transcription	Brain Anterior Caudate	brain
50	chr12:121169000-121176600	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links