Variant report

Variant	rs370982600
Chromosome Location	chr12:117188709-117188710
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117174714..117176386-chr12:117186480..117189521,3	MCF-7	breast:
2	chr12:117187713..117190765-chr12:117193491..117197822,3	K562	blood:

Variant related genes	Relation type
ENSG00000239374	Chromatin interaction
ENSG00000111412	Chromatin interaction
ENSG00000135119	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1048004	chr12:117170738-117219076	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv53492	chr12:117188688-117190963	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117176600-117197600	Weak transcription	Aorta	Aorta
2	chr12:117176600-117197800	Weak transcription	Right Atrium	heart
3	chr12:117176800-117197600	Weak transcription	Thymus	Thymus
4	chr12:117176800-117217400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:117177000-117209400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:117177200-117197600	Weak transcription	A549	lung
9	chr12:117177200-117216800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
11	chr12:117177400-117225800	Weak transcription	HepG2	liver
12	chr12:117177600-117217000	Weak transcription	GM12878-XiMat	blood
13	chr12:117178000-117194400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:117179000-117191600	Weak transcription	Primary B cells from cord blood	blood
15	chr12:117179000-117197200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:117179000-117197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:117179000-117217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:117179400-117191400	Weak transcription	Dnd41	blood
19	chr12:117179600-117198800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:117179800-117191800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:117180800-117197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:117181600-117194200	Strong transcription	Fetal Brain Female	brain
23	chr12:117182200-117190000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:117182800-117197800	Weak transcription	Fetal Stomach	stomach
25	chr12:117182800-117198000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:117183400-117191600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:117183400-117191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:117186200-117197800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:117186600-117191800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:117187400-117192000	Weak transcription	NHLF	lung
31	chr12:117187600-117189200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:117187600-117192600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:117187800-117190400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:117188000-117188800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:117188000-117190000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:117188400-117190200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:117188400-117190600	Weak transcription	Fetal Thymus	thymus
38	chr12:117188400-117191400	Weak transcription	Brain Germinal Matrix	brain
39	chr12:117188400-117197400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:117188400-117217000	Weak transcription	Brain Angular Gyrus	brain
41	chr12:117188600-117189800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:117188600-117189800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:117188600-117190000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:117188600-117217000	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links