Variant report

Variant	rs112148553
Chromosome Location	chr2:10340829-10340830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10339278..10341450-chr2:10342848..10344717,2	K562	blood:
2	chr2:10331138..10333960-chr2:10340461..10341964,2	K562	blood:

Variant related genes	Relation type
ENSG00000265418	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3344936	chr2:10339031-10342870	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3401939	chr2:10339851-10341849	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3511355	chr2:10340422-10340912	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3457335	chr2:10340433-10340901	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2176584	chr2:10340455-10340906	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3457336	chr2:10340474-10340888	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3457334	chr2:10340506-10340849	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3511356	chr2:10340564-10340858	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3353664	chr2:10340671-10340903	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:10325600-10342800	Weak transcription	Fetal Brain Female	brain
4	chr2:10333000-10347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:10335200-10348600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:10336800-10344600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:10337200-10342800	Weak transcription	Gastric	stomach
8	chr2:10337200-10349600	Weak transcription	Spleen	Spleen
9	chr2:10337600-10342800	Weak transcription	Fetal Brain Male	brain
10	chr2:10338600-10351200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:10338800-10342400	Weak transcription	K562	blood
12	chr2:10338800-10344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:10339200-10345400	Weak transcription	Fetal Thymus	thymus
14	chr2:10339200-10345600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:10339400-10342400	Weak transcription	Fetal Stomach	stomach
16	chr2:10339400-10342600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:10339400-10343000	Weak transcription	Thymus	Thymus
18	chr2:10339400-10350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:10340000-10344000	Weak transcription	Brain Germinal Matrix	brain
21	chr2:10340400-10341800	Enhancers	HepG2	liver
22	chr2:10340400-10344400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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