Variant report

Variant	rs557593344
Chromosome Location	chr2:113534665-113534666
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113528918..113531311-chr2:113533495..113535043,2	K562	blood:
2	chr2:113533014..113535192-chr2:113549510..113553376,4	K562	blood:
3	chr2:113524833..113528403-chr2:113530535..113535066,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv3436785	chr2:113533106-113535654	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3390387	chr2:113533281-113535579	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2518569	chr2:113533595-113535001	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3354690	chr2:113533781-113535129	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113522800-113541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113523400-113539200	Weak transcription	Hela-S3	cervix
3	chr2:113526800-113537800	Weak transcription	NHDF-Ad	bronchial
4	chr2:113530200-113541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:113530400-113538600	Weak transcription	K562	blood
6	chr2:113531600-113534800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:113533600-113535200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:113533600-113535400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:113533600-113535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:113533800-113535200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:113534000-113538800	Weak transcription	GM12878-XiMat	blood
14	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
15	chr2:113534400-113534800	Weak transcription	NHEK	skin
16	chr2:113534400-113535600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:113534600-113535000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:113534600-113535000	Enhancers	Thymus	Thymus
19	chr2:113534600-113535200	Enhancers	Primary T cells from cord blood	blood
20	chr2:113534600-113535200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:113534600-113535200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:113534600-113535200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:113534600-113535200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr2:113534600-113535200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:113534600-113535400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:113534600-113535400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:113534600-113535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:113534600-113535600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:113534600-113535600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:113534600-113535600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:113534600-113535800	Genic enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links