Variant report

Variant	rs1811512
Chromosome Location	chr12:45049532-45049533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11182576	1.00[EUR][1000 genomes]
rs11831081	1.00[EUR][1000 genomes]
rs1450539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1452263	1.00[EUR][1000 genomes]
rs57108764	1.00[EUR][1000 genomes]
rs7139205	0.83[YRI][hapmap]

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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2762978	chr12:45042460-45051490	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45023400-45055600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:45043800-45054000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:45044400-45062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45046600-45050600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45047200-45050800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:45047400-45050600	Enhancers	Fetal Brain Male	brain
8	chr12:45047600-45050400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:45047800-45050000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:45047800-45050200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:45047800-45050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:45048000-45050000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:45048000-45050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:45048200-45050000	Enhancers	Fetal Intestine Small	intestine
15	chr12:45048200-45050200	Enhancers	Fetal Intestine Large	intestine
16	chr12:45048400-45049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:45048600-45049600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:45048800-45050000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:45048800-45053600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:45049200-45049600	Weak transcription	Fetal Brain Female	brain
21	chr12:45049400-45069000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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