Variant report

Variant	rs12505112
Chromosome Location	chr4:101022118-101022119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12502279	0.87[ASN][1000 genomes]
rs12506869	0.85[ASN][1000 genomes]
rs12513071	0.86[ASN][1000 genomes]
rs12640004	0.83[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12642221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649533	0.99[ASN][1000 genomes]
rs12650258	1.00[ASN][1000 genomes]
rs4235443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532240	1.00[ASN][1000 genomes]
rs55666457	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55728175	1.00[ASN][1000 genomes]
rs55907205	1.00[ASN][1000 genomes]
rs55915722	1.00[ASN][1000 genomes]
rs56186276	1.00[ASN][1000 genomes]
rs62306138	1.00[ASN][1000 genomes]
rs62306147	0.99[ASN][1000 genomes]
rs62306151	0.86[ASN][1000 genomes]
rs6823618	0.99[ASN][1000 genomes]
rs6855061	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs7675143	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427689	chr4:100931741-101216531	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830018	chr4:100977238-101027920	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12505112	DDIT4L	cis	lymphoblastoid	seeQTL
rs12505112	BANK1	cis	cerebellum	SCAN
rs12505112	MAPKSP1	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101007800-101028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:101015200-101022200	Weak transcription	Fetal Thymus	thymus
3	chr4:101015600-101022200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr4:101017400-101022400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:101017800-101022200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:101018000-101022200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:101018200-101022200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:101020600-101022600	Enhancers	Fetal Intestine Large	intestine
9	chr4:101021000-101023400	Enhancers	Primary B cells from peripheral blood	blood
10	chr4:101021200-101022800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:101021400-101022600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:101021400-101022600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:101021400-101022800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:101021400-101023000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:101021600-101024000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:101021800-101022600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:101021800-101022600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:101021800-101022600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:101021800-101023600	Enhancers	Primary B cells from cord blood	blood
20	chr4:101022000-101022200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:101022000-101022600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:101022000-101022600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:101022000-101022600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:101022000-101022600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:101022000-101022600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:101022000-101022800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:101022000-101023000	Enhancers	Dnd41	blood

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