Variant report

Variant	rs13133062
Chromosome Location	chr4:48124057-48124058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48123791..48126043-chr4:48128232..48130518,2	MCF-7	breast:
2	chr4:48123606..48125834-chr4:48126808..48128865,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10007288	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs13118073	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]
rs13148174	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1466998	0.89[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap]
rs1567218	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17674224	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs3792624	0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4589663	0.89[ASW][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]
rs4695330	0.86[CHD][hapmap]
rs55718430	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60251898	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67723804	0.82[ASN][1000 genomes]
rs6825925	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6837324	0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs6844940	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6850108	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs7658300	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7679010	0.89[ASW][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13133062	TXK	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:48118400-48129600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr4:48118600-48128200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:48118800-48127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:48118800-48128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:48118800-48129000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:48120600-48126200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:48121600-48124600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:48121600-48129400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:48121800-48128800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:48122000-48124200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:48122600-48129400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr4:48122800-48124200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:48122800-48124800	Enhancers	Primary T cells from cord blood	blood
15	chr4:48122800-48125600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr4:48122800-48129400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr4:48123000-48124200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:48123000-48137600	Weak transcription	Gastric	stomach
19	chr4:48123400-48125400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:48124000-48124400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:48124000-48124400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48124000-48124400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:48124000-48124800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:48124000-48127200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:48124000-48129600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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