Variant report

Variant	rs7658300
Chromosome Location	chr4:48115264-48115265
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	chr4:48107035..48109587-chr4:48114590..48117554,2	K562	blood:

Variant related genes	Relation type
ENSG00000200269	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10007288	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs13118073	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs13133062	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]
rs13148174	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1466998	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs1567218	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17470892	0.80[TSI][hapmap]
rs17574371	0.81[TSI][hapmap]
rs17674224	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs3792624	0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4589663	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4695330	0.86[CHD][hapmap]
rs55718430	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60251898	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67723804	0.82[ASN][1000 genomes]
rs6825925	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6837324	0.80[AMR][1000 genomes]
rs6844940	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6850108	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7679010	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][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
rs7658300	TXK	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:48111800-48118600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:48113200-48116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:48113600-48121800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr4:48114000-48115800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr4:48114000-48116800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:48114200-48116000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:48114200-48116400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:48114400-48116000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr4:48114400-48116000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:48114400-48116800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:48114400-48116800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:48114400-48118200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:48114400-48118600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:48114400-48121600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:48114400-48123000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:48114600-48116000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:48114600-48118400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:48114800-48115800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:48114800-48115800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:48114800-48116400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:48114800-48116600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr4:48114800-48116800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr4:48115000-48117000	Genic enhancers	Primary T cells from cord blood	blood
26	chr4:48115200-48115400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:48115200-48117000	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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