Variant report

Variant	rs501220
Chromosome Location	chr6:25873025-25873026
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:25873000-25873150	RPTEC	kidney:	n/a	n/a

Variant related genes	Relation type
SLC17A3	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10214468	1.00[CEU][hapmap]
rs1165158	0.83[CHD][hapmap]
rs1165162	0.83[CHD][hapmap]
rs1165163	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1165164	0.83[CHD][hapmap]
rs1165168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1165184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1165202	0.95[ASN][1000 genomes]
rs1177441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1182814	0.83[CHD][hapmap]
rs1184498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs1324087	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1324088	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1892252	1.00[GIH][hapmap]
rs3823151	0.83[GIH][hapmap]
rs523383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556339	1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs579996	0.83[GIH][hapmap]
rs603089	0.93[YRI][hapmap]
rs629444	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap]
rs651578	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6909187	0.92[JPT][hapmap]
rs6910549	0.93[CEU][hapmap]
rs972087	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv427747	chr6:25641380-25908218	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
5	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs501220	HIST1H2BM	cis	cerebellum	SCAN
rs501220	BTN3A2	cis	cerebellum	SCAN
rs501220	HIST1H3D	cis	cerebellum	SCAN
rs501220	BTN3A2	cis	parietal	SCAN
rs501220	TRIM38	cis	lymphoblastoid	seeQTL
rs501220	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL
rs501220	HIST1H4F	cis	parietal	SCAN
rs501220	HIST1H2AC	cis	cerebellum	SCAN
rs501220	ACOT13	cis	parietal	SCAN
rs501220	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL
rs501220	ZSCAN23	cis	cerebellum	SCAN
rs501220	HIST1H1E	cis	parietal	SCAN
rs501220	ZSCAN23	cis	parietal	SCAN
rs501220	BTN3A2	cis	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25866800-25873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:25867000-25873200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:25872800-25875800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr6:25873000-25873400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:25873000-25873600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr6:25873000-25873800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:25873000-25873800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:25873000-25874600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:25873000-25876400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:25873000-25877000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:25873000-25877000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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