Variant report

Variant	rs1999460
Chromosome Location	chr6:167532755-167532756
allele	C/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	ELF1	chr6:167532234-167532809	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:167531624-167537352	GM12891	blood:	n/a	n/a
3	CTCF	chr6:167532680-167532830	GM12872	blood:	n/a	n/a
4	MTA3	chr6:167531979-167532940	GM12878	blood:	n/a	n/a
5	ZNF263	chr6:167532318-167532975	HEK293-T-REx	kidney:	n/a	chr6:167532656-167532665

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167530846..167533349-chr6:167533846..167535491,2	K562	blood:
2	chr6:167530415..167533348-chr6:167542772..167545436,2	K562	blood:

Variant related genes	Relation type
CCR6	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10946216	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11575078	0.81[AMR][1000 genomes]
rs1571878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1854853	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3093017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3093018	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3093019	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3093023	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3093024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456160	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6907666	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
6	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1018193	chr6:167491589-167797294	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv538544	chr6:167491589-167797294	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv469673	chr6:167500376-167658532	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv482439	chr6:167500376-167658532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2758094	chr6:167501204-167845935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759492	chr6:167501204-168176733	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv482873	chr6:167521620-167679133	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1024657	chr6:167526198-167555488	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167527400-167533400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:167527600-167536200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr6:167528200-167533600	Weak transcription	Right Atrium	heart
4	chr6:167528600-167532800	Genic enhancers	Primary B cells from cord blood	blood
5	chr6:167530200-167533200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:167530200-167533200	Weak transcription	Fetal Intestine Large	intestine
7	chr6:167530200-167533600	Weak transcription	Ovary	ovary
8	chr6:167530200-167535200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:167530200-167543200	Weak transcription	Spleen	Spleen
10	chr6:167530400-167538200	Weak transcription	Gastric	stomach
11	chr6:167530600-167533200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:167530600-167533600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:167530800-167542800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:167531400-167536400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:167531600-167534400	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:167531800-167533600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:167532000-167535800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:167532200-167533000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:167532200-167533200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr6:167532200-167534400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:167532200-167535600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:167532200-167536000	Enhancers	Primary T cells from cord blood	blood
23	chr6:167532400-167532800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:167532400-167532800	Enhancers	Colonic Mucosa	Colon
25	chr6:167532400-167532800	Enhancers	Duodenum Mucosa	Duodenum
26	chr6:167532400-167534000	Enhancers	Fetal Thymus	thymus
27	chr6:167532400-167535000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:167532600-167532800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr6:167532600-167532800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:167532600-167532800	Enhancers	HepG2	liver
31	chr6:167532600-167533000	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:167532600-167533000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr6:167532600-167533200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:167532600-167533400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:167532600-167533800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:167532600-167534200	Enhancers	Thymus	Thymus
37	chr6:167532600-167536000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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