Variant report

Variant	rs59531270
Chromosome Location	chr6:33251325-33251326
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	POLR2A	chr6:33251100-33251855	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33165514..33167984-chr6:33250652..33252906,2	K562	blood:
2	chr6:33251246..33252837-chr6:33377123..33378760,2	K562	blood:

Variant related genes	Relation type
WDR46	TF binding region
ENSG00000112511	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000202441	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs3173275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56999860	0.81[AFR][1000 genomes]
rs57582515	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57745261	1.00[AMR][1000 genomes]
rs58759132	0.96[AFR][1000 genomes]
rs58883992	0.95[AFR][1000 genomes]
rs59097151	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59142568	1.00[AMR][1000 genomes]
rs59368071	1.00[AMR][1000 genomes]
rs60170976	0.95[AFR][1000 genomes]
rs60813085	0.85[AFR][1000 genomes]
rs6906693	1.00[AMR][1000 genomes]
rs6908509	1.00[AMR][1000 genomes]
rs6920095	1.00[AMR][1000 genomes]
rs6931141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408048	0.85[AFR][1000 genomes]
rs73408053	0.87[AFR][1000 genomes]
rs73408061	0.94[AFR][1000 genomes]
rs73408065	0.94[AFR][1000 genomes]
rs73408067	0.94[AFR][1000 genomes]
rs73410003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410043	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410049	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462893	chr6:33142539-33256471	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv602830	chr6:33142539-33256471	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
4	nsv462894	chr6:33174783-33254665	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv602831	chr6:33174783-33254665	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
6	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33245600-33251400	Weak transcription	NHDF-Ad	bronchial
2	chr6:33245600-33255200	Strong transcription	NHEK	skin
3	chr6:33245600-33255400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:33245800-33254400	Weak transcription	Fetal Kidney	kidney
5	chr6:33245800-33255600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:33245800-33255800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:33245800-33255800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:33245800-33256000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:33245800-33256000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:33245800-33256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:33246000-33251800	Weak transcription	Small Intestine	intestine
12	chr6:33246000-33252600	Weak transcription	Psoas Muscle	Psoas
13	chr6:33246000-33255200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:33246000-33255600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:33246000-33255600	Strong transcription	Fetal Intestine Large	intestine
16	chr6:33246000-33255800	Strong transcription	Fetal Stomach	stomach
17	chr6:33246000-33255800	Weak transcription	Right Atrium	heart
18	chr6:33246200-33251400	Strong transcription	Brain Cingulate Gyrus	brain
19	chr6:33246200-33252600	Strong transcription	Fetal Brain Female	brain
20	chr6:33246200-33253000	Strong transcription	Dnd41	blood
21	chr6:33246200-33255000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:33246200-33255800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:33246200-33255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:33246200-33255800	Strong transcription	Brain Anterior Caudate	brain
25	chr6:33246400-33255400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:33246400-33255400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:33246400-33255400	Strong transcription	Lung	lung
28	chr6:33246400-33255800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:33246400-33255800	Strong transcription	Osteobl	bone
30	chr6:33246600-33252200	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:33246600-33253400	Strong transcription	Brain Hippocampus Middle	brain
32	chr6:33246600-33255400	Strong transcription	HepG2	liver
33	chr6:33246600-33255600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:33246600-33255600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:33246600-33255600	Strong transcription	Liver	Liver
36	chr6:33246600-33255600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:33246600-33255600	Weak transcription	Fetal Heart	heart
38	chr6:33246600-33255800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:33246800-33255800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:33247000-33251400	Strong transcription	Ovary	ovary
41	chr6:33247000-33252200	Weak transcription	Fetal Brain Male	brain
42	chr6:33247200-33253200	Strong transcription	Gastric	stomach
43	chr6:33247200-33253400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr6:33247200-33254200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:33247200-33255800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:33247200-33255800	Strong transcription	Fetal Muscle Leg	muscle
47	chr6:33247400-33254200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:33247400-33255200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr6:33247400-33255600	Strong transcription	Primary T cells from cord blood	blood
50	chr6:33247600-33254000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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