Variant report

Variant	rs59473078
Chromosome Location	chr6:33250148-33250149
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	chr6:33250072-33250627	K562	blood:	n/a	n/a
2	POLR2A	chr6:33250019-33250232	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33248031..33250805-chr6:33381162..33383303,2	MCF-7	breast:
2	chr6:33165702..33182742-chr6:33234718..33250379,54	K562	blood:
3	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:

Variant related genes	Relation type
WDR46	TF binding region
ENSG00000112511	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000204227	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000204228	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1705000	1.00[ASN][1000 genomes]
rs17221716	1.00[ASN][1000 genomes]
rs1755042	1.00[ASN][1000 genomes]
rs1794688	1.00[ASN][1000 genomes]
rs35433260	1.00[ASN][1000 genomes]
rs55700437	1.00[ASN][1000 genomes]
rs59572422	1.00[ASN][1000 genomes]
rs59841013	1.00[ASN][1000 genomes]
rs61687548	1.00[ASN][1000 genomes]
rs6900438	1.00[ASN][1000 genomes]
rs6900824	1.00[ASN][1000 genomes]
rs6906691	1.00[ASN][1000 genomes]
rs6907034	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6907978	1.00[ASN][1000 genomes]
rs6928341	1.00[ASN][1000 genomes]
rs6934454	1.00[ASN][1000 genomes]
rs71536195	1.00[ASN][1000 genomes]
rs73741556	1.00[ASN][1000 genomes]
rs73741557	1.00[ASN][1000 genomes]
rs7742747	1.00[ASN][1000 genomes]
rs7743118	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv3475242	chr6:33248677-33250829	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	esv3475243	chr6:33248677-33250829	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
9	esv9776	chr6:33249085-33250420	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	15 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	chr6:33245600-33250400	Strong transcription	NHLF	lung
2	chr6:33245600-33251400	Weak transcription	NHDF-Ad	bronchial
3	chr6:33245600-33255200	Strong transcription	NHEK	skin
4	chr6:33245600-33255400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:33245800-33250400	Weak transcription	HUVEC	blood vessel
6	chr6:33245800-33254400	Weak transcription	Fetal Kidney	kidney
7	chr6:33245800-33255600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:33245800-33255800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:33245800-33255800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:33245800-33256000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:33245800-33256000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:33245800-33256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:33246000-33251800	Weak transcription	Small Intestine	intestine
14	chr6:33246000-33252600	Weak transcription	Psoas Muscle	Psoas
15	chr6:33246000-33255200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:33246000-33255600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:33246000-33255600	Strong transcription	Fetal Intestine Large	intestine
18	chr6:33246000-33255800	Strong transcription	Fetal Stomach	stomach
19	chr6:33246000-33255800	Weak transcription	Right Atrium	heart
20	chr6:33246200-33251400	Strong transcription	Brain Cingulate Gyrus	brain
21	chr6:33246200-33252600	Strong transcription	Fetal Brain Female	brain
22	chr6:33246200-33253000	Strong transcription	Dnd41	blood
23	chr6:33246200-33255000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:33246200-33255800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:33246200-33255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:33246200-33255800	Strong transcription	Brain Anterior Caudate	brain
27	chr6:33246400-33250800	Strong transcription	Colonic Mucosa	Colon
28	chr6:33246400-33255400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:33246400-33255400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:33246400-33255400	Strong transcription	Lung	lung
31	chr6:33246400-33255800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:33246400-33255800	Strong transcription	Osteobl	bone
33	chr6:33246600-33250400	Strong transcription	Brain Substantia Nigra	brain
34	chr6:33246600-33251200	Strong transcription	Thymus	Thymus
35	chr6:33246600-33252200	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:33246600-33253400	Strong transcription	Brain Hippocampus Middle	brain
37	chr6:33246600-33255400	Strong transcription	HepG2	liver
38	chr6:33246600-33255600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:33246600-33255600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:33246600-33255600	Strong transcription	Liver	Liver
41	chr6:33246600-33255600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr6:33246600-33255600	Weak transcription	Fetal Heart	heart
43	chr6:33246600-33255800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:33246800-33250600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:33246800-33255800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:33247000-33250600	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr6:33247000-33250600	Strong transcription	Brain Angular Gyrus	brain
48	chr6:33247000-33250600	Strong transcription	HSMM	muscle
49	chr6:33247000-33251400	Strong transcription	Ovary	ovary
50	chr6:33247000-33252200	Weak transcription	Fetal Brain Male	brain

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