Variant report

Variant	rs6115349
Chromosome Location	chr20:25846494-25846495
allele	A/C
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	NRF1	chr20:25846315-25846653	K562	blood:	n/a	chr20:25846497-25846508
2	POLR2A	chr20:25846252-25846684	ECC-1	luminal epithelium:	n/a	n/a
3	NRF1	chr20:25846317-25846687	H1-hESC	embryonic stem cell:	n/a	chr20:25846497-25846508
4	NRF1	chr20:25846318-25846686	GM12878	blood:	n/a	chr20:25846497-25846508
5	RFX5	chr20:25846370-25846531	HepG2	liver:	n/a	n/a
6	MAX	chr20:25846380-25846573	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:25846351-25846644	H1-neurons	neurons:	n/a	n/a
8	THAP1	chr20:25846441-25846581	K562	blood:	n/a	n/a
9	POLR2A	chr20:25846490-25846545	MCF10A-Er-Src	breast:	n/a	n/a
10	NRF1	chr20:25846130-25846817	SK-N-SH	brain:	n/a	chr20:25846497-25846508
11	MAZ	chr20:25846331-25846512	HepG2	liver:	n/a	n/a
12	MYBL2	chr20:25846171-25846747	HepG2	liver:	n/a	n/a
13	MAX	chr20:25846303-25846738	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr20:25846211-25846751	A549	lung:	n/a	n/a
15	NRF1	chr20:25846349-25846673	HepG2	liver:	n/a	chr20:25846497-25846508
16	THAP1	chr20:25846414-25846601	K562	blood:	n/a	n/a

Variant related genes	Relation type
FAM182B	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2185914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6107098	1.00[YRI][hapmap]
rs6115248	0.91[ASW][hapmap]
rs6115320	1.00[EUR][1000 genomes]
rs6115322	1.00[EUR][1000 genomes]
rs6115332	1.00[CEU][hapmap]
rs6115335	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6115406	1.00[AMR][1000 genomes]
rs7363150	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758517	chr20:25701992-26319569	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	esv2758790	chr20:25701992-26319569	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv470545	chr20:25715507-26309255	Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv979422	chr20:25732656-25867609	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv10664	chr20:25767042-25849064	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv585749	chr20:25767347-25856929	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv585752	chr20:25786189-25864851	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv585753	chr20:25786189-25892571	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv585754	chr20:25786301-25864851	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv585755	chr20:25786301-25871801	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv585756	chr20:25786301-25948094	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv585757	chr20:25786301-25948327	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv585758	chr20:25786984-25951658	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv585759	chr20:25787096-25948327	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1059041	chr20:25832105-26007269	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1060065	chr20:25832105-26305567	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
17	nsv9795	chr20:25832369-25851689	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv979451	chr20:25836169-25856112	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3502991	chr20:25837879-25847973	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3502992	chr20:25837879-25847973	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3429566	chr20:25838143-25848095	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25841800-25847200	Enhancers	Spleen	Spleen
2	chr20:25844600-25846600	Enhancers	Fetal Brain Male	brain
3	chr20:25844600-25849400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr20:25844800-25849200	Active TSS	Brain Germinal Matrix	brain
5	chr20:25844800-25849800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr20:25845200-25846600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:25845800-25847000	Flanking Active TSS	Dnd41	blood
8	chr20:25845800-25847200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:25846000-25846600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr20:25846000-25846600	Active TSS	Brain Hippocampus Middle	brain
11	chr20:25846000-25846800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr20:25846000-25846800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr20:25846000-25846800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr20:25846000-25846800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:25846000-25846800	Enhancers	Primary B cells from peripheral blood	blood
16	chr20:25846000-25846800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr20:25846000-25846800	Active TSS	Brain Substantia Nigra	brain
18	chr20:25846000-25846800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr20:25846000-25846800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr20:25846000-25846800	Active TSS	Rectal Smooth Muscle	rectum
21	chr20:25846000-25846800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr20:25846000-25846800	Active TSS	A549	lung
23	chr20:25846000-25846800	Active TSS	Osteobl	bone
24	chr20:25846000-25847000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr20:25846000-25847000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr20:25846000-25847200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:25846000-25847400	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr20:25846000-25850000	Active TSS	Brain Anterior Caudate	brain
29	chr20:25846200-25846600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr20:25846200-25846600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:25846200-25846600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr20:25846200-25846600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr20:25846200-25846600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr20:25846200-25846600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr20:25846200-25846600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:25846200-25846600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr20:25846200-25846600	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr20:25846200-25846600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:25846200-25846600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr20:25846200-25846600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr20:25846200-25846600	Flanking Active TSS	Esophagus	oesophagus
42	chr20:25846200-25846600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr20:25846200-25846600	Flanking Bivalent TSS/Enh	Placenta	Placenta
44	chr20:25846200-25846600	Bivalent Enhancer	Fetal Thymus	thymus
45	chr20:25846200-25846600	Enhancers	Gastric	stomach
46	chr20:25846200-25846600	Enhancers	Lung	lung
47	chr20:25846200-25846600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
48	chr20:25846200-25846600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
49	chr20:25846200-25846600	Active TSS	HUVEC	blood vessel
50	chr20:25846200-25846800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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