Variant report

Variant	rs371512423
Chromosome Location	chr20:25175840-25175841
allele	-/A
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	MAX	chr20:25175837-25176836	K562	blood:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
2	MAX	chr20:25175813-25177025	SK-N-SH	brain:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
3	TAF1	chr20:25175827-25176522	A549	lung:	n/a	n/a
4	HCFC1	chr20:25175800-25176635	Hela-S3	cervix:	n/a	n/a
5	CHD1	chr20:25175823-25177112	IMR90	lung:	n/a	n/a
6	NFIC	chr20:25175814-25176457	HepG2	liver:	n/a	chr20:25176073-25176101
7	MXI1	chr20:25175755-25177938	IMR90	lung:	n/a	n/a
8	MAX	chr20:25175769-25177594	HepG2	liver:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
9	POLR2A	chr20:25175810-25176734	HUVEC	blood vessel:	n/a	n/a
10	REST	chr20:25175647-25177806	H1-neurons	neurons:	n/a	chr20:25176280-25176293 chr20:25176901-25176914 chr20:25176642-25176655
11	RCOR1	chr20:25175719-25177767	IMR90	lung:	n/a	n/a
12	MAX	chr20:25175730-25177389	HepG2	liver:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
13	SIN3AK20	chr20:25175770-25178258	MCF-7	breast:	n/a	n/a
14	HEY1	chr20:25175735-25177233	HepG2	liver:	n/a	chr20:25176757-25176772 chr20:25176569-25176584
15	NRF1	chr20:25175796-25176703	SK-N-SH	brain:	n/a	chr20:25176242-25176256 chr20:25176287-25176296 chr20:25176293-25176302 chr20:25176291-25176305 chr20:25176247-25176256 chr20:25176245-25176256 chr20:25176238-25176247 chr20:25176291-25176302 chr20:25176245-25176259 chr20:25176290-25176301 chr20:25176245-25176256 chr20:25176288-25176302 chr20:25176291-25176300
16	CTCF	chr20:25175814-25176150	K562	blood:	n/a	n/a
17	CTCF	chr20:25175820-25175970	HVMF	connective:	n/a	n/a
18	MAX	chr20:25175661-25178154	A549	lung:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
19	YY1	chr20:25175817-25176469	GM12878	blood:	n/a	chr20:25176313-25176322
20	RAD21	chr20:25175799-25176572	A549	lung:	n/a	n/a
21	HDAC2	chr20:25175827-25177434	MCF-7	breast:	n/a	chr20:25176293-25176302 chr20:25175937-25175951 chr20:25175939-25175953 chr20:25175944-25175958 chr20:25175938-25175952 chr20:25175940-25175954 chr20:25175942-25175956 chr20:25175943-25175957 chr20:25175936-25175950 chr20:25175934-25175948
22	MAZ	chr20:25175782-25177559	IMR90	lung:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176565-25176574 chr20:25176335-25176342
23	MAX	chr20:25175833-25178231	MCF-7	breast:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
24	CREB1	chr20:25175823-25176641	K562	blood:	n/a	n/a
25	MYC	chr20:25175723-25177074	A549	lung:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
26	CTCF	chr20:25175780-25175930	HAc	cerebellar:	n/a	n/a
27	POLR2A	chr20:25175828-25176932	GM12892	blood:	n/a	n/a
28	CTCF	chr20:25175840-25175990	GM12864	blood:	n/a	n/a
29	POLR2A	chr20:25175840-25177081	H1-neurons	neurons:	n/a	n/a
30	MAX	chr20:25175796-25176718	MCF-7	breast:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
31	CREB1	chr20:25175835-25176962	A549	lung:	n/a	n/a
32	CTCF	chr20:25175800-25175950	A549	lung:	n/a	n/a
33	TAF1	chr20:25175837-25177205	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr20:25175816-25176562	A549	lung:	n/a	n/a
35	E2F6	chr20:25175816-25176794	A549	lung:	n/a	chr20:25176292-25176301 chr20:25176246-25176255 chr20:25176281-25176293
36	CTCF	chr20:25175800-25175950	RPTEC	kidney:	n/a	n/a
37	FOSL2	chr20:25175797-25176370	A549	lung:	n/a	chr20:25176313-25176322
38	MXI1	chr20:25175726-25177539	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr20:25174831-25177043	HepG2	liver:	n/a	n/a
40	RUNX3	chr20:25175767-25176952	GM12878	blood:	n/a	chr20:25176174-25176183 chr20:25176174-25176183
41	MYBL2	chr20:25175771-25176609	HepG2	liver:	n/a	n/a
42	TCF12	chr20:25175634-25177315	A549	lung:	n/a	n/a
43	MYBL2	chr20:25175766-25177325	HepG2	liver:	n/a	n/a
44	HDAC2	chr20:25175826-25177392	HepG2	liver:	n/a	chr20:25176293-25176302 chr20:25175937-25175951 chr20:25175939-25175953 chr20:25175944-25175958 chr20:25175938-25175952 chr20:25175940-25175954 chr20:25175942-25175956 chr20:25175943-25175957 chr20:25175936-25175950 chr20:25175934-25175948
45	MBD4	chr20:25175786-25176505	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr20:25175824-25176173	A549	lung:	n/a	n/a
47	MAX	chr20:25175833-25177590	ECC-1	luminal epithelium:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
48	MAX	chr20:25175731-25176946	A549	lung:	n/a	chr20:25176315-25176325 chr20:25176334-25176343 chr20:25176334-25176344 chr20:25176565-25176574 chr20:25176335-25176342
49	REST	chr20:25175651-25176526	A549	lung:	n/a	chr20:25176280-25176293
50	PML	chr20:25175809-25176942	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:25174010..25179528-chr20:25225802..25231331,13	MCF-7	breast:
2	chr20:25056370..25059250-chr20:25174569..25177571,3	MCF-7	breast:
3	chr20:25174902..25179249-chr20:25225017..25231959,9	MCF-7	breast:
4	chr20:25173813..25179807-chr20:25203379..25207002,9	MCF-7	breast:
5	chr20:25174588..25176232-chr20:25268673..25270382,2	MCF-7	breast:
6	chr20:24971936..24974944-chr20:25175039..25178381,3	MCF-7	breast:
7	chr20:25175542..25177840-chr20:25370513..25373072,2	MCF-7	breast:
8	chr20:25175724..25177464-chr6:157799912..157802892,2	MCF-7	breast:

Variant related genes	Relation type
ENTPD6	TF binding region
ENSG00000100987	Chromatin interaction
ENSG00000101474	Chromatin interaction
ENSG00000100994	Chromatin interaction
ENSG00000197586	Chromatin interaction
ENSG00000100997	Chromatin interaction
ENSG00000175048	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv3340	chr20:25160137-25190540	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	esv3388082	chr20:25175177-25177725	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25173200-25176000	Weak transcription	Ovary	ovary
2	chr20:25175200-25176000	Enhancers	Lung	lung
3	chr20:25175400-25176000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:25175400-25176000	Enhancers	Stomach Mucosa	stomach
5	chr20:25175400-25176000	Flanking Active TSS	HepG2	liver
6	chr20:25175400-25176600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:25175400-25177200	Active TSS	Hela-S3	cervix
8	chr20:25175600-25176000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:25175600-25176000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr20:25175600-25176000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr20:25175600-25176000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr20:25175600-25176000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr20:25175600-25176000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr20:25175600-25176000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:25175600-25176000	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr20:25175600-25176000	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr20:25175600-25176000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr20:25175600-25176000	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr20:25175600-25176000	Enhancers	Esophagus	oesophagus
20	chr20:25175600-25176000	Enhancers	Gastric	stomach
21	chr20:25175600-25176000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr20:25175600-25176000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr20:25175600-25176000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr20:25175600-25176200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr20:25175600-25176200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr20:25175600-25176200	Enhancers	Primary hematopoietic stem cells	blood
27	chr20:25175600-25176200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:25175600-25176200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:25175600-25176200	Flanking Active TSS	Liver	Liver
30	chr20:25175600-25176200	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr20:25175600-25176200	Flanking Active TSS	Dnd41	blood
32	chr20:25175600-25176600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:25175600-25176600	Active TSS	Fetal Brain Female	brain
34	chr20:25175600-25176800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:25175600-25177000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr20:25175600-25177000	Active TSS	Brain Substantia Nigra	brain
37	chr20:25175600-25177000	Active TSS	Osteobl	bone
38	chr20:25175600-25177200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:25175600-25177600	Active TSS	Fetal Kidney	kidney
40	chr20:25175800-25176000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr20:25175800-25176000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr20:25175800-25176000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr20:25175800-25176000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr20:25175800-25176000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr20:25175800-25176000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr20:25175800-25176000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr20:25175800-25176000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr20:25175800-25176000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr20:25175800-25176000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr20:25175800-25176000	Flanking Active TSS	Adipose Nuclei	Adipose

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