Variant report

Variant	rs532580720
Chromosome Location	chr13:92001547-92001548
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	chr13:91999153-92001929	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF7L2	chr13:91999245-92001683	HCT-116	colon:	n/a	n/a
3	CTCF	chr13:92001400-92001550	HFF-Myc	foreskin:	n/a	n/a
4	MAZ	chr13:92000839-92001615	HepG2	liver:	n/a	chr13:92001061-92001071 chr13:92001123-92001132
5	USF2	chr13:92001009-92001622	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr13:91998533-92004929	K562	blood:	n/a	chr13:91999821-91999831 chr13:91998551-91998561 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92000750-92000759
7	POLR2A	chr13:92000358-92001759	H1-neurons	neurons:	n/a	n/a
8	RCOR1	chr13:92000715-92001616	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr13:91998902-92001951	GM19099	blood:	n/a	n/a
10	POLR2A	chr13:91999502-92001984	Hela-S3	cervix:	n/a	n/a
11	TEAD4	chr13:92001115-92001726	H1-hESC	embryonic stem cell:	n/a	n/a
12	EBF1	chr13:92001157-92001790	GM12878	blood:	n/a	n/a
13	TCF12	chr13:92000698-92001601	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr13:92001095-92001552	H1-hESC	embryonic stem cell:	n/a	chr13:92001323-92001333 chr13:92001322-92001335 chr13:92001326-92001335 chr13:92001321-92001337 chr13:92001320-92001338 chr13:92001360-92001373 chr13:92001322-92001335
15	TRIM28	chr13:92001185-92001923	K562	blood:	n/a	n/a
16	POLR2A	chr13:92000432-92001856	GM12878	blood:	n/a	n/a
17	POLR2A	chr13:92000413-92001651	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr13:91998938-92001748	Raji	blood:	n/a	n/a
19	POLR2A	chr13:91998832-92013433	K562	blood:	n/a	n/a
20	SP1	chr13:92000403-92003851	K562	blood:	n/a	chr13:92001153-92001165 chr13:92001601-92001610 chr13:92001601-92001611 chr13:92001153-92001165 chr13:92000878-92000890 chr13:92001041-92001050 chr13:92001600-92001612 chr13:92001154-92001163 chr13:92001155-92001164 chr13:92001154-92001168 chr13:92000880-92000889 chr13:92000879-92000888 chr13:92001061-92001070 chr13:92001600-92001612 chr13:92000880-92000889 chr13:92001057-92001071 chr13:92001597-92001611 chr13:92000878-92000890
21	TBL1XR1	chr13:92000687-92005105	K562	blood:	n/a	n/a
22	MEF2A	chr13:92000825-92001616	GM12878	blood:	n/a	chr13:92001474-92001482
23	USF1	chr13:92000509-92001760	K562	blood:	n/a	chr13:92000668-92000684
24	POLR2A	chr13:92000562-92001700	GM12891	blood:	n/a	n/a
25	POLR2A	chr13:91998968-92003731	K562	blood:	n/a	n/a
26	KAP1	chr13:92001184-92002636	U2OS	brain:	n/a	n/a
27	POU2F2	chr13:92000622-92001576	GM12891	blood:	n/a	chr13:92001055-92001067
28	STAT3	chr13:92001489-92001608	GM12878	blood:	n/a	n/a
29	SRF	chr13:92000846-92001645	K562	blood:	n/a	chr13:92001039-92001049 chr13:92001155-92001165 chr13:92001061-92001071
30	CREB1	chr13:91998190-92005186	K562	blood:	n/a	n/a
31	MAX	chr13:92000460-92001886	HCT-116	colon:	n/a	chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384 chr13:92000750-92000759
32	GABPA	chr13:91999062-92001679	K562	blood:	n/a	chr13:91999848-91999857 chr13:92000697-92000706 chr13:92000739-92000748 chr13:91999624-91999633 chr13:91999821-91999830 chr13:91999637-91999651
33	MAZ	chr13:91999300-92001581	Hela-S3	cervix:	n/a	chr13:91999821-91999831 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92000750-92000759
34	YY1	chr13:92000417-92001591	HepG2	liver:	n/a	chr13:92001025-92001047 chr13:92000669-92000680 chr13:92000666-92000677 chr13:92000863-92000877 chr13:92001025-92001035 chr13:92000799-92000808 chr13:92001021-92001030 chr13:92001138-92001149 chr13:92000668-92000677 chr13:92001142-92001153 chr13:92001022-92001042 chr13:92001089-92001098 chr13:92001320-92001329 chr13:92000671-92000680 chr13:92001381-92001395 chr13:92000668-92000682
35	MYC	chr13:92001050-92001670	MCF-7	breast:	n/a	chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384
36	FOS	chr13:92001394-92001739	MCF10A-Er-Src	breast:	n/a	chr13:92001473-92001482
37	POLR2A	chr13:91999007-92004670	GM18951	blood:	n/a	n/a
38	TAF1	chr13:91999389-92001771	K562	blood:	n/a	n/a
39	POLR2A	chr13:91999055-92001790	GM12892	blood:	n/a	n/a
40	MXI1	chr13:91998376-92005054	K562	blood:	n/a	n/a
41	CTCF	chr13:92001130-92001648	K562	blood:	n/a	chr13:92001323-92001333 chr13:92001322-92001335 chr13:92001326-92001335 chr13:92001321-92001337 chr13:92001320-92001338 chr13:92001360-92001373 chr13:92001322-92001335
42	POLR2A	chr13:91999113-92002032	GM15510	blood:	n/a	n/a
43	POLR2A	chr13:91998860-92001773	GM19193	blood:	n/a	n/a
44	POLR2A	chr13:92001212-92001615	GM12891	blood:	n/a	n/a
45	YY1	chr13:91999151-92001703	K562	blood:	n/a	chr13:91999968-91999977 chr13:92001025-92001047 chr13:92000669-92000680 chr13:92000666-92000677 chr13:91999966-91999980 chr13:91999963-91999977 chr13:92000863-92000877 chr13:92001025-92001035 chr13:91999766-91999780 chr13:92000799-92000808 chr13:92001021-92001030 chr13:92001138-92001149 chr13:92000222-92000236 chr13:92000668-92000677 chr13:92001142-92001153 chr13:91999763-91999777 chr13:92001022-92001042 chr13:91999971-91999980 chr13:92001601-92001612 chr13:92001089-92001098 chr13:91999765-91999774 chr13:91999818-91999832 chr13:92001320-92001329 chr13:92000671-92000680 chr13:91999922-91999936 chr13:91999968-91999979 chr13:92001381-92001395 chr13:92000668-92000682
46	TAF1	chr13:92001167-92001631	PFSK-1	brain:	n/a	n/a
47	TBL1XR1	chr13:91998914-92005070	K562	blood:	n/a	n/a
48	MAX	chr13:92000996-92001839	H1-hESC	embryonic stem cell:	n/a	chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384
49	CHD2	chr13:91998857-92004937	K562	blood:	n/a	chr13:91999921-91999931 chr13:92000220-92000230 chr13:91999849-91999859 chr13:91999694-91999704 chr13:91999681-91999691
50	POLR2A	chr13:92000573-92001711	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:92001207..92003151-chr15:65588208..65589789,2	K562	blood:
2	chr13:91998556..92002777-chr9:134147037..134155728,18	K562	blood:
3	chr11:65190192..65192335-chr13:91999791..92002488,2	K562	blood:
4	chr13:92000407..92002112-chr3:5017943..5020563,2	K562	blood:
5	chr13:91999405..92003025-chr22:23522118..23524074,3	K562	blood:
6	chr11:65686358..65687859-chr13:91999900..92001660,2	K562	blood:
7	chr1:33004093..33007091-chr13:91999311..92002195,5	K562	blood:
8	chr13:91998254..92002103-chr22:22898499..22902488,4	K562	blood:
9	chr1:33004072..33007091-chr13:91999311..92001675,4	K562	blood:
10	chr13:92001216..92001980-chr16:31191381..31192319,2	Hela-S3	cervix:
11	chr13:45910919..45912639-chr13:91999905..92002237,2	K562	blood:
12	chr13:92001025..92001805-chr13:92009322..92010182,2	K562	blood:
13	chr13:92000570..92002705-chr3:129223670..129225638,2	MCF-7	breast:
14	chr13:92000503..92002491-chr5:137802235..137804530,2	K562	blood:
15	chr13:92000505..92003025-chr22:23522118..23523811,2	K562	blood:
16	chr13:91998556..92001592-chr9:134150017..134155728,10	K562	blood:
17	chr13:92000043..92002771-chr9:133971829..133974734,2	K562	blood:
18	chr13:91999993..92001632-chr2:85765128..85766944,2	K562	blood:
19	chr13:91999905..92002821-chr22:19420290..19421943,2	K562	blood:
20	chr13:92000736..92001706-chr15:45879106..45879976,2	Hela-S3	cervix:
21	chr1:78468848..78471469-chr13:91999787..92002475,2	K562	blood:
22	chr13:92000244..92002396-chr3:195806622..195808883,2	K562	blood:
23	chr13:91922956..91924872-chr13:91999191..92001609,2	K562	blood:
24	chr13:92000620..92002691-chr16:85648157..85650450,2	K562	blood:
25	chr13:92001133..92002653-chr19:59054469..59057228,2	K562	blood:
26	chr13:92000031..92002100-chr13:111364097..111366110,2	K562	blood:
27	chr1:194760364..194761866-chr13:92000592..92002297,2	K562	blood:
28	chr13:91999824..92001564-chr22:17082538..17085283,2	K562	blood:

Variant related genes	Relation type
MIR17HG	TF binding region
ENSG00000162616	Chromatin interaction
ENSG00000236794	Chromatin interaction
ENSG00000160062	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000186716	Chromatin interaction
ENSG00000220891	Chromatin interaction
ENSG00000126882	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000130726	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000100181	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000126878	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000199477	Chromatin interaction
ENSG00000214178	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000185608	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000264910	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv832679	chr13:91859467-92030220	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	1943 gene(s)	inside rSNPs	diseases
7	esv1795019	chr13:91992157-92003589	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1146 gene(s)	inside rSNPs	diseases
8	esv3347426	chr13:91999026-92002299	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
9	esv3375166	chr13:91999176-92001724	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	esv3422100	chr13:91999576-92002124	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv1796361	chr13:91999737-92003589	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
12	esv1802358	chr13:91999737-92003589	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
13	esv1802567	chr13:91999737-92003589	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
14	esv1808768	chr13:91999737-92003589	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
15	esv1815968	chr13:91999737-92003589	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
16	esv1834079	chr13:91999737-92003589	Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
17	esv1834506	chr13:91999737-92003589	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
18	esv1839472	chr13:91999737-92003589	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
19	esv1840965	chr13:91999737-92003589	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
20	esv1802171	chr13:91999737-92015977	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1940 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	chr13:91999000-92001600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr13:91999000-92001600	Active TSS	Brain Angular Gyrus	brain
3	chr13:91999000-92001600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr13:91999000-92001800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:91999000-92001800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:91999000-92001800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr13:91999000-92001800	Active TSS	Brain Substantia Nigra	brain
8	chr13:91999000-92002200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr13:91999000-92002200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:91999000-92002200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:91999000-92002200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:91999000-92002400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr13:91999000-92002800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:91999000-92003000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:91999200-92001600	Active TSS	Gastric	stomach
16	chr13:91999200-92001800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:91999200-92001800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:91999200-92001800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr13:91999200-92001800	Active TSS	Ovary	ovary
20	chr13:91999200-92002000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:91999200-92002000	Active TSS	Colonic Mucosa	Colon
22	chr13:91999200-92002000	Active TSS	Psoas Muscle	Psoas
23	chr13:91999200-92002000	Active TSS	Right Ventricle	heart
24	chr13:91999200-92002200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr13:91999200-92002400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr13:91999200-92002400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:91999400-92001600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:91999400-92001600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr13:91999400-92001600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:91999400-92001600	Active TSS	Brain Anterior Caudate	brain
31	chr13:91999400-92001600	Active TSS	Brain Hippocampus Middle	brain
32	chr13:91999400-92001600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr13:91999400-92001600	Active TSS	Esophagus	oesophagus
34	chr13:91999400-92001600	Active TSS	Lung	lung
35	chr13:91999400-92001600	Transcr. at gene 5' and 3'	Right Atrium	heart
36	chr13:91999400-92001600	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr13:91999400-92001600	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr13:91999400-92001600	Active TSS	Small Intestine	intestine
39	chr13:91999400-92001600	Active TSS	Stomach Mucosa	stomach
40	chr13:91999400-92001600	Active TSS	Spleen	Spleen
41	chr13:91999400-92001800	Active TSS	Brain Cingulate Gyrus	brain
42	chr13:91999400-92001800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr13:91999400-92002000	Active TSS	HSMMtube	muscle
44	chr13:91999400-92002200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:91999400-92002400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:91999400-92002400	Active TSS	Fetal Brain Female	brain
47	chr13:91999400-92002400	Active TSS	Fetal Intestine Small	intestine
48	chr13:91999400-92002400	Active TSS	Thymus	Thymus
49	chr13:91999400-92002400	Active TSS	HSMM	muscle
50	chr13:91999600-92001600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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