Variant report

Variant	rs528905567
Chromosome Location	chr13:76124387-76124388
allele	A/G
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	MXI1	chr13:76123358-76124731	Hela-S3	cervix:	n/a	n/a
2	MAX	chr13:76123221-76124773	HCT-116	colon:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
3	POLR2A	chr13:76123155-76124625	PBDE	blood:	n/a	n/a
4	MAX	chr13:76124227-76124395	K562	blood:	n/a	n/a
5	POLR2A	chr13:76123257-76124392	IMR90	lung:	n/a	n/a
6	BACH1	chr13:76123391-76124432	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr13:76123338-76124727	Hela-S3	cervix:	n/a	n/a
8	CHD1	chr13:76122548-76124962	IMR90	lung:	n/a	n/a
9	KAP1	chr13:76123134-76124676	HEK293	kidney:	n/a	n/a
10	TCF7L2	chr13:76123340-76124698	HCT-116	colon:	n/a	n/a
11	MAFK	chr13:76123351-76124588	Hela-S3	cervix:	n/a	n/a
12	TBP	chr13:76124310-76124732	Hela-S3	cervix:	n/a	n/a
13	MYC	chr13:76123121-76124399	A549	lung:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
14	SIN3AK20	chr13:76123257-76124713	K562	blood:	n/a	n/a
15	POLR2A	chr13:76123312-76124620	K562	blood:	n/a	n/a
16	JUND	chr13:76122952-76124844	SK-N-SH	brain:	n/a	chr13:76124478-76124489 chr13:76124728-76124737
17	ARID3A	chr13:76123347-76124671	HepG2	liver:	n/a	n/a
18	KAP1	chr13:76123283-76125049	U2OS	brain:	n/a	n/a
19	MXI1	chr13:76123348-76124544	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr13:76123333-76124424	K562	blood:	n/a	n/a
21	MAZ	chr13:76123317-76124575	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
22	POLR2A	chr13:76123197-76124417	PFSK-1	brain:	n/a	n/a
23	MAX	chr13:76123330-76124615	Hela-S3	cervix:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
24	POLR2A	chr13:76123306-76124644	HEK293	kidney:	n/a	n/a
25	ZNF143	chr13:76124189-76124393	Hela-S3	cervix:	n/a	n/a
26	EP300	chr13:76123251-76124607	GM12878	blood:	n/a	chr13:76124094-76124108
27	POLR2A	chr13:76123306-76124554	GM18505	blood:	n/a	n/a
28	E2F4	chr13:76124363-76124775	MCF10A-Er-Src	breast:	n/a	n/a
29	MAX	chr13:76123221-76124424	H1-hESC	embryonic stem cell:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
30	POLR2A	chr13:76123289-76124573	Hela-S3	cervix:	n/a	n/a
31	MYC	chr13:76123350-76124393	Hela-S3	cervix:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
32	ELK1	chr13:76123186-76124610	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr13:76124385-76124747	IMR90	lung:	n/a	n/a
34	MAX	chr13:76123061-76124454	A549	lung:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
35	FOS	chr13:76124341-76124744	MCF10A-Er-Src	breast:	n/a	chr13:76124728-76124737
36	RAD21	chr13:76124174-76124605	Hela-S3	cervix:	n/a	chr13:76124293-76124303 chr13:76124291-76124303
37	POLR2A	chr13:76123246-76124836	GM12891	blood:	n/a	n/a
38	STAT5A	chr13:76123328-76124432	GM12878	blood:	n/a	chr13:76124098-76124109
39	POLR2A	chr13:76123346-76124683	Hela-S3	cervix:	n/a	n/a
40	ZKSCAN1	chr13:76123330-76124412	Hela-S3	cervix:	n/a	n/a
41	RUNX3	chr13:76123297-76124655	GM12878	blood:	n/a	n/a
42	ELF1	chr13:76124355-76124720	MCF-7	breast:	n/a	chr13:76124495-76124508
43	JUND	chr13:76123295-76124794	K562	blood:	n/a	chr13:76124478-76124489 chr13:76124728-76124737
44	REST	chr13:76123085-76124633	H1-neurons	neurons:	n/a	n/a
45	RELA	chr13:76123370-76124493	GM15510	blood:	n/a	n/a
46	POLR2A	chr13:76122911-76124542	K562	blood:	n/a	n/a
47	MAX	chr13:76123153-76124816	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
48	MAX	chr13:76123297-76124753	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
49	CEBPB	chr13:76123367-76124755	Hela-S3	cervix:	n/a	n/a
50	YY1	chr13:76123350-76124446	GM12878	blood:	n/a	chr13:76124012-76124023 chr13:76123942-76123956

No.	Distal block	Cell Line	Cell type
1	chr13:76124018..76125732-chr13:76125795..76127481,2	MCF-7	breast:
2	chr13:76124376..76126025-chr13:76132730..76134454,2	K562	blood:
3	chr13:76124076..76125593-chr13:76162284..76165016,2	K562	blood:
4	chr13:76111452..76114150-chr13:76122087..76125338,6	MCF-7	breast:
5	chr13:76055137..76056712-chr13:76122225..76124650,2	MCF-7	breast:
6	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:
7	chr13:76109717..76113590-chr13:76122029..76126081,5	MCF-7	breast:

Variant related genes	Relation type
COMMD6	TF binding region
ENSG00000136111	Chromatin interaction
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv900566	chr13:76123678-76153748	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900567	chr13:76123678-76156136	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv900568	chr13:76123678-76159104	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv900569	chr13:76123678-76167433	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv900570	chr13:76123678-76176680	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr13:76122800-76124800	Active TSS	Brain Anterior Caudate	brain
2	chr13:76122800-76124800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:76122800-76124800	Active TSS	A549	lung
4	chr13:76123000-76124400	Active TSS	Brain Cingulate Gyrus	brain
5	chr13:76123000-76124400	Active TSS	Brain Substantia Nigra	brain
6	chr13:76123000-76124400	Active TSS	Fetal Muscle Leg	muscle
7	chr13:76123000-76124600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:76123000-76124600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:76123000-76124600	Active TSS	Colonic Mucosa	Colon
10	chr13:76123000-76124600	Active TSS	Rectal Smooth Muscle	rectum
11	chr13:76123000-76124800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr13:76123000-76124800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:76123000-76124800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:76123000-76124800	Active TSS	Lung	lung
15	chr13:76123000-76124800	Active TSS	Stomach Smooth Muscle	stomach
16	chr13:76123000-76125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:76123000-76125200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:76123000-76125600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr13:76123200-76124400	Active TSS	Brain Hippocampus Middle	brain
20	chr13:76123200-76124400	Active TSS	Colon Smooth Muscle	Colon
21	chr13:76123200-76124400	Active TSS	Duodenum Mucosa	Duodenum
22	chr13:76123200-76124400	Active TSS	Fetal Stomach	stomach
23	chr13:76123200-76124600	Active TSS	Psoas Muscle	Psoas
24	chr13:76123200-76124600	Active TSS	NH-A	brain
25	chr13:76123200-76124800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr13:76123200-76124800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:76123200-76124800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:76123200-76124800	Active TSS	Aorta	Aorta
29	chr13:76123200-76124800	Active TSS	Brain Angular Gyrus	brain
30	chr13:76123200-76124800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr13:76123200-76124800	Active TSS	Left Ventricle	heart
32	chr13:76123200-76124800	Active TSS	Ovary	ovary
33	chr13:76123200-76124800	Active TSS	Right Atrium	heart
34	chr13:76123200-76124800	Active TSS	Stomach Mucosa	stomach
35	chr13:76123200-76124800	Active TSS	HSMMtube	muscle
36	chr13:76123200-76125000	Active TSS	Fetal Intestine Small	intestine
37	chr13:76123200-76125000	Active TSS	Right Ventricle	heart
38	chr13:76123200-76125400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:76123400-76124400	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr13:76123400-76124400	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr13:76123400-76124400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr13:76123400-76124400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr13:76123400-76124400	Active TSS	Fetal Brain Male	brain
44	chr13:76123400-76124400	Active TSS	Thymus	Thymus
45	chr13:76123400-76124400	Active TSS	Spleen	Spleen
46	chr13:76123400-76124600	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr13:76123400-76124600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:76123400-76124600	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr13:76123400-76124600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr13:76123400-76124600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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