Variant report

Variant	rs535105760
Chromosome Location	chr13:76124511-76124512
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	JUND	chr13:76124393-76124677	HepG2	liver:	n/a	chr13:76124478-76124489
4	POLR2A	chr13:76123155-76124625	PBDE	blood:	n/a	n/a
5	RCOR1	chr13:76123338-76124727	Hela-S3	cervix:	n/a	n/a
6	CHD1	chr13:76122548-76124962	IMR90	lung:	n/a	n/a
7	KAP1	chr13:76123134-76124676	HEK293	kidney:	n/a	n/a
8	TCF7L2	chr13:76123340-76124698	HCT-116	colon:	n/a	n/a
9	MAFK	chr13:76123351-76124588	Hela-S3	cervix:	n/a	n/a
10	TBP	chr13:76124310-76124732	Hela-S3	cervix:	n/a	n/a
11	SIN3AK20	chr13:76123257-76124713	K562	blood:	n/a	n/a
12	POLR2A	chr13:76123312-76124620	K562	blood:	n/a	n/a
13	JUND	chr13:76122952-76124844	SK-N-SH	brain:	n/a	chr13:76124478-76124489 chr13:76124728-76124737
14	ARID3A	chr13:76123347-76124671	HepG2	liver:	n/a	n/a
15	KAP1	chr13:76123283-76125049	U2OS	brain:	n/a	n/a
16	CEBPB	chr13:76124467-76124704	HepG2	liver:	n/a	n/a
17	MXI1	chr13:76123348-76124544	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT3	chr13:76124393-76124715	MCF10A-Er-Src	breast:	n/a	n/a
19	MAZ	chr13:76123317-76124575	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
20	CTCF	chr13:76124460-76124610	AG04449	skin:	n/a	n/a
21	MAX	chr13:76123330-76124615	Hela-S3	cervix:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
22	NFYB	chr13:76124408-76124766	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr13:76123306-76124644	HEK293	kidney:	n/a	n/a
24	EP300	chr13:76123251-76124607	GM12878	blood:	n/a	chr13:76124094-76124108
25	POLR2A	chr13:76123306-76124554	GM18505	blood:	n/a	n/a
26	E2F4	chr13:76124363-76124775	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr13:76123289-76124573	Hela-S3	cervix:	n/a	n/a
28	ELK1	chr13:76123186-76124610	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr13:76124385-76124747	IMR90	lung:	n/a	n/a
30	FOS	chr13:76124341-76124744	MCF10A-Er-Src	breast:	n/a	chr13:76124728-76124737
31	RAD21	chr13:76124174-76124605	Hela-S3	cervix:	n/a	chr13:76124293-76124303 chr13:76124291-76124303
32	POLR2A	chr13:76123246-76124836	GM12891	blood:	n/a	n/a
33	HCFC1	chr13:76124491-76124639	K562	blood:	n/a	n/a
34	POLR2A	chr13:76123346-76124683	Hela-S3	cervix:	n/a	n/a
35	RUNX3	chr13:76123297-76124655	GM12878	blood:	n/a	n/a
36	ELF1	chr13:76124355-76124720	MCF-7	breast:	n/a	chr13:76124495-76124508
37	JUND	chr13:76123295-76124794	K562	blood:	n/a	chr13:76124478-76124489 chr13:76124728-76124737
38	REST	chr13:76123085-76124633	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr13:76122911-76124542	K562	blood:	n/a	n/a
40	MAX	chr13:76123153-76124816	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
41	MAX	chr13:76123297-76124753	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
42	CEBPB	chr13:76123367-76124755	Hela-S3	cervix:	n/a	n/a
43	MTA3	chr13:76123208-76124637	GM12878	blood:	n/a	n/a
44	MAX	chr13:76123093-76124629	ECC-1	luminal epithelium:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
45	POLR2A	chr13:76123888-76124954	K562	blood:	n/a	n/a
46	HA-E2F1	chr13:76123305-76124608	MCF-7	breast:	n/a	n/a
47	FOS	chr13:76124365-76124667	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr13:76123275-76124851	MCF10A-Er-Src	breast:	n/a	n/a
49	PML	chr13:76123141-76124725	GM12878	blood:	n/a	n/a
50	POLR2A	chr13:76123282-76124700	Hela-S3	cervix:	n/a	n/a

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
ENSG00000188243	Chromatin interaction
ENSG00000136111	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	chr13:76123000-76124600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:76123000-76124600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:76123000-76124600	Active TSS	Colonic Mucosa	Colon
7	chr13:76123000-76124600	Active TSS	Rectal Smooth Muscle	rectum
8	chr13:76123000-76124800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr13:76123000-76124800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:76123000-76124800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:76123000-76124800	Active TSS	Lung	lung
12	chr13:76123000-76124800	Active TSS	Stomach Smooth Muscle	stomach
13	chr13:76123000-76125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:76123000-76125200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:76123000-76125600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr13:76123200-76124600	Active TSS	Psoas Muscle	Psoas
17	chr13:76123200-76124600	Active TSS	NH-A	brain
18	chr13:76123200-76124800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr13:76123200-76124800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:76123200-76124800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:76123200-76124800	Active TSS	Aorta	Aorta
22	chr13:76123200-76124800	Active TSS	Brain Angular Gyrus	brain
23	chr13:76123200-76124800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr13:76123200-76124800	Active TSS	Left Ventricle	heart
25	chr13:76123200-76124800	Active TSS	Ovary	ovary
26	chr13:76123200-76124800	Active TSS	Right Atrium	heart
27	chr13:76123200-76124800	Active TSS	Stomach Mucosa	stomach
28	chr13:76123200-76124800	Active TSS	HSMMtube	muscle
29	chr13:76123200-76125000	Active TSS	Fetal Intestine Small	intestine
30	chr13:76123200-76125000	Active TSS	Right Ventricle	heart
31	chr13:76123200-76125400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:76123400-76124600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr13:76123400-76124600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:76123400-76124600	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr13:76123400-76124600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr13:76123400-76124600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr13:76123400-76124600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:76123400-76124600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:76123400-76124600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr13:76123400-76124600	Active TSS	Esophagus	oesophagus
41	chr13:76123400-76124600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr13:76123400-76124600	Active TSS	Fetal Heart	heart
43	chr13:76123400-76124600	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr13:76123400-76124600	Active TSS	GM12878-XiMat	blood
45	chr13:76123400-76124600	Active TSS	Hela-S3	cervix
46	chr13:76123400-76124600	Active TSS	HSMM	muscle
47	chr13:76123400-76124600	Active TSS	NHLF	lung
48	chr13:76123400-76124800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr13:76123400-76124800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:76123400-76124800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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