Variant report

Variant	rs73541475
Chromosome Location	chr13:76124628-76124629
allele	G/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	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	TBP	chr13:76124514-76124714	K562	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	TBP	chr13:76124310-76124732	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr13:76123257-76124713	K562	blood:	n/a	n/a
11	JUND	chr13:76122952-76124844	SK-N-SH	brain:	n/a	chr13:76124478-76124489 chr13:76124728-76124737
12	ARID3A	chr13:76123347-76124671	HepG2	liver:	n/a	n/a
13	KAP1	chr13:76123283-76125049	U2OS	brain:	n/a	n/a
14	JUND	chr13:76124617-76124942	H1-hESC	embryonic stem cell:	n/a	chr13:76124889-76124901 chr13:76124728-76124737
15	CEBPB	chr13:76124467-76124704	HepG2	liver:	n/a	n/a
16	STAT3	chr13:76124393-76124715	MCF10A-Er-Src	breast:	n/a	n/a
17	NFYB	chr13:76124408-76124766	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr13:76123306-76124644	HEK293	kidney:	n/a	n/a
19	E2F4	chr13:76124363-76124775	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr13:76124385-76124747	IMR90	lung:	n/a	n/a
21	FOS	chr13:76124341-76124744	MCF10A-Er-Src	breast:	n/a	chr13:76124728-76124737
22	POLR2A	chr13:76123246-76124836	GM12891	blood:	n/a	n/a
23	HCFC1	chr13:76124491-76124639	K562	blood:	n/a	n/a
24	POLR2A	chr13:76123346-76124683	Hela-S3	cervix:	n/a	n/a
25	RUNX3	chr13:76123297-76124655	GM12878	blood:	n/a	n/a
26	ELF1	chr13:76124355-76124720	MCF-7	breast:	n/a	chr13:76124495-76124508
27	JUND	chr13:76123295-76124794	K562	blood:	n/a	chr13:76124478-76124489 chr13:76124728-76124737
28	REST	chr13:76123085-76124633	H1-neurons	neurons:	n/a	n/a
29	MAX	chr13:76123153-76124816	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
30	MAX	chr13:76123297-76124753	K562	blood:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
31	CEBPB	chr13:76123367-76124755	Hela-S3	cervix:	n/a	n/a
32	MTA3	chr13:76123208-76124637	GM12878	blood:	n/a	n/a
33	MAX	chr13:76123093-76124629	ECC-1	luminal epithelium:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
34	POLR2A	chr13:76123888-76124954	K562	blood:	n/a	n/a
35	FOS	chr13:76124365-76124667	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr13:76123275-76124851	MCF10A-Er-Src	breast:	n/a	n/a
37	PML	chr13:76123141-76124725	GM12878	blood:	n/a	n/a
38	POLR2A	chr13:76123282-76124700	Hela-S3	cervix:	n/a	n/a
39	NFYB	chr13:76124276-76124717	K562	blood:	n/a	n/a
40	RFX5	chr13:76123212-76124967	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr13:76123141-76125091	IMR90	lung:	n/a	n/a
42	GTF2F1	chr13:76123206-76124747	Hela-S3	cervix:	n/a	chr13:76124268-76124279
43	MAX	chr13:76123246-76124709	Hela-S3	cervix:	n/a	chr13:76123388-76123398 chr13:76123593-76123600 chr13:76123590-76123600
44	SIN3AK20	chr13:76123289-76124773	SK-N-SH	brain:	n/a	n/a
45	USF2	chr13:76124196-76124668	Hela-S3	cervix:	n/a	n/a
46	SMC3	chr13:76122920-76124822	SK-N-SH	brain:	n/a	chr13:76124293-76124303
47	CHD2	chr13:76123338-76124842	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr13:76123017-76124862	SK-N-SH	brain:	n/a	chr13:76124293-76124303 chr13:76124291-76124303
49	EGR1	chr13:76123268-76124895	HCT-116	colon:	n/a	chr13:76124728-76124752 chr13:76124521-76124536 chr13:76124496-76124505
50	POLR2A	chr13:76123280-76124667	K562	blood:	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
ENSG00000136111	Chromatin interaction
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2025349	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6650448	0.83[AFR][1000 genomes]
rs7995945	0.86[AFR][1000 genomes]
rs7996485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7996527	0.89[AFR][1000 genomes]
rs7997463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	chr13:76123000-76124800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr13:76123000-76124800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:76123000-76124800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:76123000-76124800	Active TSS	Lung	lung
8	chr13:76123000-76124800	Active TSS	Stomach Smooth Muscle	stomach
9	chr13:76123000-76125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:76123000-76125200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:76123000-76125600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr13:76123200-76124800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr13:76123200-76124800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:76123200-76124800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:76123200-76124800	Active TSS	Aorta	Aorta
16	chr13:76123200-76124800	Active TSS	Brain Angular Gyrus	brain
17	chr13:76123200-76124800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr13:76123200-76124800	Active TSS	Left Ventricle	heart
19	chr13:76123200-76124800	Active TSS	Ovary	ovary
20	chr13:76123200-76124800	Active TSS	Right Atrium	heart
21	chr13:76123200-76124800	Active TSS	Stomach Mucosa	stomach
22	chr13:76123200-76124800	Active TSS	HSMMtube	muscle
23	chr13:76123200-76125000	Active TSS	Fetal Intestine Small	intestine
24	chr13:76123200-76125000	Active TSS	Right Ventricle	heart
25	chr13:76123200-76125400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:76123400-76124800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr13:76123400-76124800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:76123400-76124800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:76123400-76124800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:76123400-76124800	Active TSS	Fetal Intestine Large	intestine
31	chr13:76123400-76124800	Active TSS	Fetal Kidney	kidney
32	chr13:76123400-76124800	Active TSS	NHDF-Ad	bronchial
33	chr13:76123400-76124800	Active TSS	NHEK	skin
34	chr13:76123400-76125000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr13:76123400-76125000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr13:76123400-76125000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr13:76123400-76125200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr13:76123400-76125400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr13:76123400-76125600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr13:76123400-76125600	Active TSS	K562	blood
41	chr13:76123400-76125800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr13:76123600-76124800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:76123600-76124800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:76123600-76124800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:76123600-76124800	Active TSS	Fetal Muscle Trunk	muscle
46	chr13:76123600-76124800	Active TSS	Placenta	Placenta
47	chr13:76123600-76124800	Active TSS	Pancreas	Pancrea
48	chr13:76123600-76124800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr13:76123600-76125000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr13:76123600-76125000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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