Variant report

Variant	rs73406033
Chromosome Location	chr15:49914162-49914163
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	chr15:49911978-49916148	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA1	chr15:49912693-49914184	PBDE	blood:	n/a	chr15:49914171-49914178
3	SIN3AK20	chr15:49912381-49914189	MCF-7	breast:	n/a	n/a
4	FOS	chr15:49914043-49914354	MCF10A-Er-Src	breast:	n/a	chr15:49914168-49914176 chr15:49914166-49914178 chr15:49914167-49914177
5	MAX	chr15:49912441-49914296	NB4	blood:	n/a	chr15:49913252-49913261 chr15:49913099-49913109
6	POLR2A	chr15:49912243-49914793	Hela-S3	cervix:	n/a	n/a
7	MYC	chr15:49912465-49914276	K562	blood:	n/a	chr15:49913252-49913261 chr15:49913099-49913109
8	TBP	chr15:49912370-49914444	Hela-S3	cervix:	n/a	n/a
9	GTF2F1	chr15:49912386-49914312	Hela-S3	cervix:	n/a	n/a
10	FOS	chr15:49914009-49914350	MCF10A-Er-Src	breast:	n/a	chr15:49914168-49914176 chr15:49914166-49914178 chr15:49914167-49914177
11	MYC	chr15:49912555-49914217	MCF10A-Er-Src	breast:	n/a	chr15:49913252-49913261 chr15:49913099-49913109
12	GABPA	chr15:49912057-49914243	MCF-7	breast:	n/a	n/a
13	POLR2A	chr15:49912265-49914453	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr15:49914011-49914416	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr15:49911990-49915525	SK-N-SH	brain:	n/a	n/a
16	FOS	chr15:49913910-49914452	MCF10A-Er-Src	breast:	n/a	chr15:49914168-49914176 chr15:49914166-49914178 chr15:49914167-49914177
17	CHD1	chr15:49912216-49914778	IMR90	lung:	n/a	n/a
18	STAT3	chr15:49914150-49914442	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr15:49912742-49914447	HepG2	liver:	n/a	n/a
20	ELF1	chr15:49912056-49914214	MCF-7	breast:	n/a	n/a
21	SMC3	chr15:49912376-49914403	Hela-S3	cervix:	n/a	chr15:49913154-49913164 chr15:49913195-49913209
22	HCFC1	chr15:49911005-49914797	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:49912336-49914954	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr15:49912339-49914461	Hela-S3	cervix:	n/a	n/a
25	FOS	chr15:49914010-49914324	MCF10A-Er-Src	breast:	n/a	chr15:49914168-49914176 chr15:49914166-49914178 chr15:49914167-49914177
26	POLR2A	chr15:49912449-49914435	IMR90	lung:	n/a	n/a
27	POLR2A	chr15:49912375-49916243	ProgFib	skin:	n/a	n/a
28	POLR2A	chr15:49912402-49914459	GM12891	blood:	n/a	n/a
29	POLR2A	chr15:49913600-49914439	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr15:49912624-49914211	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr15:49911535-49916197	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:49914042..49915068-chr15:50194363..50195235,4	MCF-7	breast:
2	chr15:49912192..49914242-chr15:50166228..50169006,2	MCF-7	breast:
3	chr15:49913123..49914709-chr15:50646540..50648629,2	K562	blood:
4	chr15:49913369..49915097-chr15:49925373..49927473,2	MCF-7	breast:
5	chr11:62430414..62433224-chr15:49912377..49914448,2	MCF-7	breast:
6	chr15:49101837..49104427-chr15:49910988..49914617,3	K562	blood:
7	chr15:49913331..49915025-chr17:60882380..60884331,2	MCF-7	breast:

Variant related genes	Relation type
FAM227B	TF binding region
ENSG00000244879	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000173838	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000104043	Chromatin interaction
ENSG00000259700	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000103995	Chromatin interaction
ENSG00000162194	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs60130190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60172656	0.81[AFR][1000 genomes]
rs60707261	0.92[AFR][1000 genomes]
rs61014555	0.92[AFR][1000 genomes]
rs73391027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73391029	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400258	0.81[AFR][1000 genomes]
rs73400271	0.89[AFR][1000 genomes]
rs73400275	0.89[AFR][1000 genomes]
rs73404129	0.92[AFR][1000 genomes]
rs73404137	0.92[AFR][1000 genomes]
rs73404155	0.89[AFR][1000 genomes]
rs73404164	0.91[AFR][1000 genomes]
rs73404198	0.92[AFR][1000 genomes]
rs73406010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406011	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406020	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406029	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406095	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569392	chr15:49789413-49926300	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49911200-49914200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr15:49911400-49916000	Active TSS	Stomach Smooth Muscle	stomach
3	chr15:49911600-49914600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:49911600-49914600	Active TSS	Right Atrium	heart
5	chr15:49911600-49916600	Active TSS	GM12878-XiMat	blood
6	chr15:49911800-49914200	Active TSS	Psoas Muscle	Psoas
7	chr15:49911800-49914800	Active TSS	K562	blood
8	chr15:49911800-49915200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:49912000-49914200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:49912000-49914200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr15:49912000-49914200	Active TSS	Right Ventricle	heart
12	chr15:49912000-49914400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr15:49912000-49914400	Active TSS	Aorta	Aorta
14	chr15:49912000-49914400	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr15:49912000-49914600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:49912000-49915000	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr15:49912200-49914200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:49912200-49914200	Active TSS	Colonic Mucosa	Colon
19	chr15:49912200-49914200	Active TSS	Fetal Intestine Large	intestine
20	chr15:49912200-49914200	Active TSS	Fetal Kidney	kidney
21	chr15:49912200-49914400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:49912200-49914400	Active TSS	Colon Smooth Muscle	Colon
23	chr15:49912200-49914400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:49912200-49914400	Active TSS	Fetal Muscle Trunk	muscle
25	chr15:49912200-49914600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr15:49912200-49914600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr15:49912200-49914600	Active TSS	Ovary	ovary
28	chr15:49912200-49914600	Active TSS	A549	lung
29	chr15:49912200-49914600	Active TSS	HSMMtube	muscle
30	chr15:49912200-49914800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr15:49912200-49914800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:49912200-49914800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:49912200-49914800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:49912200-49914800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:49912400-49914200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:49912400-49914200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr15:49912400-49914200	Active TSS	Fetal Intestine Small	intestine
38	chr15:49912400-49914200	Active TSS	Rectal Smooth Muscle	rectum
39	chr15:49912400-49914200	Active TSS	Stomach Mucosa	stomach
40	chr15:49912400-49914200	Active TSS	HepG2	liver
41	chr15:49912400-49914200	Active TSS	HMEC	breast
42	chr15:49912400-49914200	Active TSS	HSMM	muscle
43	chr15:49912400-49914200	Active TSS	NHEK	skin
44	chr15:49912400-49914400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr15:49912400-49914400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr15:49912400-49914400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:49912400-49914400	Active TSS	Brain Germinal Matrix	brain
48	chr15:49912400-49914400	Active TSS	Fetal Stomach	stomach
49	chr15:49912400-49914600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:49912400-49914800	Active TSS	NHLF	lung

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