Variant report

Variant	rs61440104
Chromosome Location	chr15:41168417-41168418
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	STAT3	chr15:41168326-41168861	MCF10A-Er-Src	breast:	n/a	chr15:41168751-41168759 chr15:41168438-41168449 chr15:41168717-41168729
2	TFAP2C	chr15:41168127-41169175	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr15:41168214-41168891	MCF10A-Er-Src	breast:	n/a	chr15:41168751-41168759 chr15:41168438-41168449 chr15:41168717-41168729
4	RFX5	chr15:41168190-41168854	Hela-S3	cervix:	n/a	n/a
5	FOS	chr15:41168123-41168914	MCF10A-Er-Src	breast:	n/a	chr15:41168893-41168905
6	MAX	chr15:41168230-41168561	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr15:41168163-41168582	Hela-S3	cervix:	n/a	n/a
8	TCF7L2	chr15:41167997-41168803	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr15:41168249-41168445	Hela-S3	cervix:	n/a	n/a
10	MYC	chr15:41168142-41168788	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr15:41168206-41168887	MCF10A-Er-Src	breast:	n/a	n/a
12	RCOR1	chr15:41168111-41168872	Hela-S3	cervix:	n/a	n/a
13	NFYA	chr15:41168157-41168448	Hela-S3	cervix:	n/a	n/a
14	E2F4	chr15:41168330-41168486	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr15:41168162-41168897	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr15:41168130-41168945	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr15:41168120-41168931	MCF10A-Er-Src	breast:	n/a	chr15:41168893-41168905
18	MAX	chr15:41168070-41168726	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr15:41168225-41168564	Hela-S3	cervix:	n/a	n/a
20	EP300	chr15:41168200-41168492	Hela-S3	cervix:	n/a	n/a
21	FOS	chr15:41168247-41168907	MCF10A-Er-Src	breast:	n/a	chr15:41168893-41168905
22	MYC	chr15:41168176-41168795	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr15:41168130-41168915	MCF10A-Er-Src	breast:	n/a	chr15:41168751-41168759 chr15:41168438-41168449 chr15:41168717-41168729
24	BRCA1	chr15:41168247-41168940	Hela-S3	cervix:	n/a	n/a
25	TFAP2A	chr15:41168118-41168949	Hela-S3	cervix:	n/a	chr15:41168801-41168812 chr15:41168413-41168428 chr15:41168801-41168812
26	GTF2F1	chr15:41168205-41168492	Hela-S3	cervix:	n/a	n/a
27	TBP	chr15:41168220-41168505	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr15:41168185-41168936	MCF10A-Er-Src	breast:	n/a	chr15:41168751-41168759 chr15:41168438-41168449 chr15:41168717-41168729

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41164565..41167944-chr15:41168228..41172256,5	K562	blood:
2	chr15:41162038..41163598-chr15:41167712..41169410,2	K562	blood:

Variant related genes	Relation type
RHOV	TF binding region
ENSG00000264256	Chromatin interaction
ENSG00000104140	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60163948	1.00[ASN][1000 genomes]
rs8040579	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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 target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41166800-41168600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:41166800-41169200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:41166800-41170400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:41166800-41170800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:41166800-41170800	Weak transcription	Stomach Mucosa	stomach
6	chr15:41166800-41172400	Enhancers	Placenta	Placenta
7	chr15:41167000-41170400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:41167000-41171000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:41167000-41171000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:41167000-41171000	Weak transcription	A549	lung
11	chr15:41167000-41171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:41167200-41170000	Weak transcription	GM12878-XiMat	blood
13	chr15:41167400-41169600	Weak transcription	Fetal Brain Male	brain
14	chr15:41168000-41169400	Enhancers	NHEK	skin
15	chr15:41168200-41168600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:41168200-41168800	Enhancers	K562	blood
17	chr15:41168200-41169000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:41168200-41169000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr15:41168200-41169200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:41168200-41169200	Enhancers	Esophagus	oesophagus
21	chr15:41168200-41169200	Flanking Active TSS	Hela-S3	cervix
22	chr15:41168200-41169200	Enhancers	HMEC	breast
23	chr15:41168400-41171600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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