Variant report

Variant	rs791613
Chromosome Location	chr7:127877135-127877136
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	MYC	chr7:127877089-127877530	MCF10A-Er-Src	breast:	n/a	chr7:127877174-127877184
2	FOS	chr7:127877055-127877529	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr7:127876931-127877550	NB4	blood:	n/a	chr7:127877174-127877184
4	FOXA2	chr7:127876854-127877492	A549	lung:	n/a	n/a
5	USF1	chr7:127877084-127877243	HepG2	liver:	n/a	chr7:127877173-127877184
6	STAT3	chr7:127876974-127877413	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr7:127877024-127877311	MCF10A-Er-Src	breast:	n/a	n/a
8	YY1	chr7:127877115-127877392	K562	blood:	n/a	n/a
9	USF1	chr7:127877049-127877390	H1-hESC	embryonic stem cell:	n/a	chr7:127877173-127877184
10	STAT3	chr7:127876964-127877439	MCF10A-Er-Src	breast:	n/a	n/a
11	UBTF	chr7:127877073-127877404	K562	blood:	n/a	n/a
12	FOXA1	chr7:127877022-127877378	T-47D	breast:	n/a	n/a
13	CBX3	chr7:127876814-127877569	K562	blood:	n/a	n/a
14	FOXA2	chr7:127876979-127877489	A549	lung:	n/a	n/a
15	GABPA	chr7:127877013-127877401	K562	blood:	n/a	n/a
16	CEBPB	chr7:127877024-127877338	HepG2	liver:	n/a	chr7:127877088-127877096
17	SMC3	chr7:127877079-127877216	Hela-S3	cervix:	n/a	n/a
18	MAX	chr7:127876757-127877438	K562	blood:	n/a	chr7:127876830-127876839 chr7:127877174-127877184
19	CEBPB	chr7:127876965-127877363	K562	blood:	n/a	chr7:127877088-127877096
20	TRIM28	chr7:127876917-127877533	K562	blood:	n/a	n/a
21	TBL1XR1	chr7:127876967-127877364	K562	blood:	n/a	n/a
22	JUND	chr7:127876969-127877504	K562	blood:	n/a	n/a
23	MYC	chr7:127877018-127877457	MCF10A-Er-Src	breast:	n/a	chr7:127877174-127877184
24	MYC	chr7:127876819-127877471	NB4	blood:	n/a	chr7:127876830-127876839 chr7:127877174-127877184
25	MAX	chr7:127877096-127877196	Hela-S3	cervix:	n/a	chr7:127877174-127877184
26	EP300	chr7:127876916-127877436	K562	blood:	n/a	n/a
27	USF1	chr7:127877057-127877272	A549	lung:	n/a	chr7:127877173-127877184
28	CEBPB	chr7:127877007-127877405	A549	lung:	n/a	chr7:127877088-127877096
29	FOS	chr7:127877020-127877666	MCF10A-Er-Src	breast:	n/a	n/a
30	NFYB	chr7:127877036-127877356	GM12878	blood:	n/a	n/a
31	CEBPB	chr7:127876946-127877437	MCF-7	breast:	n/a	chr7:127877088-127877096
32	FOXA1	chr7:127876972-127877537	HepG2	liver:	n/a	n/a
33	FOXP2	chr7:127877040-127877448	PFSK-1	brain:	n/a	n/a
34	USF2	chr7:127877113-127877257	K562	blood:	n/a	chr7:127877173-127877184
35	RCOR1	chr7:127876906-127877486	K562	blood:	n/a	n/a
36	HCFC1	chr7:127877014-127877430	K562	blood:	n/a	n/a
37	FOXA1	chr7:127876918-127877388	HepG2	liver:	n/a	n/a
38	CEBPB	chr7:127876977-127877339	A549	lung:	n/a	chr7:127877088-127877096
39	STAT3	chr7:127876932-127877426	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr7:127877060-127877210	SAEC	small airway:	n/a	n/a
41	CEBPB	chr7:127876954-127877461	IMR90	lung:	n/a	chr7:127877088-127877096
42	ATF1	chr7:127876915-127877457	K562	blood:	n/a	n/a
43	FOXP2	chr7:127876979-127877361	PFSK-1	brain:	n/a	n/a
44	MAFK	chr7:127877121-127877379	HepG2	liver:	n/a	n/a
45	USF1	chr7:127877067-127877329	A549	lung:	n/a	chr7:127877173-127877184
46	MAFK	chr7:127877091-127877396	HepG2	liver:	n/a	n/a
47	CTCF	chr7:127877087-127877238	K562	blood:	n/a	n/a
48	USF2	chr7:127877052-127877289	HepG2	liver:	n/a	chr7:127877173-127877184
49	TEAD4	chr7:127876827-127877531	K562	blood:	n/a	n/a
50	POLR2A	chr7:127876777-127877558	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127874763..127879327-chr7:127896549..127902097,6	MCF-7	breast:
2	chr7:127874560..127877136-chr7:127888514..127890542,2	K562	blood:
3	chr7:127875949..127878533-chr7:127881337..127883773,2	K562	blood:
4	chr7:127870227..127873605-chr7:127875454..127877245,3	K562	blood:
5	chr7:127804591..127807479-chr7:127875712..127877601,2	K562	blood:
6	chr7:127874560..127877136-chr7:127887540..127890542,3	K562	blood:
7	chr7:127032256..127035129-chr7:127876340..127878786,2	K562	blood:

Variant related genes	Relation type
LEP	TF binding region
ENSG00000048405	Chromatin interaction
ENSG00000174697	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1349398	1.00[AMR][1000 genomes]
rs791610	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs791618	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs791619	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127874400-127877600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:127874600-127877200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr7:127874800-127877200	Enhancers	Adipose Nuclei	Adipose
4	chr7:127875600-127877200	Active TSS	Primary B cells from cord blood	blood
5	chr7:127875800-127878200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:127876000-127877200	Enhancers	Placenta	Placenta
7	chr7:127876000-127878400	Enhancers	HMEC	breast
8	chr7:127876200-127877200	Enhancers	Esophagus	oesophagus
9	chr7:127876200-127877400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:127876200-127877400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:127876200-127877600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:127876200-127877800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:127876200-127877800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:127876200-127877800	Enhancers	HSMM	muscle
15	chr7:127876200-127878000	Enhancers	NHEK	skin
16	chr7:127876400-127877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:127876400-127877200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:127876400-127878200	Enhancers	NHDF-Ad	bronchial
19	chr7:127876600-127877400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:127876600-127877400	Enhancers	Gastric	stomach
21	chr7:127876600-127877400	Enhancers	NHLF	lung
22	chr7:127876600-127877600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:127876600-127877600	Enhancers	Hela-S3	cervix
24	chr7:127876800-127877200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:127876800-127877200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:127876800-127877200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:127876800-127877200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:127876800-127877400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr7:127876800-127877400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:127876800-127877400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:127876800-127877600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:127876800-127877600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:127876800-127877600	Enhancers	K562	blood
34	chr7:127876800-127877800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:127876800-127877800	Enhancers	HSMMtube	muscle
36	chr7:127876800-127878200	Enhancers	Osteobl	bone
37	chr7:127877000-127877200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:127877000-127877200	Enhancers	Right Atrium	heart
39	chr7:127877000-127877200	Enhancers	A549	lung
40	chr7:127877000-127877400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:127877000-127877400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:127877000-127877400	Bivalent Enhancer	HepG2	liver
43	chr7:127877000-127877400	Enhancers	NH-A	brain
44	chr7:127877000-127877600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:127877000-127877600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:127877000-127877600	Enhancers	Dnd41	blood

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