Variant report

Variant	rs55780403
Chromosome Location	chr7:112075488-112075489
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	REST	chr7:112075155-112075730	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr7:112075063-112075770	SK-N-SH	brain:	n/a	n/a
3	JUND	chr7:112075290-112075556	HepG2	liver:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075399-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
4	FOS	chr7:112075016-112075562	MCF10A-Er-Src	breast:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075399-112075410 chr7:112075401-112075410
5	TCF12	chr7:112074805-112075933	SK-N-SH	brain:	n/a	n/a
6	REST	chr7:112074937-112075881	H1-neurons	neurons:	n/a	n/a
7	SIN3AK20	chr7:112075207-112075574	SK-N-SH	brain:	n/a	n/a
8	RCOR1	chr7:112075236-112075509	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr7:112075185-112075563	SK-N-SH_RA	brain:	n/a	n/a
10	MAX	chr7:112075144-112075824	SK-N-SH	brain:	n/a	chr7:112075401-112075410 chr7:112075400-112075409
11	JUND	chr7:112074763-112075930	SK-N-SH	brain:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075399-112075410 chr7:112075402-112075409 chr7:112075873-112075885 chr7:112075397-112075408 chr7:112075401-112075410
12	FOSL2	chr7:112075216-112075695	SK-N-SH	brain:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
13	GATA3	chr7:112074937-112075740	A549	lung:	n/a	n/a
14	RCOR1	chr7:112075484-112075528	K562	blood:	n/a	n/a
15	EP300	chr7:112075086-112075726	SK-N-SH_RA	brain:	n/a	chr7:112075401-112075410 chr7:112075400-112075409
16	JUND	chr7:112075324-112075507	H1-hESC	embryonic stem cell:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075399-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
17	GATA2	chr7:112075059-112075815	SH-SY5Y	brain:	n/a	n/a
18	YY1	chr7:112075145-112075617	SK-N-SH_RA	brain:	n/a	n/a
19	JUND	chr7:112074994-112075859	SK-N-SH	brain:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075399-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
20	MEF2A	chr7:112074861-112075763	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr7:112075135-112075775	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr7:112075069-112075850	H1-neurons	neurons:	n/a	n/a
23	FOSL2	chr7:112075080-112075657	A549	lung:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
24	FOS	chr7:112075016-112075537	MCF10A-Er-Src	breast:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075399-112075410 chr7:112075401-112075410
25	TCF12	chr7:112074750-112075955	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr7:112074946-112075967	SK-N-SH	brain:	n/a	n/a
27	FOS	chr7:112075214-112075538	HUVEC	blood vessel:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075399-112075410 chr7:112075401-112075410
28	CEBPB	chr7:112074984-112075539	Hela-S3	cervix:	n/a	n/a
29	NFIC	chr7:112074711-112075805	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr7:112074890-112075914	SK-N-SH	brain:	n/a	n/a
31	JUN	chr7:112075123-112075606	Hela-S3	cervix:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
32	TAF1	chr7:112075201-112075529	SK-N-SH	brain:	n/a	n/a
33	FOS	chr7:112075246-112075528	MCF10A-Er-Src	breast:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075399-112075410 chr7:112075401-112075410
34	EP300	chr7:112074682-112075887	SK-N-SH	brain:	n/a	chr7:112075401-112075410 chr7:112075400-112075409
35	GATA3	chr7:112074982-112075748	SH-SY5Y	brain:	n/a	n/a
36	JUND	chr7:112075025-112075603	Hela-S3	cervix:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075399-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
37	TEAD4	chr7:112074955-112075819	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr7:112075208-112075549	SK-N-SH	brain:	n/a	n/a
39	PBX3	chr7:112074926-112075832	SK-N-SH	brain:	n/a	n/a
40	EP300	chr7:112075121-112075704	SK-N-SH_RA	brain:	n/a	chr7:112075401-112075410 chr7:112075400-112075409
41	CEBPB	chr7:112074976-112075509	A549	lung:	n/a	n/a
42	GATA3	chr7:112074829-112075910	SK-N-SH	brain:	n/a	n/a
43	YY1	chr7:112075151-112075579	SK-N-SH_RA	brain:	n/a	n/a
44	JUND	chr7:112074915-112075869	SK-N-SH	brain:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075399-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
45	SIN3AK20	chr7:112075124-112075676	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr7:112074882-112075886	SK-N-SH	brain:	n/a	n/a
47	FOSL2	chr7:112074814-112075846	SK-N-SH	brain:	n/a	chr7:112075401-112075409 chr7:112075399-112075411 chr7:112075400-112075410 chr7:112075402-112075409 chr7:112075397-112075408 chr7:112075401-112075410
48	MYC	chr7:112075353-112075504	MCF10A-Er-Src	breast:	n/a	chr7:112075401-112075410 chr7:112075400-112075409
49	CEBPB	chr7:112074976-112075559	IMR90	lung:	n/a	n/a
50	EP300	chr7:112074920-112075825	SK-N-SH	brain:	n/a	chr7:112075401-112075410 chr7:112075400-112075409

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
2	chr7:112070004..112076448-chr7:112089182..112092278,11	K562	blood:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11973327	1.00[EUR][1000 genomes]
rs11976430	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11983716	1.00[EUR][1000 genomes]
rs55731771	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61142815	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73717530	1.00[AMR][1000 genomes]
rs73717535	1.00[AMR][1000 genomes]
rs73717548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
2	chr7:112064200-112088400	Weak transcription	Psoas Muscle	Psoas
3	chr7:112065800-112079800	Weak transcription	Pancreas	Pancrea
4	chr7:112068600-112077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:112071000-112077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:112073800-112082400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:112074000-112077200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:112074800-112075600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:112074800-112075600	Enhancers	HSMMtube	muscle
10	chr7:112074800-112075800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:112074800-112075800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:112074800-112075800	Enhancers	NH-A	brain
13	chr7:112074800-112076000	Enhancers	NHEK	skin
14	chr7:112075000-112075600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:112075000-112075600	Enhancers	HMEC	breast
16	chr7:112075000-112075800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:112075000-112075800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:112075000-112075800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:112075000-112075800	Enhancers	HSMM	muscle
20	chr7:112075200-112075600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:112075200-112075800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:112075200-112075800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:112075200-112075800	Enhancers	Rectal Smooth Muscle	rectum
24	chr7:112075400-112075600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr7:112075400-112075600	Enhancers	Hela-S3	cervix
26	chr7:112075400-112075800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:112075400-112076600	Enhancers	A549	lung

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