Variant report

Variant	rs35510581
Chromosome Location	chr7:65578777-65578778
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	HEY1	chr7:65578649-65578998	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:65578560-65580741	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:65578737-65578987	HepG2	liver:	n/a	chr7:65578857-65578868
4	HNF4A	chr7:65578735-65578897	HepG2	liver:	n/a	n/a
5	TEAD4	chr7:65578580-65579177	HepG2	liver:	n/a	n/a
6	HDAC2	chr7:65578737-65578980	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr7:65578721-65578885	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:65578740-65578995	HepG2	liver:	n/a	chr7:65578857-65578868
9	ZEB1	chr7:65578593-65579124	HepG2	liver:	n/a	n/a
10	CEBPB	chr7:65578744-65579134	HepG2	liver:	n/a	chr7:65578857-65578868
11	MYBL2	chr7:65578633-65579100	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:65578762-65579115	HepG2	liver:	n/a	n/a
13	SP1	chr7:65578703-65579007	HepG2	liver:	n/a	n/a
14	HEY1	chr7:65578730-65579143	K562	blood:	n/a	n/a
15	CEBPB	chr7:65578740-65578924	HepG2	liver:	n/a	chr7:65578857-65578868
16	HNF4A	chr7:65578738-65579043	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:46130134..46132159-chr7:65578645..65581188,2	MCF-7	breast:
2	chr7:65550364..65554176-chr7:65578691..65580881,4	K562	blood:
3	chr7:65550364..65553168-chr7:65578691..65580268,2	K562	blood:
4	chr7:65540799..65542994-chr7:65578683..65581272,2	MCF-7	breast:
5	chr7:65578700..65580373-chr7:65590797..65592694,2	MCF-7	breast:

Variant related genes	Relation type
CRCP	TF binding region
ENSG00000126522	Chromatin interaction
ENSG00000241258	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000249319	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34888281	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35072105	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4433015	0.85[AMR][1000 genomes];0.80[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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs35510581	RP4-756H11.3	cis	Thyroid	GTEx
rs35510581	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs35510581	RP4-756H11.3	cis	lung	GTEx
rs35510581	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs35510581	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs35510581	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs35510581	RP4-756H11.3	cis	Artery Tibial	GTEx
rs35510581	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs35510581	RP4-756H11.3	cis	Stomach	GTEx
rs35510581	RP4-756H11.3	cis	Whole Blood	GTEx
rs35510581	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs35510581	RP4-756H11.3	cis	Artery Aorta	GTEx
rs35510581	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65565200-65579800	Weak transcription	Spleen	Spleen
2	chr7:65565600-65579200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:65565800-65579000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:65565800-65579000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:65565800-65579000	Weak transcription	Fetal Stomach	stomach
6	chr7:65565800-65579400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:65566000-65579000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:65566200-65579000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:65566200-65579000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:65566200-65579000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:65566200-65579200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:65572000-65579000	Weak transcription	Brain Angular Gyrus	brain
13	chr7:65573000-65579400	Weak transcription	HSMMtube	muscle
14	chr7:65573800-65578800	Weak transcription	Hela-S3	cervix
15	chr7:65573800-65578800	Weak transcription	HepG2	liver
16	chr7:65574200-65579400	Weak transcription	Fetal Brain Female	brain
17	chr7:65574600-65579400	Weak transcription	Left Ventricle	heart
18	chr7:65575400-65579400	Weak transcription	Stomach Mucosa	stomach
19	chr7:65575600-65578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:65576200-65578800	Weak transcription	Liver	Liver
21	chr7:65576400-65578800	Weak transcription	A549	lung
22	chr7:65576400-65578800	Weak transcription	K562	blood
23	chr7:65576400-65579000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:65576400-65579400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:65576600-65578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:65576600-65579000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:65576600-65579000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:65576600-65579000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:65576600-65579000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:65576600-65579000	Weak transcription	HMEC	breast
31	chr7:65576600-65579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:65576600-65579200	Weak transcription	Fetal Intestine Small	intestine
33	chr7:65576600-65579400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:65576600-65579400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:65576800-65578800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:65576800-65578800	Weak transcription	NHLF	lung
37	chr7:65576800-65579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:65576800-65579000	Weak transcription	HSMM	muscle
39	chr7:65576800-65579000	Weak transcription	NHEK	skin
40	chr7:65576800-65579000	Weak transcription	Osteobl	bone
41	chr7:65576800-65579200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:65576800-65579400	Weak transcription	NH-A	brain
43	chr7:65577400-65578800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:65577600-65578800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:65577600-65579000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:65578000-65579400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:65578400-65578800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:65578600-65578800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:65578600-65578800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr7:65578600-65579400	Enhancers	NHDF-Ad	bronchial

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