Variant report

Variant	rs67397473
Chromosome Location	chr7:65633305-65633306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr7:65632739-65633474	IMR90	lung:	n/a	n/a
2	GATA2	chr7:65632966-65633320	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr7:65632762-65633606	SK-N-SH	brain:	n/a	n/a
4	MYC	chr7:65633119-65633402	MCF10A-Er-Src	breast:	n/a	n/a
5	SP1	chr7:65632829-65633358	A549	lung:	n/a	n/a
6	FOXA2	chr7:65633141-65633328	HepG2	liver:	n/a	n/a
7	FOXA1	chr7:65632983-65633425	HepG2	liver:	n/a	n/a
8	NFIC	chr7:65632689-65633431	SK-N-SH	brain:	n/a	n/a
9	FOXA2	chr7:65632871-65633362	A549	lung:	n/a	n/a
10	RAD21	chr7:65632924-65633343	IMR90	lung:	n/a	n/a
11	CEBPB	chr7:65632992-65633357	IMR90	lung:	n/a	n/a
12	ARID3A	chr7:65632999-65633320	HepG2	liver:	n/a	n/a
13	FOXA1	chr7:65633061-65633353	T-47D	breast:	n/a	n/a
14	FOS	chr7:65633057-65633310	MCF10A-Er-Src	breast:	n/a	n/a
15	SPI1	chr7:65632974-65633412	HL-60	blood:	n/a	n/a
16	NFIC	chr7:65632876-65633403	ECC-1	luminal epithelium:	n/a	n/a
17	FOXA1	chr7:65632999-65633422	HepG2	liver:	n/a	n/a
18	NFIC	chr7:65632887-65633473	SK-N-SH	brain:	n/a	n/a
19	E2F4	chr7:65633107-65633438	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA3	chr7:65632917-65633473	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr7:65632938-65633410	ECC-1	luminal epithelium:	n/a	n/a
22	RCOR1	chr7:65633007-65633320	Hela-S3	cervix:	n/a	n/a
23	MAFK	chr7:65633006-65633349	IMR90	lung:	n/a	n/a
24	SPI1	chr7:65633115-65633319	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65625074..65627224-chr7:65631943..65634316,2	K562	blood:
2	chr7:65633079..65635754-chr7:65815405..65818400,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234185	TF binding region
ENSG00000169902	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10950024	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950025	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10950027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950028	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10950029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760805	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11767833	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12666485	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12671834	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12673308	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160636	0.80[ASN][1000 genomes]
rs160641	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs160645	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs160647	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17138089	0.88[ASN][1000 genomes]
rs17138149	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs221986	0.88[ASN][1000 genomes]
rs2451953	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2460427	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2465121	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28815324	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2946580	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs313817	0.91[ASN][1000 genomes]
rs313818	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313823	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313828	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs313830	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs316305	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316306	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316316	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316320	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316323	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316324	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316328	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs400767	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4441996	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718325	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6460276	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6460281	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67302640	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67688847	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67775320	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6960870	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73136346	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73142233	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73142245	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142265	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73376394	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73376401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73378304	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7782212	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783727	0.82[ASN][1000 genomes]
rs7786728	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7786735	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787063	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	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
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs67397473	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs67397473	GS1-124K5.11	cis	Thyroid	GTEx
rs67397473	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs67397473	GS1-124K5.4	cis	Artery Aorta	GTEx
rs67397473	GTF2IRD1P1	cis	Thyroid	GTEx
rs67397473	RNU6-96P	cis	Thyroid	GTEx
rs67397473	GS1-124K5.4	cis	Stomach	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65612000-65635400	Weak transcription	Fetal Kidney	kidney
2	chr7:65618200-65635400	Weak transcription	Esophagus	oesophagus
3	chr7:65618200-65635600	Weak transcription	Right Ventricle	heart
4	chr7:65619000-65635200	Weak transcription	Spleen	Spleen
5	chr7:65619000-65635400	Weak transcription	Pancreas	Pancrea
6	chr7:65619000-65635600	Weak transcription	HMEC	breast
7	chr7:65619000-65635800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:65620800-65635400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:65622600-65635600	Weak transcription	Stomach Mucosa	stomach
10	chr7:65623600-65635400	Weak transcription	Colonic Mucosa	Colon
11	chr7:65623600-65635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:65623800-65635400	Weak transcription	Adipose Nuclei	Adipose
13	chr7:65623800-65635400	Weak transcription	Lung	lung
14	chr7:65623800-65635400	Weak transcription	Ovary	ovary
15	chr7:65623800-65635400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:65623800-65635400	Weak transcription	HSMMtube	muscle
17	chr7:65624000-65634800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:65624000-65634800	Weak transcription	Left Ventricle	heart
19	chr7:65624400-65635200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:65624400-65635400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:65624600-65635600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:65625800-65635400	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:65626400-65637600	Weak transcription	Fetal Brain Female	brain
24	chr7:65632400-65633400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:65632400-65633400	Enhancers	Hela-S3	cervix
26	chr7:65632400-65633400	Enhancers	HUVEC	blood vessel
27	chr7:65632600-65633400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:65632600-65633400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:65632600-65633400	Enhancers	A549	lung
30	chr7:65632800-65633400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:65632800-65633400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:65632800-65633400	Enhancers	Brain Substantia Nigra	brain
33	chr7:65632800-65633400	Enhancers	NH-A	brain
34	chr7:65632800-65633400	Enhancers	Osteobl	bone
35	chr7:65633000-65633400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:65633000-65633400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:65633000-65633400	Enhancers	Brain Germinal Matrix	brain
38	chr7:65633000-65633400	Enhancers	HepG2	liver
39	chr7:65633000-65633400	Enhancers	K562	blood
40	chr7:65633000-65635400	Weak transcription	Fetal Stomach	stomach
41	chr7:65633000-65635400	Weak transcription	Right Atrium	heart
42	chr7:65633000-65635400	Weak transcription	NHDF-Ad	bronchial
43	chr7:65633200-65633600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:65633200-65634600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:65633200-65635200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:65633200-65635400	Weak transcription	Fetal Lung	lung
47	chr7:65633200-65635400	Weak transcription	NHLF	lung
48	chr7:65633200-65635600	Weak transcription	Gastric	stomach

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