Variant report

Variant	rs73683935
Chromosome Location	chr7:28060852-28060853
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	CTCF	chr7:28059544-28061337	SK-N-SH	brain:	n/a	chr7:28060134-28060152 chr7:28060129-28060150
2	CTCF	chr7:28060640-28060890	SK-N-SH_RA	brain:	n/a	n/a
3	SMC3	chr7:28059243-28061231	SK-N-SH	brain:	n/a	chr7:28060136-28060150

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27223543..27225777-chr7:28060151..28062012,2	MCF-7	breast:

Variant related genes	Relation type
JAZF1	TF binding region
ENSG00000240990	Chromatin interaction
ENSG00000005073	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs57516014	1.00[AMR][1000 genomes]
rs57781449	1.00[AMR][1000 genomes]
rs58890703	1.00[AMR][1000 genomes]
rs60825597	1.00[AMR][1000 genomes]
rs60912742	1.00[AMR][1000 genomes]
rs61474284	1.00[AMR][1000 genomes]
rs6975894	1.00[AMR][1000 genomes]
rs73302940	1.00[AMR][1000 genomes]
rs73683932	1.00[AMR][1000 genomes]
rs73683933	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683936	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683937	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683938	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683939	0.95[AFR][1000 genomes]
rs73683940	1.00[AMR][1000 genomes]
rs73683941	1.00[AMR][1000 genomes]
rs73683943	1.00[AMR][1000 genomes]
rs73683949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683952	1.00[AMR][1000 genomes]
rs73683973	1.00[AMR][1000 genomes]
rs73684087	1.00[AMR][1000 genomes]
rs73685831	1.00[AMR][1000 genomes]
rs7794172	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28045400-28076200	Weak transcription	Gastric	stomach
2	chr7:28054800-28062000	Enhancers	Colon Smooth Muscle	Colon
3	chr7:28054800-28073400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:28055800-28072400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:28056200-28066400	Weak transcription	Esophagus	oesophagus
6	chr7:28056200-28072400	Weak transcription	Spleen	Spleen
7	chr7:28056400-28064400	Weak transcription	Aorta	Aorta
8	chr7:28056400-28072200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:28057200-28061000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:28057800-28062000	Enhancers	Fetal Muscle Leg	muscle
11	chr7:28057800-28066000	Weak transcription	Brain Substantia Nigra	brain
12	chr7:28057800-28076200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:28058000-28064400	Weak transcription	Right Atrium	heart
14	chr7:28058000-28065600	Weak transcription	Left Ventricle	heart
15	chr7:28058000-28076200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:28058600-28065600	Weak transcription	Primary T cells from cord blood	blood
17	chr7:28058800-28061600	Weak transcription	Primary B cells from cord blood	blood
18	chr7:28059000-28069600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:28059600-28062200	Enhancers	HSMM	muscle
20	chr7:28059600-28064400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:28060000-28061000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:28060000-28076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:28060200-28061000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:28060200-28064200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:28060200-28066000	Weak transcription	Fetal Stomach	stomach
26	chr7:28060200-28073800	Weak transcription	NHLF	lung
27	chr7:28060200-28076000	Weak transcription	HUVEC	blood vessel
28	chr7:28060400-28061200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:28060400-28061400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:28060400-28064000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:28060400-28064200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:28060400-28064400	Weak transcription	Right Ventricle	heart
33	chr7:28060400-28064400	Weak transcription	Osteobl	bone
34	chr7:28060400-28064600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:28060400-28065800	Weak transcription	Brain Anterior Caudate	brain
36	chr7:28060400-28066000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:28060400-28066000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:28060400-28073800	Weak transcription	Liver	Liver
39	chr7:28060600-28061000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:28060600-28061000	Weak transcription	Ovary	ovary
41	chr7:28060600-28061000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:28060600-28064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:28060600-28064400	Weak transcription	NHDF-Ad	bronchial
44	chr7:28060600-28065600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:28060600-28065800	Weak transcription	Fetal Heart	heart
46	chr7:28060600-28068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:28060600-28075200	Weak transcription	HMEC	breast
48	chr7:28060600-28076600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr7:28060800-28061200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:28060800-28061400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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