Variant report

Variant	rs73694340
Chromosome Location	chr7:48150339-48150340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:48030749..48032126-chr7:48149476..48150428,18	MCF-7	breast:
2	chr7:48139477..48142399-chr7:48149802..48152490,2	K562	blood:
3	chr7:47984460..47985513-chr7:48149453..48150415,8	K562	blood:
4	chr7:48031057..48031968-chr7:48149640..48150841,6	MCF-7	breast:
5	chr7:48017785..48019751-chr7:48148894..48151389,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55677398	0.87[EUR][1000 genomes]
rs55749230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58424439	0.87[EUR][1000 genomes]
rs58694035	0.87[EUR][1000 genomes]
rs59452373	0.87[EUR][1000 genomes]
rs73337887	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48137800-48152400	Weak transcription	HSMM	muscle
2	chr7:48138800-48156200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:48143000-48156200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:48143200-48152000	Weak transcription	HSMMtube	muscle
5	chr7:48143400-48151400	Weak transcription	NHDF-Ad	bronchial
6	chr7:48147200-48150400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:48147800-48151000	Weak transcription	Fetal Intestine Large	intestine
8	chr7:48148000-48155800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:48148600-48151600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:48148600-48151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:48148600-48154200	Weak transcription	Aorta	Aorta
12	chr7:48148600-48158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:48148800-48150400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:48148800-48150400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:48148800-48150400	Weak transcription	Ovary	ovary
16	chr7:48148800-48150600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:48148800-48150600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:48148800-48150800	Weak transcription	Gastric	stomach
19	chr7:48148800-48151800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:48148800-48151800	Weak transcription	NH-A	brain
21	chr7:48148800-48151800	Weak transcription	Osteobl	bone
22	chr7:48148800-48152000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:48149000-48150600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:48149000-48150800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:48149000-48150800	Weak transcription	Left Ventricle	heart
26	chr7:48149000-48150800	Weak transcription	Lung	lung
27	chr7:48149000-48150800	Weak transcription	Right Ventricle	heart
28	chr7:48149000-48150800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:48149000-48151000	Weak transcription	Pancreas	Pancrea
30	chr7:48149000-48151600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:48149000-48152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:48149000-48152200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:48149000-48152200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:48149000-48155800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:48149200-48150400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:48149200-48150400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:48149200-48150400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:48149200-48150800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:48149200-48150800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:48149200-48150800	Weak transcription	Adipose Nuclei	Adipose
41	chr7:48149200-48150800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:48149200-48151000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:48149200-48151400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:48149200-48151400	Weak transcription	NHEK	skin
45	chr7:48149200-48151800	Weak transcription	HMEC	breast
46	chr7:48149200-48152000	Weak transcription	NHLF	lung
47	chr7:48149200-48153600	Weak transcription	Esophagus	oesophagus
48	chr7:48149200-48154000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:48149400-48150400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:48149400-48150400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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