Variant report

Variant	rs73500426
Chromosome Location	chr7:140300978-140300979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140296522..140298552-chr7:140299428..140301578,2	MCF-7	breast:
2	chr7:140299787..140302664-chr7:140303935..140306575,2	K562	blood:

Variant related genes	Relation type
ENSG00000146966	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10270838	1.00[ASN][1000 genomes]
rs269260	1.00[ASN][1000 genomes]
rs56942922	1.00[ASN][1000 genomes]
rs57916123	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59500330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61369053	1.00[ASN][1000 genomes]
rs6943180	1.00[ASN][1000 genomes]
rs6971144	1.00[ASN][1000 genomes]
rs73483908	1.00[ASN][1000 genomes]
rs73498495	1.00[ASN][1000 genomes]
rs73498497	1.00[ASN][1000 genomes]
rs73498501	1.00[ASN][1000 genomes]
rs73500409	1.00[ASN][1000 genomes]
rs73500413	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73500418	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73500424	1.00[ASN][1000 genomes]
rs73500427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500495	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7789961	1.00[ASN][1000 genomes]
rs7796944	1.00[ASN][1000 genomes]
rs7811087	1.00[ASN][1000 genomes]
rs9942679	1.00[ASN][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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140263800-140303600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:140263800-140303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:140263800-140305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:140265200-140304400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:140267800-140326000	Weak transcription	Gastric	stomach
7	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
8	chr7:140274000-140301400	Weak transcription	Right Ventricle	heart
9	chr7:140279800-140302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:140281600-140306400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:140281800-140304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:140285800-140301400	Weak transcription	Left Ventricle	heart
13	chr7:140285800-140306400	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:140286000-140304000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:140287400-140301400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:140287400-140301400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:140287600-140301400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:140287600-140301400	Weak transcription	Adipose Nuclei	Adipose
19	chr7:140287600-140301400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:140287600-140304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:140287600-140305600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
23	chr7:140294600-140302400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:140295000-140301200	Weak transcription	Fetal Intestine Small	intestine
25	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
26	chr7:140296400-140301800	Weak transcription	Brain Anterior Caudate	brain
27	chr7:140297600-140302800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:140297600-140313600	Weak transcription	Fetal Kidney	kidney
29	chr7:140297800-140301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:140297800-140301200	Weak transcription	Ovary	ovary
31	chr7:140297800-140301600	Weak transcription	NHLF	lung
32	chr7:140297800-140304200	Weak transcription	NH-A	brain
33	chr7:140297800-140306800	Weak transcription	Spleen	Spleen
34	chr7:140298400-140301400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:140298600-140301800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:140298800-140301400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:140298800-140305000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:140299200-140306800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:140299600-140301400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:140299600-140301600	Strong transcription	Fetal Muscle Leg	muscle
41	chr7:140299600-140302400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:140299600-140302800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:140299600-140303200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:140299800-140302000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:140299800-140302200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:140299800-140302200	Strong transcription	Brain Germinal Matrix	brain
47	chr7:140299800-140302400	Strong transcription	Fetal Brain Female	brain
48	chr7:140299800-140302400	Strong transcription	Fetal Lung	lung
49	chr7:140299800-140302400	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr7:140299800-140302800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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