Variant report

Variant	rs73500424
Chromosome Location	chr7:140299916-140299917
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140295798..140297761-chr7:140298299..140300028,2	K562	blood:
2	chr7:140296522..140298552-chr7:140299428..140301578,2	MCF-7	breast:
3	chr7:140299787..140302664-chr7:140303935..140306575,2	K562	blood:

Variant related genes	Relation type
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10264061	1.00[EUR][1000 genomes]
rs10270838	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269260	1.00[ASN][1000 genomes]
rs56942922	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57570112	1.00[EUR][1000 genomes]
rs57916123	1.00[ASN][1000 genomes]
rs61369053	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943180	1.00[ASN][1000 genomes]
rs6947111	1.00[EUR][1000 genomes]
rs6971144	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73483908	1.00[ASN][1000 genomes]
rs73498495	1.00[ASN][1000 genomes]
rs73498497	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73498501	1.00[ASN][1000 genomes]
rs73500409	1.00[ASN][1000 genomes]
rs73500413	1.00[ASN][1000 genomes]
rs73500418	1.00[ASN][1000 genomes]
rs73500426	1.00[ASN][1000 genomes]
rs73736619	0.90[EUR][1000 genomes]
rs7776899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7787030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7787161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789961	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794206	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7796944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	chr7:140267800-140300800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:140267800-140326000	Weak transcription	Gastric	stomach
8	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
9	chr7:140274000-140301400	Weak transcription	Right Ventricle	heart
10	chr7:140279800-140302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:140281600-140306400	Weak transcription	Brain Angular Gyrus	brain
12	chr7:140281800-140304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:140285800-140301400	Weak transcription	Left Ventricle	heart
14	chr7:140285800-140306400	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:140286000-140304000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:140286600-140300000	Weak transcription	Fetal Intestine Large	intestine
17	chr7:140287400-140300000	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:140287400-140301400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:140287400-140301400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:140287600-140300800	Weak transcription	Brain Substantia Nigra	brain
21	chr7:140287600-140301400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:140287600-140301400	Weak transcription	Adipose Nuclei	Adipose
23	chr7:140287600-140301400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:140287600-140304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:140287600-140305600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
27	chr7:140294200-140300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:140294400-140300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:140294600-140302400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:140295000-140301200	Weak transcription	Fetal Intestine Small	intestine
31	chr7:140295800-140300800	Weak transcription	Placenta	Placenta
32	chr7:140296000-140300000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
34	chr7:140296400-140301800	Weak transcription	Brain Anterior Caudate	brain
35	chr7:140296800-140300600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:140297600-140302800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:140297600-140313600	Weak transcription	Fetal Kidney	kidney
38	chr7:140297800-140300000	Weak transcription	Fetal Stomach	stomach
39	chr7:140297800-140300200	Weak transcription	NHDF-Ad	bronchial
40	chr7:140297800-140301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:140297800-140301200	Weak transcription	Ovary	ovary
42	chr7:140297800-140301600	Weak transcription	NHLF	lung
43	chr7:140297800-140304200	Weak transcription	NH-A	brain
44	chr7:140297800-140306800	Weak transcription	Spleen	Spleen
45	chr7:140298400-140301400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:140298600-140301800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:140298800-140301400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:140298800-140305000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:140299200-140306800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:140299600-140301400	Strong transcription	Fetal Muscle Trunk	muscle

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