Variant report

Variant	rs73715502
Chromosome Location	chr7:111826174-111826175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111825703..111828639-chr7:111855708..111857672,2	K562	blood:
2	chr7:111824683..111826311-chr7:111830229..111832204,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11976430	0.93[AFR][1000 genomes]
rs34571830	1.00[AFR][1000 genomes]
rs55731771	0.93[AFR][1000 genomes]
rs55935391	1.00[AMR][1000 genomes]
rs56237403	1.00[AMR][1000 genomes]
rs57297756	1.00[AMR][1000 genomes]
rs61142815	0.93[AFR][1000 genomes]
rs61662262	1.00[AMR][1000 genomes]
rs73715410	1.00[AMR][1000 genomes]
rs73715412	1.00[AMR][1000 genomes]
rs73715414	1.00[AMR][1000 genomes]
rs73715415	1.00[AMR][1000 genomes]
rs73715416	1.00[AMR][1000 genomes]
rs73715422	1.00[AMR][1000 genomes]
rs73715431	1.00[AMR][1000 genomes]
rs73715472	1.00[AMR][1000 genomes]
rs73715473	1.00[AMR][1000 genomes]
rs73715474	1.00[AMR][1000 genomes]
rs73715492	1.00[AMR][1000 genomes]
rs73717512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717517	0.93[AFR][1000 genomes]
rs73717527	0.93[AFR][1000 genomes]
rs73717530	0.93[AFR][1000 genomes]
rs73717532	1.00[AFR][1000 genomes]
rs73717533	1.00[AFR][1000 genomes]
rs73717535	0.93[AFR][1000 genomes]
rs73717948	1.00[AMR][1000 genomes]
rs73717949	1.00[AMR][1000 genomes]
rs73717950	1.00[AMR][1000 genomes]
rs73717953	1.00[AMR][1000 genomes]
rs73717954	1.00[AMR][1000 genomes]
rs7784460	1.00[AMR][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	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111814000-111836000	Weak transcription	Fetal Brain Female	brain
2	chr7:111817200-111826200	Enhancers	Brain Angular Gyrus	brain
3	chr7:111817400-111835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:111820800-111831200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:111821600-111826400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:111821600-111827600	Weak transcription	Fetal Brain Male	brain
7	chr7:111822000-111826400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:111822800-111826200	Enhancers	Right Atrium	heart
9	chr7:111822800-111826800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:111822800-111827600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:111823200-111828000	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:111823200-111828400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung
15	chr7:111823800-111826400	Enhancers	Left Ventricle	heart
16	chr7:111823800-111826400	Enhancers	Right Ventricle	heart
17	chr7:111824000-111826400	Enhancers	Psoas Muscle	Psoas
18	chr7:111824000-111827600	Weak transcription	Ovary	ovary
19	chr7:111824200-111826200	Enhancers	Adipose Nuclei	Adipose
20	chr7:111824200-111826200	Enhancers	Colon Smooth Muscle	Colon
21	chr7:111824600-111826600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:111825000-111826200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:111825000-111827800	Enhancers	Brain Substantia Nigra	brain
24	chr7:111825000-111832600	Enhancers	Brain Hippocampus Middle	brain
25	chr7:111825200-111826200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:111825200-111826200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:111825200-111826800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:111825200-111826800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:111825400-111826800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:111825400-111826800	Enhancers	NHEK	skin
31	chr7:111825400-111829600	Enhancers	Brain Anterior Caudate	brain
32	chr7:111825600-111826200	Enhancers	Esophagus	oesophagus
33	chr7:111825800-111826200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:111825800-111826200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:111825800-111826200	Enhancers	Liver	Liver
36	chr7:111825800-111826200	Enhancers	Fetal Muscle Leg	muscle
37	chr7:111825800-111826200	Flanking Active TSS	Lung	lung
38	chr7:111825800-111826200	Enhancers	Pancreas	Pancrea
39	chr7:111825800-111826200	Enhancers	Spleen	Spleen
40	chr7:111825800-111826400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr7:111825800-111827400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:111825800-111829200	Enhancers	Fetal Heart	heart
43	chr7:111826000-111826200	Enhancers	Gastric	stomach
44	chr7:111826000-111830400	Weak transcription	HepG2	liver
45	chr7:111826000-111830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:111826000-111839000	Weak transcription	NHLF	lung
47	chr7:111826000-111842200	Enhancers	HUVEC	blood vessel

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