Variant report

Variant	rs73715474
Chromosome Location	chr7:111771038-111771039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55935391	1.00[AMR][1000 genomes]
rs56237403	1.00[AMR][1000 genomes]
rs57297756	1.00[AMR][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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715492	1.00[AMR][1000 genomes]
rs73715502	1.00[AMR][1000 genomes]
rs73717512	1.00[AMR][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:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111757400-111777800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:111759600-111771200	Weak transcription	Right Atrium	heart
3	chr7:111764400-111772600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:111764800-111772000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:111766200-111771800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:111768200-111772400	Weak transcription	Fetal Brain Female	brain
7	chr7:111768400-111774600	Enhancers	Brain Hippocampus Middle	brain
8	chr7:111768600-111773800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:111769000-111773200	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:111769000-111773200	Enhancers	Colon Smooth Muscle	Colon
11	chr7:111769000-111774400	Enhancers	Brain Anterior Caudate	brain
12	chr7:111769000-111774600	Enhancers	Brain Substantia Nigra	brain
13	chr7:111769200-111771800	Enhancers	Brain Angular Gyrus	brain
14	chr7:111769400-111771800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:111769400-111772000	Enhancers	HUVEC	blood vessel
16	chr7:111769600-111771800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:111769600-111773400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:111770000-111772400	Enhancers	Fetal Kidney	kidney
19	chr7:111770000-111772800	Enhancers	Fetal Lung	lung
20	chr7:111770000-111773800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:111770000-111774400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr7:111770000-111776800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:111770200-111772000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:111770200-111772200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:111770200-111772200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:111770200-111775600	Weak transcription	Small Intestine	intestine
27	chr7:111770400-111771200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:111770400-111771200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:111770400-111771200	Weak transcription	Left Ventricle	heart
30	chr7:111770400-111771800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:111770400-111771800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:111770400-111771800	Weak transcription	Ovary	ovary
33	chr7:111770400-111771800	Weak transcription	Psoas Muscle	Psoas
34	chr7:111770400-111772000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:111770400-111772000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:111770400-111772200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:111770400-111772400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:111770400-111772400	Weak transcription	Right Ventricle	heart
39	chr7:111770400-111772400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:111770400-111772800	Weak transcription	Lung	lung
41	chr7:111770400-111776400	Weak transcription	A549	lung
42	chr7:111770400-111776600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:111770400-111791000	Weak transcription	NHEK	skin
44	chr7:111770600-111771800	Weak transcription	HepG2	liver
45	chr7:111770600-111772800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:111770800-111773800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:111770800-111774000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:111770800-111775400	Weak transcription	Liver	Liver
49	chr7:111771000-111771600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:111771000-111772200	Active TSS	Aorta	Aorta

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