Variant report

Variant	rs73717949
Chromosome Location	chr7:111707602-111707603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111706366..111708870-chr7:111719748..111721379,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55935391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56237403	1.00[AMR][1000 genomes]
rs57297756	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61662262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715413	1.00[AFR][1000 genomes]
rs73715414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715420	0.84[AFR][1000 genomes]
rs73715422	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715431	1.00[AFR][1000 genomes];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]
rs73715502	1.00[AMR][1000 genomes]
rs73717512	1.00[AMR][1000 genomes]
rs73717948	1.00[AMR][1000 genomes]
rs73717950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717953	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7784460	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1844097	chr7:111686153-111723488	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111694000-111712200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:111694000-111714600	Weak transcription	Aorta	Aorta
3	chr7:111694200-111712600	Weak transcription	Pancreas	Pancrea
4	chr7:111696800-111709000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:111701600-111707800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:111702200-111710800	Enhancers	Brain Substantia Nigra	brain
7	chr7:111702600-111710600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:111703800-111711000	Enhancers	Brain Hippocampus Middle	brain
9	chr7:111704400-111710000	Weak transcription	Left Ventricle	heart
10	chr7:111704400-111710200	Enhancers	Brain Angular Gyrus	brain
11	chr7:111704400-111716200	Weak transcription	NHLF	lung
12	chr7:111705200-111708400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:111705400-111709200	Weak transcription	Psoas Muscle	Psoas
14	chr7:111705800-111709600	Enhancers	Ovary	ovary
15	chr7:111706200-111707800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:111706200-111712400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:111706400-111707800	Weak transcription	HepG2	liver
18	chr7:111706400-111709200	Weak transcription	Right Ventricle	heart
19	chr7:111706800-111710400	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:111706800-111713200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:111707000-111713200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:111707000-111713200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:111707200-111708800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:111707200-111708800	Enhancers	NHEK	skin
25	chr7:111707200-111712600	Weak transcription	Lung	lung
26	chr7:111707400-111708000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:111707400-111708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:111707400-111708000	Enhancers	Fetal Kidney	kidney
29	chr7:111707400-111708000	Enhancers	Right Atrium	heart
30	chr7:111707400-111708400	Enhancers	HMEC	breast
31	chr7:111707400-111708600	Flanking Active TSS	A549	lung
32	chr7:111707400-111708800	Enhancers	Liver	Liver
33	chr7:111707400-111711000	Enhancers	Brain Anterior Caudate	brain
34	chr7:111707600-111707800	Enhancers	Colon Smooth Muscle	Colon
35	chr7:111707600-111708000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:111707600-111708200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr7:111707600-111708400	Enhancers	Rectal Smooth Muscle	rectum
38	chr7:111707600-111709600	Enhancers	Fetal Lung	lung

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