Variant report

Variant	rs57136946
Chromosome Location	chr7:111416705-111416706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11978729	0.81[AMR][1000 genomes]
rs11981927	0.81[AMR][1000 genomes]
rs3213630	0.81[AMR][1000 genomes]
rs3213631	1.00[ASN][1000 genomes]
rs3213632	0.81[AMR][1000 genomes]
rs56683533	0.81[AMR][1000 genomes]
rs58250389	0.81[AMR][1000 genomes]
rs6952833	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6964105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73432091	0.81[AMR][1000 genomes]
rs73432092	0.81[AMR][1000 genomes]
rs73432093	0.81[AMR][1000 genomes]
rs73432094	0.81[AMR][1000 genomes]
rs73432100	0.81[AMR][1000 genomes]
rs73434205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434211	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434213	0.81[AMR][1000 genomes]
rs73434215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434223	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434233	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434236	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7778290	0.81[AMR][1000 genomes]
rs7778293	0.81[AMR][1000 genomes]
rs7778482	0.81[AMR][1000 genomes]
rs7778607	0.81[AMR][1000 genomes]
rs7778675	0.81[AMR][1000 genomes]
rs7778828	0.81[AMR][1000 genomes]
rs7793316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7795709	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7801388	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking 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	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
8	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
9	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
10	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
11	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
12	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
3	chr7:111389200-111416800	Weak transcription	Placenta	Placenta
4	chr7:111390400-111435600	Weak transcription	Psoas Muscle	Psoas
5	chr7:111390600-111431800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:111393800-111417000	Weak transcription	Fetal Kidney	kidney
7	chr7:111395000-111416800	Weak transcription	Pancreas	Pancrea
8	chr7:111397200-111421800	Weak transcription	NHDF-Ad	bronchial
9	chr7:111397800-111421200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:111398000-111435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:111398200-111434000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:111399000-111432800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:111399400-111417600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:111400400-111435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:111400600-111417800	Weak transcription	Fetal Brain Male	brain
16	chr7:111401800-111417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:111401800-111418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:111404200-111417000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:111404200-111419600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:111404600-111435400	Weak transcription	NHEK	skin
21	chr7:111406400-111418800	Strong transcription	Brain Anterior Caudate	brain
22	chr7:111406600-111417000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:111406800-111435600	Weak transcription	Osteobl	bone
24	chr7:111408200-111417000	Strong transcription	Fetal Lung	lung
25	chr7:111408600-111417200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:111409000-111418600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr7:111409400-111417000	Weak transcription	Brain Germinal Matrix	brain
28	chr7:111409400-111433000	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:111409400-111434000	Weak transcription	Fetal Brain Female	brain
30	chr7:111409600-111417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:111409800-111416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:111409800-111416800	Weak transcription	Fetal Stomach	stomach
33	chr7:111409800-111417000	Weak transcription	Aorta	Aorta
34	chr7:111409800-111417600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:111409800-111419600	Weak transcription	Brain Angular Gyrus	brain
36	chr7:111410600-111417600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:111410600-111429800	Weak transcription	HepG2	liver
38	chr7:111412000-111416800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:111412000-111433000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:111412000-111435800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:111412200-111417000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:111412200-111417200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:111412200-111417400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:111412200-111417600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:111412200-111424400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:111412200-111424800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:111412400-111417000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:111413200-111424600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:111414200-111416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:111414600-111430200	Strong transcription	Liver	Liver

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