Variant report

Variant	rs28657710
Chromosome Location	chr7:111546345-111546346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111538964..111541049-chr7:111545788..111547924,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10224457	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10236850	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10249065	0.81[EUR][1000 genomes]
rs10255299	0.89[EUR][1000 genomes]
rs13227802	0.95[EUR][1000 genomes]
rs6466391	0.98[EUR][1000 genomes]
rs6971767	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv1796107	chr7:111545812-111625713	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111481000-111554000	Weak transcription	Placenta	Placenta
2	chr7:111500600-111560400	Weak transcription	Pancreas	Pancrea
3	chr7:111514400-111556400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:111514600-111546600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:111514800-111571000	Weak transcription	NHLF	lung
6	chr7:111515000-111554200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:111515000-111554200	Weak transcription	Esophagus	oesophagus
8	chr7:111519200-111558200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:111521800-111578000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:111526800-111555600	Weak transcription	Spleen	Spleen
11	chr7:111527600-111551000	Weak transcription	Brain Angular Gyrus	brain
12	chr7:111534200-111554000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:111534400-111551000	Weak transcription	HSMMtube	muscle
14	chr7:111535000-111554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:111535000-111556400	Weak transcription	Aorta	Aorta
16	chr7:111535000-111559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:111536400-111557600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:111536800-111551600	Weak transcription	Right Atrium	heart
19	chr7:111540800-111547000	Weak transcription	Brain Substantia Nigra	brain
20	chr7:111540800-111551400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:111540800-111553800	Weak transcription	Brain Germinal Matrix	brain
22	chr7:111540800-111554400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:111540800-111556600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:111541000-111546600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:111541000-111546600	Weak transcription	Lung	lung
26	chr7:111541000-111551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:111541000-111553800	Weak transcription	Fetal Brain Female	brain
28	chr7:111541000-111555000	Weak transcription	HepG2	liver
29	chr7:111541000-111555600	Weak transcription	Fetal Stomach	stomach
30	chr7:111541000-111556600	Weak transcription	Right Ventricle	heart
31	chr7:111541000-111559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:111541000-111565200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:111541000-111579000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:111541200-111550400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:111541200-111551600	Weak transcription	Psoas Muscle	Psoas
36	chr7:111541400-111546600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:111541400-111553200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:111541400-111554200	Weak transcription	Ovary	ovary
39	chr7:111541400-111563200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:111541600-111546600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:111541800-111550400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:111541800-111550800	Weak transcription	Brain Anterior Caudate	brain
43	chr7:111543600-111546800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:111543800-111547600	Strong transcription	HUVEC	blood vessel
45	chr7:111543800-111548200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:111544600-111550200	Weak transcription	A549	lung
47	chr7:111544800-111549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:111545000-111559800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:111545400-111547600	Strong transcription	Left Ventricle	heart
50	chr7:111545400-111556600	Weak transcription	Colon Smooth Muscle	Colon

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