Variant report

Variant	rs12647781
Chromosome Location	chr4:90056378-90056379
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90043352..90045261-chr4:90054968..90057885,2	MCF-7	breast:
2	chr4:90036580..90038226-chr4:90055929..90057591,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10433948	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10433949	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11097216	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11725938	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11726708	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11730277	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12502070	0.81[AMR][1000 genomes]
rs12507131	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1533293	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733448	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56943497	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57987710	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58377799	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58633349	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59710447	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60770708	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61138976	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66475381	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66500341	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66869930	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67287708	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67412466	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6817766	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72613157	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72877679	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72877685	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9994655	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv470052	chr4:90055898-90075384	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv830002	chr4:90056232-90258865	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90050800-90059000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:90055400-90056400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:90055400-90057000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:90055400-90058200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:90055800-90056600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:90055800-90058600	Enhancers	NHEK	skin
7	chr4:90056000-90056400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:90056000-90056400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:90056000-90056400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:90056000-90056400	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr4:90056000-90056400	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr4:90056000-90056400	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr4:90056000-90056400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:90056000-90056400	Enhancers	Brain Substantia Nigra	brain
15	chr4:90056000-90056400	Enhancers	Colon Smooth Muscle	Colon
16	chr4:90056000-90056400	Enhancers	Fetal Kidney	kidney
17	chr4:90056000-90056400	Enhancers	Fetal Lung	lung
18	chr4:90056000-90056400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr4:90056000-90056400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:90056000-90056400	Enhancers	HMEC	breast
21	chr4:90056000-90056400	Enhancers	NH-A	brain
22	chr4:90056000-90056400	Enhancers	NHLF	lung
23	chr4:90056000-90056400	Enhancers	Osteobl	bone
24	chr4:90056000-90056600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:90056000-90056600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:90056000-90056600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:90056000-90056600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:90056000-90056600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:90056000-90056600	Enhancers	Fetal Brain Female	brain
30	chr4:90056000-90057800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:90056000-90058000	Enhancers	A549	lung
32	chr4:90056200-90056400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr4:90056200-90056800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:90056200-90057000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:90056200-90057200	Weak transcription	NHDF-Ad	bronchial
36	chr4:90056200-90057600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:90056200-90071800	Weak transcription	Right Atrium	heart

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