Variant report

Variant	rs60286732
Chromosome Location	chr5:167823646-167823647
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	chr5:167821349..167824905-chr5:167826155..167828840,3	K562	blood:
2	chr5:167791279..167794104-chr5:167820858..167823650,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10050875	1.00[AMR][1000 genomes]
rs10051004	1.00[AMR][1000 genomes]
rs10052800	1.00[AMR][1000 genomes]
rs10064050	1.00[AMR][1000 genomes]
rs10065566	1.00[AMR][1000 genomes]
rs10072769	1.00[AMR][1000 genomes]
rs57038345	1.00[AMR][1000 genomes]
rs57509071	1.00[AMR][1000 genomes]
rs73383505	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3444818	chr5:167770667-167902204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167793600-167826600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:167808400-167826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:167809400-167835600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:167809600-167828200	Weak transcription	Stomach Mucosa	stomach
5	chr5:167810400-167824800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:167810600-167826000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:167811400-167831000	Weak transcription	Brain Germinal Matrix	brain
8	chr5:167812200-167835600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:167812400-167824800	Weak transcription	Fetal Stomach	stomach
10	chr5:167812400-167826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:167812400-167836800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:167812600-167824600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:167812600-167824600	Weak transcription	Fetal Brain Female	brain
14	chr5:167812600-167824800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:167812600-167825400	Weak transcription	Gastric	stomach
16	chr5:167812600-167826000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:167812600-167826000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:167812600-167830400	Weak transcription	Brain Substantia Nigra	brain
19	chr5:167812600-167896400	Weak transcription	Colonic Mucosa	Colon
20	chr5:167812800-167824600	Weak transcription	Fetal Kidney	kidney
21	chr5:167812800-167828000	Weak transcription	Fetal Lung	lung
22	chr5:167813200-167825400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:167813200-167825800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:167813200-167826000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:167814400-167830400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:167814600-167824400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:167814800-167824400	Weak transcription	Placenta	Placenta
28	chr5:167817800-167824600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:167818000-167824400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:167818000-167824800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:167818000-167825800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:167818000-167830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:167818200-167824400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:167818200-167825400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:167818200-167825400	Weak transcription	HMEC	breast
36	chr5:167819400-167824800	Weak transcription	Hela-S3	cervix
37	chr5:167819600-167824400	Weak transcription	Fetal Intestine Small	intestine
38	chr5:167820400-167826000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:167820400-167828800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:167820600-167824400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:167820800-167824400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:167820800-167826000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:167820800-167826000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:167820800-167830600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:167821200-167824800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:167821200-167825600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:167821200-167830400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:167821400-167824600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:167821400-167824600	Weak transcription	HepG2	liver
50	chr5:167822400-167824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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