Variant report

Variant	rs9478147
Chromosome Location	chr6:150148018-150148019
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150138857..150141317-chr6:150147239..150149220,2	K562	blood:
2	chr6:150037964..150039562-chr6:150146214..150148078,2	K562	blood:
3	chr6:150146365..150148189-chr6:150149570..150152826,3	K562	blood:
4	chr6:150140253..150142421-chr6:150147806..150149368,2	K562	blood:
5	chr6:150141029..150142944-chr6:150146310..150148674,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131023	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28379207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28622537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478822	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478895	1.00[AMR][1000 genomes]
rs9478945	1.00[AMR][1000 genomes]
rs9478948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9480479	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9505977	0.86[AFR][1000 genomes]
rs9505978	0.90[AFR][1000 genomes];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	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv886763	chr6:150091219-150174507	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150072000-150152000	Weak transcription	Aorta	Aorta
2	chr6:150073800-150182400	Weak transcription	Fetal Brain Male	brain
3	chr6:150087200-150154000	Weak transcription	Small Intestine	intestine
4	chr6:150088000-150160400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:150094400-150167200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:150105800-150176400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:150112600-150167200	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:150116000-150151800	Weak transcription	NHLF	lung
9	chr6:150118800-150151400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:150119000-150152600	Weak transcription	A549	lung
11	chr6:150119000-150164000	Weak transcription	Right Ventricle	heart
12	chr6:150120000-150164600	Weak transcription	Fetal Kidney	kidney
13	chr6:150123600-150157000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:150123800-150155800	Weak transcription	NH-A	brain
15	chr6:150124800-150151600	Weak transcription	Colonic Mucosa	Colon
16	chr6:150128000-150157200	Weak transcription	Lung	lung
17	chr6:150132800-150161800	Weak transcription	Fetal Lung	lung
18	chr6:150133000-150152000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:150133000-150152000	Weak transcription	HSMM	muscle
20	chr6:150133000-150157200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:150133200-150161200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:150133200-150161800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:150133200-150162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:150134800-150155400	Weak transcription	Dnd41	blood
25	chr6:150135000-150161600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:150140800-150149000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:150141200-150150600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:150141400-150167200	Weak transcription	Right Atrium	heart
29	chr6:150142800-150148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:150142800-150148800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:150143200-150150600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:150143200-150151800	Weak transcription	HSMMtube	muscle
33	chr6:150143200-150157200	Weak transcription	Gastric	stomach
34	chr6:150143400-150148200	Strong transcription	Adipose Nuclei	Adipose
35	chr6:150143600-150152000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:150143600-150152000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:150143600-150161600	Weak transcription	Left Ventricle	heart
38	chr6:150143800-150148800	Strong transcription	Hela-S3	cervix
39	chr6:150144000-150148200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr6:150144000-150148800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:150144400-150149000	Strong transcription	Fetal Intestine Large	intestine
42	chr6:150144400-150149000	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:150144600-150150400	Strong transcription	Ovary	ovary
44	chr6:150144600-150150600	Strong transcription	Fetal Stomach	stomach
45	chr6:150144800-150150400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:150145000-150151800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:150145000-150152000	Weak transcription	Brain Substantia Nigra	brain
48	chr6:150145400-150151400	Weak transcription	HepG2	liver
49	chr6:150146200-150167000	Weak transcription	Psoas Muscle	Psoas
50	chr6:150147000-150148600	Strong transcription	Osteobl	bone

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