Variant report

Variant	rs62030184
Chromosome Location	chr15:76489913-76489914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76488936..76490866-chr15:76603480..76605348,2	MCF-7	breast:
2	chr15:76489752..76492594-chr15:76628754..76630476,2	K562	blood:
3	chr15:76484853..76487491-chr15:76488798..76492049,5	K562	blood:
4	chr15:76489835..76492594-chr15:76628976..76630921,2	K562	blood:
5	chr15:76487953..76490483-chr15:76500123..76503783,3	K562	blood:
6	chr15:76487373..76491413-chr15:76492592..76495149,4	K562	blood:
7	chr15:76488844..76490782-chr15:76625306..76628294,2	K562	blood:
8	chr15:76489717..76491571-chr15:76503812..76506764,2	K562	blood:
9	chr15:76486525..76491130-chr15:76491292..76495169,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159556	Chromatin interaction
ENSG00000140374	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11854285	0.81[EUR][1000 genomes]
rs11854972	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856244	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11856470	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857880	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469208	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831300	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862704	0.81[EUR][1000 genomes]
rs55923544	0.94[EUR][1000 genomes]
rs56110707	0.82[EUR][1000 genomes]
rs56220133	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233972	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313024	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59691037	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60261704	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027004	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027007	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027010	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027014	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027016	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027019	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027054	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027059	0.86[AMR][1000 genomes]
rs62028361	0.86[AMR][1000 genomes]
rs62030162	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62030163	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62030166	0.82[EUR][1000 genomes]
rs62030167	0.82[EUR][1000 genomes]
rs62030169	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62030170	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62030172	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030183	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030187	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030191	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030230	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62030234	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030240	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495195	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167004	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7175022	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736846	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736862	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736888	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736892	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73448114	0.86[AMR][1000 genomes]
rs8042654	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1048760	chr15:76334544-76496977	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1036319	chr15:76432823-76489955	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv1042750	chr15:76435640-76490547	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv1046099	chr15:76444695-76490547	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1049916	chr15:76454194-76490547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1054713	chr15:76460462-76505906	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76483600-76493400	Enhancers	Stomach Mucosa	stomach
2	chr15:76483800-76491800	Weak transcription	Liver	Liver
3	chr15:76484000-76498600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:76484000-76500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:76484200-76498200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:76485400-76498400	Weak transcription	Fetal Brain Female	brain
7	chr15:76486000-76492000	Enhancers	Esophagus	oesophagus
8	chr15:76486800-76491800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:76486800-76503000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:76486800-76516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:76487000-76492200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:76487000-76498200	Weak transcription	Primary T cells from cord blood	blood
13	chr15:76487400-76492400	Enhancers	Psoas Muscle	Psoas
14	chr15:76487600-76492000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:76487800-76490200	Enhancers	Right Atrium	heart
16	chr15:76487800-76492000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:76488000-76490600	Enhancers	Gastric	stomach
18	chr15:76488200-76490000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:76488200-76490000	Enhancers	Colon Smooth Muscle	Colon
20	chr15:76488200-76490200	Enhancers	Brain Hippocampus Middle	brain
21	chr15:76488200-76492000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr15:76488200-76492200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:76488200-76492200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr15:76488200-76492600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:76488400-76490000	Enhancers	HUVEC	blood vessel
26	chr15:76488400-76490000	Enhancers	NHDF-Ad	bronchial
27	chr15:76488400-76490200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:76488400-76490200	Enhancers	Brain Anterior Caudate	brain
29	chr15:76488400-76490200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:76488400-76490200	Enhancers	Rectal Smooth Muscle	rectum
31	chr15:76488400-76490200	Enhancers	Spleen	Spleen
32	chr15:76488400-76490400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr15:76488400-76490400	Enhancers	Brain Substantia Nigra	brain
34	chr15:76488400-76490400	Enhancers	Duodenum Mucosa	Duodenum
35	chr15:76488400-76490400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr15:76488400-76490600	Enhancers	Placenta	Placenta
37	chr15:76488400-76490800	Enhancers	Fetal Thymus	thymus
38	chr15:76488400-76490800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr15:76488400-76490800	Flanking Active TSS	Hela-S3	cervix
40	chr15:76488400-76491200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr15:76488400-76491200	Enhancers	HSMMtube	muscle
42	chr15:76488400-76491400	Enhancers	Colonic Mucosa	Colon
43	chr15:76488400-76491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:76488400-76492000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:76488400-76492000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:76488400-76492200	Enhancers	Right Ventricle	heart
47	chr15:76488400-76492400	Enhancers	Left Ventricle	heart
48	chr15:76488400-76492400	Enhancers	NHLF	lung
49	chr15:76488400-76492600	Enhancers	HSMM	muscle
50	chr15:76488400-76492600	Enhancers	NH-A	brain

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