Variant report

Variant	rs62018216
Chromosome Location	chr15:51387404-51387405
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51374735..51377659-chr15:51385754..51389535,3	MCF-7	breast:
2	chr15:51385109..51388329-chr15:51394430..51396679,3	MCF-7	breast:
3	chr15:51377919..51380652-chr15:51384491..51387589,4	MCF-7	breast:
4	chr15:51386847..51389829-chr15:51423668..51425272,2	MCF-7	breast:
5	chr15:51378412..51381231-chr15:51384071..51387413,3	MCF-7	breast:
6	chr15:51383701..51385814-chr15:51386600..51389440,2	K562	blood:
7	chr15:51329958..51333003-chr15:51384455..51387756,5	MCF-7	breast:
8	chr15:51385170..51388153-chr15:51390424..51392777,2	K562	blood:
9	chr15:51199017..51202160-chr15:51384905..51388253,3	MCF-7	breast:
10	chr15:51385731..51387801-chr15:51406317..51408317,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081014	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10152338	1.00[ASN][1000 genomes]
rs11631696	1.00[ASN][1000 genomes]
rs11635474	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380277	1.00[ASN][1000 genomes]
rs16963982	1.00[ASN][1000 genomes]
rs16963985	1.00[ASN][1000 genomes]
rs17521440	1.00[ASN][1000 genomes]
rs17600375	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600549	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600569	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28552599	1.00[ASN][1000 genomes]
rs57570932	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57603576	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58449611	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018161	1.00[ASN][1000 genomes]
rs62018162	1.00[ASN][1000 genomes]
rs62018164	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018166	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018184	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018215	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018217	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018226	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020176	1.00[ASN][1000 genomes]
rs62020177	1.00[ASN][1000 genomes]
rs62020178	1.00[ASN][1000 genomes]
rs72727121	0.81[AMR][1000 genomes]
rs9944192	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv428634	chr15:51299632-51446666	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51385000-51387600	Active TSS	Rectal Smooth Muscle	rectum
2	chr15:51385000-51388000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:51385000-51388000	Active TSS	Aorta	Aorta
4	chr15:51385200-51387600	Active TSS	Brain Cingulate Gyrus	brain
5	chr15:51385400-51387600	Active TSS	HSMM	muscle
6	chr15:51385400-51387800	Active TSS	Brain Hippocampus Middle	brain
7	chr15:51385600-51387600	Active TSS	Brain Angular Gyrus	brain
8	chr15:51385600-51387600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr15:51385600-51387600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:51385600-51387800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr15:51385600-51388000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:51385600-51388400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:51385800-51387600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr15:51385800-51387600	Active TSS	Brain Substantia Nigra	brain
15	chr15:51385800-51387600	Active TSS	Left Ventricle	heart
16	chr15:51385800-51387600	Bivalent/Poised TSS	Thymus	Thymus
17	chr15:51385800-51387800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr15:51385800-51387800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:51385800-51387800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:51385800-51387800	Bivalent/Poised TSS	Small Intestine	intestine
21	chr15:51385800-51387800	Bivalent/Poised TSS	NHLF	lung
22	chr15:51385800-51388000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr15:51385800-51388000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr15:51385800-51388000	Active TSS	Brain Anterior Caudate	brain
25	chr15:51385800-51388000	Active TSS	Right Atrium	heart
26	chr15:51385800-51388200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr15:51386000-51387600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:51386000-51387600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr15:51386000-51387600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr15:51386000-51387600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr15:51386000-51387800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:51386000-51387800	Active TSS	Esophagus	oesophagus
33	chr15:51386000-51387800	Active TSS	Ovary	ovary
34	chr15:51386000-51387800	Bivalent/Poised TSS	NHEK	skin
35	chr15:51386000-51388000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:51386000-51388000	Active TSS	HSMMtube	muscle
37	chr15:51386200-51387600	Active TSS	HepG2	liver
38	chr15:51386200-51387800	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr15:51386200-51388000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr15:51386400-51387600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:51386400-51387600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:51386400-51387600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:51386400-51387600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr15:51386400-51387600	Bivalent/Poised TSS	Fetal Stomach	stomach
45	chr15:51386400-51387600	Active TSS	Right Ventricle	heart
46	chr15:51386400-51387600	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr15:51386400-51387600	Bivalent/Poised TSS	A549	lung
48	chr15:51386400-51387600	Active TSS	HUVEC	blood vessel
49	chr15:51386400-51387600	Active TSS	Osteobl	bone
50	chr15:51386400-51387800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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