Variant report

Variant	rs1718991
Chromosome Location	chr15:30218366-30218367
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:30111488..30116062-chr15:30215235..30221223,14	MCF-7	breast:
2	chr15:30136239..30137152-chr15:30217795..30218416,3	MCF-7	breast:
3	chr15:30113714..30114275-chr15:30217695..30218379,2	MCF-7	breast:
4	chr15:30111263..30115362-chr15:30215775..30219820,11	MCF-7	breast:
5	chr15:30113361..30115168-chr15:30217748..30218659,8	MCF-7	breast:
6	chr15:30217904..30219562-chr15:30220854..30222686,2	MCF-7	breast:
7	chr15:30216407..30219283-chr15:30243845..30246238,2	K562	blood:
8	chr15:30213720..30216052-chr15:30218061..30219609,2	K562	blood:
9	chr15:30039757..30041000-chr15:30217656..30218757,7	MCF-7	breast:
10	chr15:29987389..29988307-chr15:30217729..30218454,2	MCF-7	breast:
11	chr15:29959935..29960994-chr15:30217419..30218952,7	K562	blood:
12	chr15:30044667..30045303-chr15:30217810..30218647,2	MCF-7	breast:
13	chr15:29960217..29960909-chr15:30217898..30218871,5	MCF-7	breast:
14	chr15:30213326..30217434-chr15:30217608..30221086,3	MCF-7	breast:
15	chr15:30039776..30040422-chr15:30217833..30218539,2	K562	blood:
16	chr15:29987494..29988361-chr15:30217340..30218437,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104067	Chromatin interaction
ENSG00000259523	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1001877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592270	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12594438	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12594461	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1357386	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357387	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357388	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357389	0.84[ASN][1000 genomes]
rs1403355	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1464564	0.85[ASN][1000 genomes]
rs1464565	0.85[ASN][1000 genomes]
rs1522640	0.85[ASN][1000 genomes]
rs1522643	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1522791	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1522792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1522794	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533860	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1631472	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1632356	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718977	0.85[ASN][1000 genomes]
rs1718985	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718993	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718997	0.95[ASN][1000 genomes]
rs1718998	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1718999	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719001	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719040	0.85[ASN][1000 genomes]
rs1719041	0.85[ASN][1000 genomes]
rs1719337	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719343	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1719345	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719350	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719351	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719352	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719354	0.99[ASN][1000 genomes]
rs1719358	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719359	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1719360	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719363	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1879895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2103056	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253906	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2461657	0.92[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2948555	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34866689	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4503741	0.83[ASN][1000 genomes]
rs4779461	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779672	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779673	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779674	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4779676	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4779677	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4779681	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72625154	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs939976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs939977	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs939978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs939979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv482572	chr15:30118905-30304529	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv456739	chr15:30178614-30366247	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv568716	chr15:30178614-30366247	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 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	chr15:30213400-30218800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:30215000-30218600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:30215200-30218600	Enhancers	Fetal Heart	heart
4	chr15:30215800-30218600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:30216000-30218600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr15:30216000-30218800	Enhancers	Fetal Intestine Large	intestine
7	chr15:30216200-30218600	Enhancers	Fetal Intestine Small	intestine
8	chr15:30216400-30218400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:30216400-30218400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:30216400-30218600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr15:30216400-30218800	Enhancers	Placenta	Placenta
12	chr15:30216600-30218400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr15:30216600-30218600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:30216600-30218600	Flanking Active TSS	A549	lung
15	chr15:30216600-30218800	Enhancers	HMEC	breast
16	chr15:30216800-30218400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:30216800-30218800	Enhancers	HepG2	liver
18	chr15:30217000-30218400	Enhancers	Brain Anterior Caudate	brain
19	chr15:30217000-30218400	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:30217000-30218400	Enhancers	Stomach Mucosa	stomach
21	chr15:30217200-30218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:30217200-30218600	Enhancers	Liver	Liver
23	chr15:30217200-30218600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr15:30217400-30218400	Enhancers	Hela-S3	cervix
25	chr15:30217400-30218600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr15:30217400-30218800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:30217400-30229200	Weak transcription	Gastric	stomach
28	chr15:30217800-30218600	Enhancers	Brain Angular Gyrus	brain
29	chr15:30217800-30218600	Enhancers	Brain Hippocampus Middle	brain
30	chr15:30218000-30218400	Enhancers	Esophagus	oesophagus
31	chr15:30218000-30218600	Enhancers	NH-A	brain
32	chr15:30218200-30218600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr15:30218200-30218800	Enhancers	NHEK	skin
34	chr15:30218200-30220000	Weak transcription	Lung	lung
35	chr15:30218200-30226200	Weak transcription	Brain Substantia Nigra	brain
36	chr15:30218200-30227600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:30218200-30236200	Weak transcription	Aorta	Aorta

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