Variant report

Variant	rs71397249
Chromosome Location	chr15:72824961-72824962
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72815866..72818588-chr15:72824774..72827365,2	K562	blood:
2	chr15:72818708..72821361-chr15:72823099..72826429,3	MCF-7	breast:
3	chr15:72766046..72767737-chr15:72823509..72826265,3	MCF-7	breast:
4	chr15:72823930..72827989-chr15:72833132..72836726,3	K562	blood:
5	chr15:72764655..72767131-chr15:72823326..72825635,3	MCF-7	breast:
6	chr15:72822899..72825054-chr15:72825440..72828215,3	K562	blood:
7	chr15:72822899..72825054-chr15:72825440..72827687,2	K562	blood:
8	chr15:72824709..72826756-chr15:72830157..72833591,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166233	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12904334	0.83[ASN][1000 genomes]
rs12914829	0.91[ASN][1000 genomes]
rs17823279	1.00[AFR][1000 genomes]
rs35150214	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35263304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35592085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35712178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55865414	1.00[AFR][1000 genomes]
rs56387971	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
2	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv569947	chr15:72800853-72878772	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1054626	chr15:72811402-72867502	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv569948	chr15:72811402-72878772	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72769600-72832200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:72771600-72826000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:72775600-72832800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:72782600-72828400	Weak transcription	K562	blood
5	chr15:72792200-72830800	Weak transcription	HSMM	muscle
6	chr15:72793200-72831400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:72794200-72833200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:72794400-72831600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:72795200-72826000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:72796400-72833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:72796400-72833000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:72796800-72855400	Weak transcription	Esophagus	oesophagus
13	chr15:72797000-72833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:72798200-72833000	Weak transcription	Gastric	stomach
15	chr15:72804000-72828200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:72804400-72825600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:72805600-72848200	Weak transcription	Fetal Brain Male	brain
18	chr15:72806400-72831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:72806400-72833000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:72806600-72846800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:72807600-72833000	Weak transcription	Fetal Intestine Large	intestine
22	chr15:72808000-72826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:72808400-72826000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:72809000-72825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:72809000-72827800	Weak transcription	NHDF-Ad	bronchial
26	chr15:72809000-72833000	Weak transcription	Osteobl	bone
27	chr15:72809000-72855400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:72809200-72825400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr15:72809200-72829400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:72809200-72832800	Weak transcription	Fetal Lung	lung
31	chr15:72809400-72833000	Weak transcription	Adipose Nuclei	Adipose
32	chr15:72809600-72833000	Weak transcription	HSMMtube	muscle
33	chr15:72811400-72833200	Weak transcription	Right Ventricle	heart
34	chr15:72813600-72831400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:72814400-72825000	Weak transcription	NHEK	skin
36	chr15:72814400-72825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:72814400-72830800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:72814400-72831800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr15:72814400-72847000	Weak transcription	Ovary	ovary
40	chr15:72814800-72827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:72814800-72829800	Weak transcription	Brain Substantia Nigra	brain
42	chr15:72814800-72833000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:72814800-72859200	Weak transcription	Brain Angular Gyrus	brain
44	chr15:72815400-72830600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:72815600-72827000	Weak transcription	GM12878-XiMat	blood
46	chr15:72815600-72831800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:72815600-72832800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:72815600-72837200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:72815600-72838200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:72815800-72825400	Weak transcription	Primary T cells fromperipheralblood	blood

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