Variant report

Variant	rs2301272
Chromosome Location	chr15:74286482-74286483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74286294-74287981	U87	brain:	n/a	n/a
2	TAF1	chr15:74286288-74287259	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr15:74285917-74287853	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr15:74286454-74287996	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:74286447-74287576	PFSK-1	brain:	n/a	n/a
6	REST	chr15:74286209-74287576	H1-neurons	neurons:	n/a	chr15:74287414-74287428 chr15:74287374-74287394
7	HCFC1	chr15:74286194-74288061	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:74286064-74287231	H1-neurons	neurons:	n/a	n/a
9	STAT1	chr15:74286113-74287192	Hela-S3	cervix:	n/a	chr15:74287130-74287141 chr15:74286207-74286219
10	MAZ	chr15:74286060-74287960	IMR90	lung:	n/a	chr15:74286211-74286221
11	REST	chr15:74286279-74287198	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr15:74286443-74287972	U87	brain:	n/a	n/a
13	MXI1	chr15:74286248-74288090	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74284343..74287090-chr15:74322488..74325455,2	K562	blood:
2	chr15:74281335..74284539-chr15:74284801..74290369,7	MCF-7	breast:
3	chr15:74284750..74286727-chr15:74339557..74341307,2	K562	blood:
4	chr15:74276805..74281902-chr15:74284117..74288991,5	K562	blood:

Variant related genes	Relation type
PML	TF binding region
STOML1	TF binding region
ENSG00000140464	Chromatin interaction
ENSG00000067221	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12324082	0.93[ASN][1000 genomes]
rs12324916	0.93[ASN][1000 genomes]
rs16958591	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1984525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984526	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289411	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289412	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289413	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415187	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28491832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501585	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664814	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784560	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7495728	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8023773	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038882	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039455	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040503	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042532	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9920026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74284600-74286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:74284600-74286600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:74284600-74286600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:74284600-74286600	Enhancers	Gastric	stomach
5	chr15:74284600-74286600	Enhancers	Lung	lung
6	chr15:74284600-74286600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr15:74284600-74286600	Enhancers	Spleen	Spleen
8	chr15:74284800-74286600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr15:74284800-74286600	Enhancers	Esophagus	oesophagus
10	chr15:74284800-74286600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr15:74284800-74286800	Flanking Active TSS	Dnd41	blood
12	chr15:74284800-74287000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr15:74285000-74286600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:74285000-74286600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:74285200-74286600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr15:74285200-74286600	Weak transcription	Ovary	ovary
17	chr15:74285600-74286600	Flanking Active TSS	Fetal Brain Female	brain
18	chr15:74285600-74286800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr15:74285800-74286600	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr15:74285800-74286600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr15:74285800-74286800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr15:74285800-74286800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr15:74285800-74286800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr15:74285800-74287000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:74286000-74286600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:74286000-74286600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:74286000-74286600	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr15:74286000-74286600	Flanking Active TSS	Right Ventricle	heart
29	chr15:74286000-74286800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:74286000-74286800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:74286000-74286800	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr15:74286000-74286800	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr15:74286000-74286800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr15:74286000-74286800	Flanking Active TSS	Hela-S3	cervix
35	chr15:74286000-74287000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:74286000-74287000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:74286200-74286600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr15:74286200-74286600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:74286200-74286600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:74286200-74286600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr15:74286200-74286600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:74286200-74286600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:74286200-74286600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr15:74286200-74286600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:74286200-74286600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:74286200-74286600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr15:74286200-74286600	Flanking Active TSS	Colonic Mucosa	Colon
48	chr15:74286200-74286600	Flanking Active TSS	Fetal Brain Male	brain
49	chr15:74286200-74286600	Flanking Active TSS	HSMMtube	muscle
50	chr15:74286200-74286600	Flanking Active TSS	NHDF-Ad	bronchial

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