Variant report

Variant	rs2301273
Chromosome Location	chr15:74286882-74286883
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	chr15:74286663-74287903	GM15510	blood:	n/a	n/a
2	STAT3	chr15:74286724-74287184	MCF10A-Er-Src	breast:	n/a	chr15:74287130-74287141
3	POLR2A	chr15:74286294-74287981	U87	brain:	n/a	n/a
4	POLR2A	chr15:74286493-74287317	SK-N-MC	brain:	n/a	n/a
5	ELK1	chr15:74286875-74287028	K562	blood:	n/a	n/a
6	SMC3	chr15:74286784-74287151	Hela-S3	cervix:	n/a	chr15:74286989-74286999
7	STAT1	chr15:74286676-74287234	K562	blood:	n/a	chr15:74287130-74287141
8	MAFK	chr15:74286727-74286934	K562	blood:	n/a	n/a
9	SPI1	chr15:74286840-74287138	K562	blood:	n/a	chr15:74287010-74287017 chr15:74287005-74287014 chr15:74287007-74287020
10	ELF1	chr15:74286674-74287286	GM12878	blood:	n/a	chr15:74287007-74287020
11	MAX	chr15:74286597-74287265	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr15:74286666-74287965	GM12892	blood:	n/a	n/a
13	GTF2F1	chr15:74286832-74287156	Hela-S3	cervix:	n/a	n/a
14	ELF1	chr15:74286571-74287747	GM12878	blood:	n/a	chr15:74287007-74287020
15	GABPA	chr15:74286737-74287272	K562	blood:	n/a	n/a
16	TCF7L2	chr15:74286703-74286960	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr15:74286793-74287398	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F4	chr15:74286748-74287098	GM12878	blood:	n/a	n/a
19	EP300	chr15:74286705-74287145	GM12878	blood:	n/a	chr15:74287005-74287019
20	POLR2A	chr15:74286498-74287478	PBDE	blood:	n/a	n/a
21	REST	chr15:74286723-74287168	SK-N-SH	brain:	n/a	n/a
22	USF1	chr15:74286755-74287022	SK-N-SH_RA	brain:	n/a	n/a
23	POLR2A	chr15:74286584-74287241	SK-N-SH	brain:	n/a	n/a
24	TAF1	chr15:74286765-74287230	Hela-S3	cervix:	n/a	n/a
25	MTA3	chr15:74286684-74287063	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:74286627-74287392	ProgFib	skin:	n/a	n/a
27	CTCF	chr15:74286840-74286990	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:74286670-74287193	Gliobla	brain:	n/a	n/a
29	POLR2A	chr15:74286649-74287896	GM18951	blood:	n/a	n/a
30	TBP	chr15:74286786-74287242	Hela-S3	cervix:	n/a	n/a
31	SP2	chr15:74286753-74287145	K562	blood:	n/a	chr15:74286916-74286931
32	ELF1	chr15:74286729-74287301	MCF-7	breast:	n/a	chr15:74287007-74287020
33	SPI1	chr15:74286779-74287163	GM12878	blood:	n/a	chr15:74287010-74287017 chr15:74287005-74287014 chr15:74287007-74287020
34	TAF1	chr15:74286828-74287258	K562	blood:	n/a	n/a
35	POLR2A	chr15:74286627-74288015	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:74286682-74287888	GM12892	blood:	n/a	n/a
37	RCOR1	chr15:74286694-74287056	HepG2	liver:	n/a	n/a
38	POU2F2	chr15:74286703-74287260	GM12891	blood:	n/a	chr15:74286855-74286867
39	CREB1	chr15:74286735-74287097	A549	lung:	n/a	n/a
40	POLR2A	chr15:74286693-74287256	Hela-S3	cervix:	n/a	n/a
41	IRF1	chr15:74286724-74288111	K562	blood:	n/a	chr15:74287129-74287143 chr15:74287128-74287142 chr15:74287129-74287143 chr15:74287129-74287142 chr15:74287132-74287142 chr15:74287693-74287705 chr15:74287345-74287354 chr15:74287006-74287015
42	ELF1	chr15:74286735-74287127	HepG2	liver:	n/a	chr15:74287007-74287020
43	POLR2A	chr15:74286661-74287300	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr15:74286665-74288028	GM18505	blood:	n/a	n/a
45	CTCF	chr15:74286800-74286950	HUVEC	blood vessel:	n/a	n/a
46	ZNF143	chr15:74286821-74287169	K562	blood:	n/a	n/a
47	FOS	chr15:74286875-74287148	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr15:74286702-74287298	K562	blood:	n/a	n/a
49	GABPA	chr15:74286762-74287111	HepG2	liver:	n/a	n/a
50	E2F4	chr15:74286755-74287159	MCF10A-Er-Src	breast:	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	chr15:74276805..74281902-chr15:74284117..74288991,5	K562	blood:
4	chr15:74286840..74288514-chr15:74288531..74291100,2	MCF-7	breast:

Variant related genes	Relation type
STOML1	TF binding region
PML	TF binding region
ENSG00000067221	Chromatin interaction
ENSG00000140464	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	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289413	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301272	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	chr15:74284800-74287000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr15:74285800-74287000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:74286000-74287000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:74286000-74287000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:74286200-74287000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr15:74286200-74287000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr15:74286200-74287000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr15:74286200-74287400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:74286200-74287800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr15:74286200-74288400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:74286200-74288400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr15:74286200-74288600	Active TSS	Fetal Intestine Small	intestine
13	chr15:74286200-74290000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr15:74286400-74287000	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr15:74286400-74287000	Flanking Active TSS	Placenta	Placenta
16	chr15:74286400-74287000	Flanking Active TSS	HUVEC	blood vessel
17	chr15:74286400-74287400	Active TSS	Fetal Muscle Trunk	muscle
18	chr15:74286400-74287600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:74286400-74287800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:74286400-74287800	Bivalent/Poised TSS	HepG2	liver
21	chr15:74286400-74288000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:74286400-74288000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr15:74286400-74288000	Active TSS	A549	lung
24	chr15:74286400-74288200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:74286400-74288200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:74286400-74288600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:74286400-74289400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:74286400-74289400	Active TSS	Aorta	Aorta
29	chr15:74286400-74289800	Active TSS	Psoas Muscle	Psoas
30	chr15:74286400-74290200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:74286600-74287000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:74286600-74287000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
33	chr15:74286600-74287400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:74286600-74287400	Active TSS	Brain Anterior Caudate	brain
35	chr15:74286600-74287400	Active TSS	Brain Cingulate Gyrus	brain
36	chr15:74286600-74287400	Active TSS	Brain Germinal Matrix	brain
37	chr15:74286600-74287400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr15:74286600-74287400	Active TSS	Fetal Brain Male	brain
39	chr15:74286600-74287400	Active TSS	Pancreas	Pancrea
40	chr15:74286600-74287600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:74286600-74287600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:74286600-74287600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:74286600-74287600	Active TSS	Brain Hippocampus Middle	brain
44	chr15:74286600-74287600	Active TSS	Fetal Brain Female	brain
45	chr15:74286600-74287600	Active TSS	Fetal Heart	heart
46	chr15:74286600-74287800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr15:74286600-74287800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:74286600-74287800	Active TSS	Spleen	Spleen
49	chr15:74286600-74288000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr15:74286600-74288000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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