Variant report

Variant	rs12594325
Chromosome Location	chr15:43028511-43028512
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr15:43028439-43029644	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:43027826-43029760	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:43028459-43028685	A549	lung:	n/a	n/a
4	SIN3AK20	chr15:43028479-43028845	K562	blood:	n/a	n/a
5	POLR2A	chr15:43028037-43028524	HepG2	liver:	n/a	n/a
6	MAZ	chr15:43028138-43029884	IMR90	lung:	n/a	n/a
7	POLR2A	chr15:43028511-43030037	K562	blood:	n/a	n/a
8	POLR2A	chr15:43028145-43028637	HepG2	liver:	n/a	n/a
9	SIN3A	chr15:43028346-43029681	H1-hESC	embryonic stem cell:	n/a	chr15:43029073-43029086
10	YY1	chr15:43028392-43029668	K562	blood:	n/a	chr15:43029069-43029083 chr15:43029075-43029089
11	POLR2A	chr15:43028439-43028539	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:43028069-43029712	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:43028485-43028565	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:43028373-43029710	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr15:43028085-43029764	K562	blood:	n/a	n/a
16	HCFC1	chr15:43028462-43030484	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr15:43027862-43029754	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr15:43027827-43029802	Hela-S3	cervix:	n/a	n/a
19	UBTF	chr15:43028471-43029696	K562	blood:	n/a	n/a
20	POLR2A	chr15:43028280-43029914	H1-hESC	embryonic stem cell:	n/a	n/a
21	CCNT2	chr15:43028482-43029698	K562	blood:	n/a	n/a
22	UBTF	chr15:43028408-43029723	K562	blood:	n/a	n/a
23	POLR2A	chr15:43028489-43029714	GM18505	blood:	n/a	n/a
24	SMARCB1	chr15:43028469-43029713	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr15:43028171-43030086	IMR90	lung:	n/a	n/a
26	RCOR1	chr15:43028432-43028523	K562	blood:	n/a	n/a
27	POLR2A	chr15:43028336-43028734	K562	blood:	n/a	n/a
28	MAZ	chr15:43028502-43029839	K562	blood:	n/a	n/a
29	HMGN3	chr15:43028437-43029702	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:43028463-43028513	LNCaP	prostate:	n/a
2	chr15:43028463-43028513	GM12878	blood:	n/a
3	chr15:43028463-43028513	AG09309	skin:	n/a
4	chr15:43028463-43028513	SKMC	muscle:	n/a
5	chr15:43028463-43028513	BE2_C	brain:	n/a
6	chr15:43028463-43028513	HCM	heart:	n/a
7	chr15:43028463-43028513	GM19239	blood:	n/a
8	chr15:43028463-43028513	BJ	skin:	n/a
9	chr15:43028463-43028513	ECC-1	luminal epithelium:	n/a
10	chr15:43028463-43028513	HepG2	liver:	n/a
11	chr15:43028463-43028513	CMK	blood:	n/a
12	chr15:43028463-43028513	AG04450	lung:	fetal
13	chr15:43028463-43028513	HPAEpiC	pulmonary alveolar:	n/a
14	chr15:43028463-43028513	HNPCEpiC	eye:	n/a
15	chr15:43028463-43028513	PrEC	prostate:	n/a
16	chr15:43028463-43028513	NHDF-neo	bronchial:	n/a
17	chr15:43028463-43028513	AG04449	skin:	fetal
18	chr15:43028463-43028513	Jurkat	blood:	n/a
19	chr15:43028463-43028513	A549	lung:	n/a
20	chr15:43028463-43028513	H1-hESC	embryonic stem cell:	embryo
21	chr15:43028463-43028513	HCF	heart:	n/a
22	chr15:43028463-43028513	HEK293	kidney:	embryo
23	chr15:43028463-43028513	HCT-116	colon:	n/a
24	chr15:43028463-43028513	NB4	blood:	n/a
25	chr15:43028463-43028513	HMEC	breast:	n/a
26	chr15:43028463-43028513	MCF10A-Er-Src	breast:	n/a
27	chr15:43028463-43028513	HRCEpiC	kidney:	n/a
28	chr15:43028463-43028513	NHBE	bronchial:	n/a
29	chr15:43028463-43028513	MCF-7	breast:	n/a
30	chr15:43028463-43028513	HIPEpiC	eye:	n/a
31	chr15:43028463-43028513	HRE	kidney:	n/a
32	chr15:43028463-43028513	SK-N-SH_RA	brain:	n/a
33	chr15:43028463-43028513	GM12891	blood:	n/a
34	chr15:43028463-43028513	HAEpiC	amniotic membrane:	n/a
35	chr15:43028463-43028513	PANC-1	pancreas:	n/a
36	chr15:43028463-43028513	Hela-S3	cervix:	n/a
37	chr15:43028463-43028513	IMR90	lung:	fetal
38	chr15:43028463-43028513	T-47D	breast:	n/a
39	chr15:43028463-43028513	HCPEpiC	choroid plexus:	n/a
40	chr15:43028463-43028513	HRPEpiC	eye:	n/a
41	chr15:43028463-43028513	AG10803	skin:	n/a
42	chr15:43028463-43028513	RPTEC	kidney:	n/a
43	chr15:43028463-43028513	ovcar-3	ovarian:	n/a
44	chr15:43028463-43028513	Hepatocyte	liver:	n/a
45	chr15:43028463-43028513	ProgFib	skin:	n/a
46	chr15:43028463-43028513	GM06990	blood:	n/a
47	chr15:43028463-43028513	HUVEC	blood vessel:	n/a
48	chr15:43028463-43028513	NT2-D1	testis:	n/a
49	chr15:43028463-43028513	GM12892	blood:	n/a
50	chr15:43028463-43028513	HEEpiC	esophagus:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43019448..43022159-chr15:43025632..43028520,2	MCF-7	breast:
2	chr15:43014319..43018768-chr15:43027782..43030873,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246283	TF binding region
ENSG00000246283	CpG island
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11632809	0.85[AFR][1000 genomes]
rs12323990	0.98[ASN][1000 genomes]
rs12591415	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592374	1.00[ASN][1000 genomes]
rs12592573	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594378	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12594600	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594696	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594699	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12594724	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594725	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594765	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594837	0.98[ASN][1000 genomes]
rs12595722	0.83[ASN][1000 genomes]
rs16957055	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16957061	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16957063	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16957109	1.00[AMR][1000 genomes]
rs16957120	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28431056	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437884	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28508072	1.00[EUR][1000 genomes]
rs28542286	0.88[AFR][1000 genomes]
rs28661826	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28680600	0.95[ASN][1000 genomes]
rs34302400	0.85[AFR][1000 genomes]
rs3742992	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3742995	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4334272	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56046122	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58237318	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs58548142	0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs60723187	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61747153	0.98[ASN][1000 genomes]
rs7169231	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7169238	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7181238	0.86[AFR][1000 genomes]
rs73410923	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73410927	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410931	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410937	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410940	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410961	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410969	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410971	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410972	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410973	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8028365	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs8028699	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8033336	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8036733	0.98[ASN][1000 genomes]
rs8042980	0.84[AFR][1000 genomes]
rs9920562	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv3410012	chr15:43027685-43030233	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3344912	chr15:43028085-43030633	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43027600-43028600	Flanking Active TSS	Colon Smooth Muscle	Colon
2	chr15:43027800-43028600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr15:43027800-43028600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:43027800-43028600	Flanking Active TSS	Hela-S3	cervix
5	chr15:43027800-43028800	Enhancers	Stomach Mucosa	stomach
6	chr15:43028000-43028600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:43028000-43028600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:43028000-43028600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:43028000-43028600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:43028000-43028600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:43028000-43028600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr15:43028000-43028600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr15:43028000-43028600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr15:43028000-43028600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr15:43028000-43028600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:43028000-43028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:43028000-43028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:43028000-43028600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:43028000-43028600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:43028000-43028600	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr15:43028000-43028600	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr15:43028000-43028600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr15:43028000-43028600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr15:43028000-43028600	Flanking Active TSS	Colonic Mucosa	Colon
25	chr15:43028000-43028600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr15:43028000-43028600	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr15:43028000-43028600	Flanking Active TSS	Placenta	Placenta
28	chr15:43028000-43028600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
29	chr15:43028000-43028600	Flanking Active TSS	Pancreas	Pancrea
30	chr15:43028000-43028600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr15:43028000-43028600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr15:43028000-43028600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr15:43028000-43028600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr15:43028000-43028600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr15:43028000-43028600	Flanking Active TSS	GM12878-XiMat	blood
36	chr15:43028000-43028600	Flanking Active TSS	HepG2	liver
37	chr15:43028000-43028600	Flanking Active TSS	HUVEC	blood vessel
38	chr15:43028000-43028600	Flanking Active TSS	K562	blood
39	chr15:43028000-43028600	Flanking Active TSS	NHEK	skin
40	chr15:43028000-43028800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr15:43028000-43028800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr15:43028000-43028800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr15:43028000-43029800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr15:43028000-43030000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr15:43028000-43030000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:43028000-43030000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr15:43028200-43028600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr15:43028200-43028600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:43028200-43028600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:43028200-43028600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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