Variant report

Variant	rs3816198
Chromosome Location	chr15:74284209-74284210
allele	C/G
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	IRF1	chr15:74283930-74284890	K562	blood:	n/a	chr15:74284629-74284643 chr15:74284114-74284127 chr15:74284114-74284128
2	POLR2A	chr15:74284009-74284618	K562	blood:	n/a	n/a
3	BHLHE40	chr15:74283964-74284251	K562	blood:	n/a	n/a
4	TAL1	chr15:74283888-74284406	K562	blood:	n/a	chr15:74284197-74284205
5	SIN3AK20	chr15:74284067-74285006	MCF-7	breast:	n/a	n/a
6	MYC	chr15:74284201-74284250	K562	blood:	n/a	n/a
7	POLR2A	chr15:74283943-74284961	K562	blood:	n/a	n/a
8	POLR2A	chr15:74283688-74284776	K562	blood:	n/a	n/a
9	CEBPB	chr15:74284015-74284233	K562	blood:	n/a	n/a
10	RCOR1	chr15:74283743-74284890	K562	blood:	n/a	n/a
11	GABPA	chr15:74283919-74284231	K562	blood:	n/a	n/a
12	CCNT2	chr15:74284009-74284897	K562	blood:	n/a	n/a
13	PML	chr15:74283922-74284385	K562	blood:	n/a	n/a
14	SIN3AK20	chr15:74284207-74284947	PANC-1	pancreas:	n/a	n/a
15	STAT3	chr15:74283606-74284256	MCF10A-Er-Src	breast:	n/a	chr15:74284116-74284127 chr15:74283713-74283722 chr15:74283712-74283721
16	POLR2A	chr15:74283680-74285040	K562	blood:	n/a	n/a
17	HCFC1	chr15:74283453-74285154	Hela-S3	cervix:	n/a	n/a
18	MAX	chr15:74283719-74284919	K562	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
19	GATA1	chr15:74283743-74285019	K562	blood:	n/a	chr15:74284150-74284166 chr15:74284152-74284164 chr15:74284153-74284162
20	MXI1	chr15:74283772-74284853	K562	blood:	n/a	n/a
21	MAZ	chr15:74283923-74284936	K562	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
22	POLR2A	chr15:74283936-74284352	K562	blood:	n/a	n/a
23	ELF1	chr15:74283963-74284267	K562	blood:	n/a	n/a
24	SIN3A	chr15:74283928-74284928	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr15:74284092-74284896	HepG2	liver:	n/a	n/a
26	RCOR1	chr15:74283979-74285211	K562	blood:	n/a	n/a
27	PML	chr15:74284208-74285052	GM12878	blood:	n/a	n/a
28	MAZ	chr15:74283796-74285324	IMR90	lung:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
29	GATA2	chr15:74283988-74284352	K562	blood:	n/a	chr15:74284150-74284166 chr15:74284152-74284164 chr15:74284153-74284162
30	TRIM28	chr15:74283944-74284902	K562	blood:	n/a	n/a
31	GATA2	chr15:74283934-74284377	K562	blood:	n/a	chr15:74284150-74284166 chr15:74284152-74284164 chr15:74284153-74284162
32	MYC	chr15:74283891-74284897	K562	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
33	HDAC2	chr15:74283869-74284293	K562	blood:	n/a	n/a
34	ZMIZ1	chr15:74284018-74284927	K562	blood:	n/a	n/a
35	SIN3AK20	chr15:74284052-74284845	K562	blood:	n/a	n/a
36	POLR2A	chr15:74283830-74284995	K562	blood:	n/a	n/a
37	CHD1	chr15:74283552-74285111	IMR90	lung:	n/a	chr15:74284583-74284593
38	MXI1	chr15:74282969-74285477	SK-N-SH	brain:	n/a	n/a
39	MYC	chr15:74283770-74284967	K562	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
40	ZC3H11A	chr15:74284098-74284213	K562	blood:	n/a	n/a
41	POLR2A	chr15:74283981-74284342	K562	blood:	n/a	n/a
42	NR2F2	chr15:74283637-74285138	K562	blood:	n/a	n/a
43	CBX3	chr15:74283950-74284343	K562	blood:	n/a	n/a
44	TBL1XR1	chr15:74283753-74284281	K562	blood:	n/a	n/a
45	ARID3A	chr15:74283952-74284372	K562	blood:	n/a	n/a
46	MAX	chr15:74283904-74284896	K562	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
47	EP300	chr15:74284016-74284280	K562	blood:	n/a	n/a
48	EP300	chr15:74283900-74285228	K562	blood:	n/a	chr15:74284586-74284602 chr15:74284713-74284722
49	UBTF	chr15:74283624-74284850	K562	blood:	n/a	n/a
50	TBP	chr15:74283925-74284975	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74282640..74284615-chr15:74313984..74316844,2	MCF-7	breast:
2	chr15:74281335..74284539-chr15:74284801..74290369,7	MCF-7	breast:
3	chr15:74276805..74281902-chr15:74284117..74288991,5	K562	blood:
4	chr15:74283818..74286051-chr15:74906696..74909135,2	MCF-7	breast:
5	chr15:74278701..74281213-chr15:74283008..74286318,3	MCF-7	breast:

Variant related genes	Relation type
PML	TF binding region
STOML1	TF binding region
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000140464	Chromatin interaction
ENSG00000067221	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11072460	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072468	0.93[ASN][1000 genomes]
rs16869	0.93[ASN][1000 genomes]
rs2415188	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816197	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4993000	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7171694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174985	0.83[EUR][1000 genomes]
rs7182319	0.97[ASN][1000 genomes]
rs9630436	0.97[AMR][1000 genomes];0.98[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	chr15:74282600-74284400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr15:74282800-74285800	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr15:74283000-74284400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr15:74283000-74284400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr15:74283000-74284400	Flanking Active TSS	Osteobl	bone
6	chr15:74283000-74285200	Enhancers	Fetal Heart	heart
7	chr15:74283200-74284400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:74283200-74285400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:74283400-74284400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:74283400-74284400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:74283400-74284400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:74283400-74284400	Flanking Active TSS	HUVEC	blood vessel
13	chr15:74283400-74284800	Active TSS	Right Atrium	heart
14	chr15:74283400-74285000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:74283600-74284400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr15:74283600-74284400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:74283600-74284400	Flanking Active TSS	Liver	Liver
18	chr15:74283600-74284400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr15:74283600-74284400	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr15:74283600-74284400	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr15:74283600-74284600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:74283600-74284800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:74283600-74285200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:74283600-74285200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr15:74283800-74284400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr15:74283800-74284400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr15:74283800-74284400	Flanking Active TSS	Placenta	Placenta
28	chr15:74283800-74284400	Flanking Active TSS	NH-A	brain
29	chr15:74283800-74284600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:74283800-74284600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr15:74283800-74284800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:74283800-74284800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr15:74283800-74284800	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr15:74283800-74284800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr15:74283800-74284800	Active TSS	Left Ventricle	heart
36	chr15:74283800-74285000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr15:74283800-74285000	Active TSS	Fetal Kidney	kidney
38	chr15:74283800-74285000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr15:74283800-74285000	Active TSS	Psoas Muscle	Psoas
40	chr15:74283800-74285200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr15:74284000-74284400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr15:74284000-74284400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr15:74284000-74284400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:74284000-74284400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:74284000-74284400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:74284000-74284400	Active TSS	Fetal Brain Male	brain
47	chr15:74284000-74284600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr15:74284000-74284600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:74284000-74284600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:74284000-74284600	Active TSS	Aorta	Aorta

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