Variant report

Variant	rs3014867
Chromosome Location	chr1:153330184-153330185
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	RAD21	chr1:153330151-153330313	Hela-S3	cervix:	n/a	n/a
2	EP300	chr1:153330084-153330434	T-47D	breast:	n/a	n/a
3	FOS	chr1:153330101-153330425	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:153329999-153331433	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:153329795-153331570	HL-60	blood:	n/a	n/a
6	FOS	chr1:153329963-153330610	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F1	chr1:153329995-153330367	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:153330159-153330513	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr1:153330169-153330400	Hela-S3	cervix:	n/a	n/a
10	SMARCC1	chr1:153329315-153330517	Hela-S3	cervix:	n/a	n/a
11	FOS	chr1:153330055-153330539	MCF10A-Er-Src	breast:	n/a	n/a
12	NR2F2	chr1:153330005-153330555	MCF-7	breast:	n/a	n/a
13	CEBPB	chr1:153330029-153330510	MCF-7	breast:	n/a	chr1:153330242-153330253
14	MYC	chr1:153330024-153330645	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:153329930-153335431	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr1:153329533-153330804	MCF10A-Er-Src	breast:	n/a	chr1:153329579-153329593 chr1:153329582-153329591 chr1:153330211-153330222 chr1:153329581-153329590
17	CEBPD	chr1:153330156-153330368	HepG2	liver:	n/a	n/a
18	FOS	chr1:153330062-153330455	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr1:153330158-153330296	HepG2	liver:	n/a	chr1:153330242-153330253
20	EP300	chr1:153330159-153330392	Hela-S3	cervix:	n/a	n/a
21	E2F4	chr1:153330044-153330437	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr1:153330151-153330587	Hela-S3	cervix:	n/a	n/a
23	REST	chr1:153329998-153330850	HL-60	blood:	n/a	n/a
24	STAT3	chr1:153329484-153330531	MCF10A-Er-Src	breast:	n/a	chr1:153329579-153329593 chr1:153329582-153329591 chr1:153330211-153330222 chr1:153329581-153329590
25	CEBPB	chr1:153330060-153330438	HepG2	liver:	n/a	chr1:153330242-153330253
26	STAT3	chr1:153330096-153330368	Hela-S3	cervix:	n/a	chr1:153330211-153330222
27	SMC3	chr1:153330116-153330313	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr1:153330063-153330441	Hela-S3	cervix:	n/a	chr1:153330242-153330253
29	STAT3	chr1:153329446-153330680	MCF10A-Er-Src	breast:	n/a	chr1:153329579-153329593 chr1:153329582-153329591 chr1:153330211-153330222 chr1:153329581-153329590
30	CEBPB	chr1:153329950-153330550	MCF-7	breast:	n/a	chr1:153330242-153330253
31	SPI1	chr1:153329990-153330335	HL-60	blood:	n/a	chr1:153330203-153330216
32	POLR2A	chr1:153330024-153332086	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr1:153330103-153330437	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr1:153329911-153332005	HL-60	blood:	n/a	n/a
35	CHD2	chr1:153330146-153330324	Hela-S3	cervix:	n/a	n/a
36	STAT3	chr1:153329502-153330786	MCF10A-Er-Src	breast:	n/a	chr1:153329579-153329593 chr1:153329582-153329591 chr1:153330211-153330222 chr1:153329581-153329590
37	MYC	chr1:153330035-153330505	MCF10A-Er-Src	breast:	n/a	n/a
38	SPI1	chr1:153329922-153330916	HL-60	blood:	n/a	chr1:153330203-153330216 chr1:153329950-153329963
39	CEBPB	chr1:153330098-153330382	A549	lung:	n/a	chr1:153330242-153330253
40	POLR2A	chr1:153330117-153330544	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153327754..153330695-chr1:153517590..153520533,2	K562	blood:
2	chr1:153327790..153331196-chr1:153389246..153391874,3	MCF-7	breast:
3	chr1:153329431..153332677-chr1:153411266..153413745,3	MCF-7	breast:
4	chr1:153327739..153331289-chr1:153432933..153435895,3	MCF-7	breast:
5	chr1:153327681..153330764-chr1:153538971..153541656,5	MCF-7	breast:
6	chr1:153323806..153326638-chr1:153326676..153330193,5	MCF-7	breast:
7	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
8	chr1:153318218..153321043-chr1:153328281..153331716,3	MCF-7	breast:
9	chr1:153326747..153345757-chr1:153352900..153372983,150	MCF-7	breast:
10	chr1:153329201..153331656-chr1:153387382..153389992,2	MCF-7	breast:
11	chr1:145381186..145383142-chr1:153329584..153331437,2	MCF-7	breast:
12	chr1:153329373..153332340-chr1:153432969..153437036,4	MCF-7	breast:

Variant related genes	Relation type
S100A9	TF binding region
ENSG00000184330	Chromatin interaction
ENSG00000263841	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000163218	Chromatin interaction
ENSG00000143556	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000197364	Chromatin interaction
ENSG00000143546	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000224784	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000237008	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3006478	1.00[AMR][1000 genomes]
rs3006486	1.00[AMR][1000 genomes]
rs3014809	1.00[AMR][1000 genomes]
rs3014868	1.00[AMR][1000 genomes]
rs3014872	1.00[AMR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153316200-153330400	Weak transcription	Right Atrium	heart
2	chr1:153327400-153330800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:153327800-153330200	Enhancers	Placenta	Placenta
4	chr1:153328200-153330800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:153328400-153330600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:153328800-153330200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:153328800-153330800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:153328800-153331200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:153329000-153330200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:153329200-153330400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:153329200-153330400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr1:153329200-153330800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:153329400-153330200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:153329400-153330200	Enhancers	Adipose Nuclei	Adipose
15	chr1:153329400-153330400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:153329400-153330400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:153329400-153330800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:153329400-153331000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:153329400-153331200	Enhancers	Hela-S3	cervix
20	chr1:153329600-153330200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr1:153329600-153330200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:153329600-153330400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:153329600-153331000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr1:153329600-153331000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:153329600-153331000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:153329600-153331000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:153329600-153331000	Enhancers	Fetal Intestine Large	intestine
28	chr1:153329600-153331400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:153329600-153332000	Enhancers	Fetal Intestine Small	intestine
30	chr1:153329800-153330400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:153329800-153330600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:153329800-153330600	Enhancers	Spleen	Spleen
33	chr1:153329800-153330800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:153329800-153331000	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:153329800-153331000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:153329800-153331000	Enhancers	Liver	Liver
37	chr1:153329800-153331200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:153329800-153331200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:153329800-153331200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:153329800-153331200	Enhancers	Fetal Thymus	thymus
41	chr1:153330000-153330200	Flanking Active TSS	HMEC	breast
42	chr1:153330000-153330400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:153330000-153330400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:153330000-153330400	Enhancers	GM12878-XiMat	blood
45	chr1:153330000-153330400	Enhancers	NHEK	skin
46	chr1:153330000-153330600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr1:153330000-153330800	Weak transcription	Lung	lung
48	chr1:153330000-153332600	Active TSS	Esophagus	oesophagus

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