Variant report

Variant	rs547984115
Chromosome Location	chr1:158979854-158979855
allele	-/TTACTGATTTATCTCC
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	TAF1	chr1:158979427-158979918	GM12892	blood:	n/a	n/a
2	MYC	chr1:158979479-158979975	K562	blood:	n/a	n/a
3	BCLAF1	chr1:158979353-158980167	GM12878	blood:	n/a	chr1:158979355-158979364
4	STAT3	chr1:158978735-158980510	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
5	FOS	chr1:158979336-158980577	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
6	CCNT2	chr1:158979674-158980235	K562	blood:	n/a	n/a
7	E2F4	chr1:158979132-158979924	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr1:158978733-158980031	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:158978406-158980376	GM12892	blood:	n/a	n/a
10	TBP	chr1:158978436-158980668	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:158978455-158980617	GM18951	blood:	n/a	n/a
12	FOS	chr1:158979127-158980621	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
13	POLR2A	chr1:158978428-158980356	GM12892	blood:	n/a	n/a
14	CUX1	chr1:158979477-158980048	K562	blood:	n/a	n/a
15	KAP1	chr1:158978548-158980551	HEK293	kidney:	n/a	chr1:158979354-158979363
16	REST	chr1:158979450-158980007	PFSK-1	brain:	n/a	n/a
17	CEBPB	chr1:158979315-158980401	IMR90	lung:	n/a	n/a
18	STAT2	chr1:158979402-158980141	K562	blood:	n/a	chr1:158979640-158979655
19	FOS	chr1:158979119-158980165	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365
20	YY1	chr1:158978531-158980036	GM12878	blood:	n/a	chr1:158979303-158979311
21	IKZF1	chr1:158979567-158980134	GM12878	blood:	n/a	n/a
22	RCOR1	chr1:158979694-158980030	K562	blood:	n/a	n/a
23	POLR2A	chr1:158979432-158980288	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr1:158978508-158980689	GM12892	blood:	n/a	n/a
25	STAT5A	chr1:158979466-158980057	GM12878	blood:	n/a	n/a
26	YY1	chr1:158979153-158979923	SK-N-SH_RA	brain:	n/a	chr1:158979303-158979311
27	EP300	chr1:158979423-158980722	Hela-S3	cervix:	n/a	chr1:158980664-158980674
28	POLR2A	chr1:158978461-158980586	GM18526	blood:	n/a	n/a
29	TAF1	chr1:158979464-158980042	SK-N-SH	brain:	n/a	n/a
30	EP300	chr1:158979512-158980152	K562	blood:	n/a	n/a
31	STAT2	chr1:158979406-158980014	K562	blood:	n/a	chr1:158979640-158979655
32	CUX1	chr1:158979375-158980175	GM12878	blood:	n/a	n/a
33	MXI1	chr1:158978956-158981134	IMR90	lung:	n/a	n/a
34	POLR2A	chr1:158979429-158979998	SK-N-MC	brain:	n/a	n/a
35	RUNX3	chr1:158979382-158979910	GM12878	blood:	n/a	n/a
36	TAF1	chr1:158979444-158979921	GM12891	blood:	n/a	n/a
37	RELA	chr1:158978511-158979901	GM19099	blood:	n/a	chr1:158979114-158979123 chr1:158979114-158979123
38	STAT1	chr1:158979418-158979963	K562	blood:	n/a	chr1:158979608-158979619
39	TBL1XR1	chr1:158979588-158979993	K562	blood:	n/a	n/a
40	CEBPB	chr1:158979563-158979997	K562	blood:	n/a	n/a
41	MXI1	chr1:158979334-158980068	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:158978459-158981042	GM15510	blood:	n/a	n/a
43	STAT5A	chr1:158979556-158980115	K562	blood:	n/a	n/a
44	KAP1	chr1:158978346-158980205	U2OS	brain:	n/a	chr1:158979354-158979363
45	GTF2F1	chr1:158979204-158980177	Hela-S3	cervix:	n/a	n/a
46	GATA2	chr1:158979561-158980192	HUVEC	blood vessel:	n/a	chr1:158979774-158979788
47	STAT5A	chr1:158979444-158980082	GM12878	blood:	n/a	n/a
48	RCOR1	chr1:158978512-158980241	GM12878	blood:	n/a	n/a
49	BRCA1	chr1:158979337-158980558	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:158979131-158980643	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158979841-158979891	H1-hESC	embryonic stem cell:	embryo
2	chr1:158979810-158979860	GM12892	blood:	n/a
3	chr1:158979841-158979891	HAEpiC	amniotic membrane:	n/a
4	chr1:158979841-158979891	ovcar-3	ovarian:	n/a
5	chr1:158979841-158979891	T-47D	breast:	n/a
6	chr1:158979841-158979891	GM19239	blood:	n/a
7	chr1:158979810-158979860	T-47D	breast:	n/a
8	chr1:158979810-158979860	HRCEpiC	kidney:	n/a
9	chr1:158979810-158979860	NB4	blood:	n/a
10	chr1:158979841-158979891	GM12892	blood:	n/a
11	chr1:158979810-158979860	HUVEC	blood vessel:	n/a
12	chr1:158979841-158979891	HCPEpiC	choroid plexus:	n/a
13	chr1:158979841-158979891	NT2-D1	testis:	n/a
14	chr1:158979810-158979860	A549	lung:	n/a
15	chr1:158979841-158979891	AG09319	gingival:	n/a
16	chr1:158979810-158979860	HRE	kidney:	n/a
17	chr1:158979841-158979891	BE2_C	brain:	n/a
18	chr1:158979841-158979891	HCF	heart:	n/a
19	chr1:158979810-158979860	Caco-2	colon:	n/a
20	chr1:158979841-158979891	GM06990	blood:	n/a
21	chr1:158979841-158979891	IMR90	lung:	fetal
22	chr1:158979810-158979860	HEK293	kidney:	embryo
23	chr1:158979841-158979891	AG04450	lung:	fetal
24	chr1:158979841-158979891	HIPEpiC	eye:	n/a
25	chr1:158979841-158979891	AG10803	skin:	n/a
26	chr1:158979810-158979860	HCM	heart:	n/a
27	chr1:158979841-158979891	Hepatocyte	liver:	n/a
28	chr1:158979841-158979891	NHBE	bronchial:	n/a
29	chr1:158979810-158979860	LNCaP	prostate:	n/a
30	chr1:158979810-158979860	GM12891	blood:	n/a
31	chr1:158979841-158979891	AG04449	skin:	fetal
32	chr1:158979810-158979860	CMK	blood:	n/a
33	chr1:158979810-158979860	AG09309	skin:	n/a
34	chr1:158979810-158979860	NHBE	bronchial:	n/a
35	chr1:158979810-158979860	NHDF-neo	bronchial:	n/a
36	chr1:158979810-158979860	GM19239	blood:	n/a
37	chr1:158979810-158979860	U87	brain:	n/a
38	chr1:158979841-158979891	PFSK-1	brain:	n/a
39	chr1:158979810-158979860	HEEpiC	esophagus:	n/a
40	chr1:158979841-158979891	ProgFib	skin:	n/a
41	chr1:158979841-158979891	NH-A	brain:	n/a
42	chr1:158979810-158979860	HCPEpiC	choroid plexus:	n/a
43	chr1:158979810-158979860	AG09319	gingival:	n/a
44	chr1:158979841-158979891	NB4	blood:	n/a
45	chr1:158979810-158979860	AoSMC	blood vessel:	n/a
46	chr1:158979841-158979891	ECC-1	luminal epithelium:	n/a
47	chr1:158979841-158979891	PrEC	prostate:	n/a
48	chr1:158979841-158979891	HL-60	blood:	n/a
49	chr1:158979841-158979891	Jurkat	blood:	n/a
50	chr1:158979810-158979860	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158979699..158980284-chr16:31191231..31192125,2	Hela-S3	cervix:
2	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:

Variant related genes	Relation type
IFI16	TF binding region
IFI16	CpG island
ENSG00000163568	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158970800-158980800	Weak transcription	Pancreas	Pancrea
2	chr1:158976000-158983000	Weak transcription	Spleen	Spleen
3	chr1:158976000-159000800	Weak transcription	Gastric	stomach
4	chr1:158977200-158990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:158977800-158982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:158978200-158980400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:158978200-158981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:158978600-158980200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr1:158978600-158984200	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:158978800-158980000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr1:158978800-158983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:158978800-158985800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:158979000-158980800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:158979000-158981200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:158979200-158980600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:158979200-158981000	Active TSS	Aorta	Aorta
17	chr1:158979200-158981200	Active TSS	Colonic Mucosa	Colon
18	chr1:158979200-158981200	Active TSS	Psoas Muscle	Psoas
19	chr1:158979200-158982600	Active TSS	Fetal Stomach	stomach
20	chr1:158979200-158982800	Active TSS	NHLF	lung
21	chr1:158979200-158983200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:158979200-158983400	Active TSS	Right Atrium	heart
23	chr1:158979200-158984000	Active TSS	Stomach Smooth Muscle	stomach
24	chr1:158979400-158980000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:158979400-158980200	Active TSS	A549	lung
26	chr1:158979400-158980600	Active TSS	Brain Substantia Nigra	brain
27	chr1:158979400-158980800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:158979400-158980800	Active TSS	Brain Cingulate Gyrus	brain
29	chr1:158979400-158981000	Active TSS	Brain Angular Gyrus	brain
30	chr1:158979400-158981000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr1:158979400-158981000	Active TSS	Dnd41	blood
32	chr1:158979400-158981200	Active TSS	Fetal Intestine Small	intestine
33	chr1:158979400-158981200	Active TSS	Left Ventricle	heart
34	chr1:158979400-158981400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:158979400-158981600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:158979400-158981600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:158979400-158982000	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:158979400-158982200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:158979400-158982200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:158979400-158982200	Active TSS	NHDF-Ad	bronchial
41	chr1:158979400-158982400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:158979400-158982400	Active TSS	Fetal Kidney	kidney
43	chr1:158979400-158982400	Active TSS	Fetal Lung	lung
44	chr1:158979400-158982400	Active TSS	HSMM	muscle
45	chr1:158979400-158982400	Active TSS	HSMMtube	muscle
46	chr1:158979400-158982800	Active TSS	Fetal Intestine Large	intestine
47	chr1:158979400-158983000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:158979400-158983000	Active TSS	Primary T cells fromperipheralblood	blood
49	chr1:158979400-158983000	Active TSS	Ovary	ovary
50	chr1:158979400-158983000	Active TSS	Thymus	Thymus

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