Variant report

Variant	rs147932948
Chromosome Location	chr1:158979585-158979586
allele	A/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	TAF1	chr1:158979427-158979918	GM12892	blood:	n/a	n/a
2	YY1	chr1:158979467-158979837	GM12878	blood:	n/a	n/a
3	MYC	chr1:158979479-158979975	K562	blood:	n/a	n/a
4	BCLAF1	chr1:158979353-158980167	GM12878	blood:	n/a	chr1:158979355-158979364
5	STAT3	chr1:158978735-158980510	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
6	FOS	chr1:158979336-158980577	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
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	MYC	chr1:158979497-158979749	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:158978406-158980376	GM12892	blood:	n/a	n/a
11	TBP	chr1:158978436-158980668	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:158978455-158980617	GM18951	blood:	n/a	n/a
13	FOS	chr1:158979127-158980621	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
14	POLR2A	chr1:158978428-158980356	GM12892	blood:	n/a	n/a
15	CUX1	chr1:158979477-158980048	K562	blood:	n/a	n/a
16	YY1	chr1:158979447-158979838	GM12892	blood:	n/a	n/a
17	KAP1	chr1:158978548-158980551	HEK293	kidney:	n/a	chr1:158979354-158979363
18	REST	chr1:158979450-158980007	PFSK-1	brain:	n/a	n/a
19	CEBPB	chr1:158979315-158980401	IMR90	lung:	n/a	n/a
20	STAT2	chr1:158979402-158980141	K562	blood:	n/a	chr1:158979640-158979655
21	FOS	chr1:158979119-158980165	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365
22	STAT1	chr1:158979267-158979722	GM12878	blood:	n/a	chr1:158979608-158979619 chr1:158979355-158979364
23	YY1	chr1:158978531-158980036	GM12878	blood:	n/a	chr1:158979303-158979311
24	IKZF1	chr1:158979567-158980134	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:158979432-158980288	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr1:158978508-158980689	GM12892	blood:	n/a	n/a
27	STAT5A	chr1:158979466-158980057	GM12878	blood:	n/a	n/a
28	YY1	chr1:158979153-158979923	SK-N-SH_RA	brain:	n/a	chr1:158979303-158979311
29	EP300	chr1:158979423-158980722	Hela-S3	cervix:	n/a	chr1:158980664-158980674
30	POLR2A	chr1:158978461-158980586	GM18526	blood:	n/a	n/a
31	TAF1	chr1:158979464-158980042	SK-N-SH	brain:	n/a	n/a
32	EP300	chr1:158979512-158980152	K562	blood:	n/a	n/a
33	STAT2	chr1:158979406-158980014	K562	blood:	n/a	chr1:158979640-158979655
34	CUX1	chr1:158979375-158980175	GM12878	blood:	n/a	n/a
35	MXI1	chr1:158978956-158981134	IMR90	lung:	n/a	n/a
36	POLR2A	chr1:158979429-158979998	SK-N-MC	brain:	n/a	n/a
37	RUNX3	chr1:158979382-158979910	GM12878	blood:	n/a	n/a
38	TAF1	chr1:158979444-158979921	GM12891	blood:	n/a	n/a
39	RELA	chr1:158978511-158979901	GM19099	blood:	n/a	chr1:158979114-158979123 chr1:158979114-158979123
40	STAT1	chr1:158979418-158979963	K562	blood:	n/a	chr1:158979608-158979619
41	CEBPB	chr1:158979563-158979997	K562	blood:	n/a	n/a
42	RAD21	chr1:158979520-158979781	SK-N-SH_RA	brain:	n/a	n/a
43	MXI1	chr1:158979334-158980068	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr1:158978459-158981042	GM15510	blood:	n/a	n/a
45	STAT5A	chr1:158979556-158980115	K562	blood:	n/a	n/a
46	KAP1	chr1:158978346-158980205	U2OS	brain:	n/a	chr1:158979354-158979363
47	GTF2F1	chr1:158979204-158980177	Hela-S3	cervix:	n/a	n/a
48	GATA2	chr1:158979561-158980192	HUVEC	blood vessel:	n/a	chr1:158979774-158979788
49	STAT5A	chr1:158979444-158980082	GM12878	blood:	n/a	n/a
50	RCOR1	chr1:158978512-158980241	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158979538-158979588	Hepatocyte	liver:	n/a
2	chr1:158979538-158979588	K562	blood:	n/a
3	chr1:158979538-158979588	RPTEC	kidney:	n/a
4	chr1:158979538-158979588	ProgFib	skin:	n/a
5	chr1:158979538-158979588	AG04450	lung:	fetal
6	chr1:158979538-158979588	HRE	kidney:	n/a
7	chr1:158979538-158979588	Jurkat	blood:	n/a
8	chr1:158979538-158979588	HEK293	kidney:	embryo
9	chr1:158979538-158979588	SK-N-SH_RA	brain:	n/a
10	chr1:158979538-158979588	HMEC	breast:	n/a
11	chr1:158979538-158979588	NHBE	bronchial:	n/a
12	chr1:158979538-158979588	MCF10A-Er-Src	breast:	n/a
13	chr1:158979538-158979588	Caco-2	colon:	n/a
14	chr1:158979538-158979588	HepG2	liver:	n/a
15	chr1:158979538-158979588	SAEC	small airway:	n/a
16	chr1:158979538-158979588	AG04449	skin:	fetal
17	chr1:158979538-158979588	GM19239	blood:	n/a
18	chr1:158979538-158979588	HNPCEpiC	eye:	n/a
19	chr1:158979538-158979588	BJ	skin:	n/a
20	chr1:158979538-158979588	AG10803	skin:	n/a
21	chr1:158979538-158979588	HAEpiC	amniotic membrane:	n/a
22	chr1:158979538-158979588	NT2-D1	testis:	n/a
23	chr1:158979538-158979588	A549	lung:	n/a
24	chr1:158979538-158979588	HCT-116	colon:	n/a
25	chr1:158979538-158979588	GM12892	blood:	n/a
26	chr1:158979538-158979588	HUVEC	blood vessel:	n/a
27	chr1:158979538-158979588	AG09319	gingival:	n/a
28	chr1:158979538-158979588	HCPEpiC	choroid plexus:	n/a
29	chr1:158979538-158979588	GM12878	blood:	n/a
30	chr1:158979538-158979588	Hela-S3	cervix:	n/a
31	chr1:158979538-158979588	HCM	heart:	n/a
32	chr1:158979538-158979588	LNCaP	prostate:	n/a
33	chr1:158979538-158979588	GM12891	blood:	n/a
34	chr1:158979538-158979588	HRPEpiC	eye:	n/a
35	chr1:158979538-158979588	CMK	blood:	n/a
36	chr1:158979538-158979588	PANC-1	pancreas:	n/a
37	chr1:158979538-158979588	BE2_C	brain:	n/a
38	chr1:158979538-158979588	AoSMC	blood vessel:	n/a
39	chr1:158979538-158979588	U87	brain:	n/a
40	chr1:158979538-158979588	H1-hESC	embryonic stem cell:	embryo
41	chr1:158979538-158979588	NH-A	brain:	n/a
42	chr1:158979538-158979588	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:158979538-158979588	PrEC	prostate:	n/a
44	chr1:158979538-158979588	IMR90	lung:	fetal
45	chr1:158979538-158979588	AG09309	skin:	n/a
46	chr1:158979538-158979588	NHDF-neo	bronchial:	n/a
47	chr1:158979538-158979588	PFSK-1	brain:	n/a
48	chr1:158979538-158979588	NB4	blood:	n/a
49	chr1:158979538-158979588	HL-60	blood:	n/a
50	chr1:158979538-158979588	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:

Variant related genes	Relation type
IFI16	TF binding region
IFI16	CpG island
ENSG00000163568	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158970800-158980800	Weak transcription	Pancreas	Pancrea
2	chr1:158971800-158979800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:158972000-158979600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:158975000-158979800	Weak transcription	Lung	lung
5	chr1:158976000-158979600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:158976000-158983000	Weak transcription	Spleen	Spleen
7	chr1:158976000-159000800	Weak transcription	Gastric	stomach
8	chr1:158976400-158979800	Weak transcription	Stomach Mucosa	stomach
9	chr1:158977200-158979600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:158977200-158990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:158977600-158979600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:158977800-158979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:158977800-158982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:158978200-158979600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:158978200-158979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:158978200-158980400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:158978200-158981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:158978400-158979600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:158978400-158979600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:158978400-158979600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:158978400-158979600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:158978400-158979600	Enhancers	Hela-S3	cervix
23	chr1:158978400-158979600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:158978600-158979600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr1:158978600-158979600	Enhancers	Small Intestine	intestine
26	chr1:158978600-158980200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:158978600-158984200	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:158978800-158979600	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr1:158978800-158979600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:158978800-158979600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr1:158978800-158979600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:158978800-158979600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:158978800-158979600	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:158978800-158979600	Flanking Active TSS	Fetal Thymus	thymus
35	chr1:158978800-158979600	Weak transcription	Right Ventricle	heart
36	chr1:158978800-158979800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:158978800-158979800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr1:158978800-158979800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr1:158978800-158980000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr1:158978800-158983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:158978800-158985800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr1:158979000-158980800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:158979000-158981200	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr1:158979200-158979600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:158979200-158979600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:158979200-158979600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr1:158979200-158979600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:158979200-158979600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:158979200-158979600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:158979200-158979600	Flanking Active TSS	HUVEC	blood vessel

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