Variant report

Variant	rs142761971
Chromosome Location	chr9:98279188-98279189
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	USF1	chr9:98278968-98279455	SK-N-SH_RA	brain:	n/a	chr9:98279149-98279160
2	MAX	chr9:98278886-98279397	SK-N-SH	brain:	n/a	n/a
3	GTF2F1	chr9:98278946-98279224	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr9:98279160-98279310	HCPEpiC	choroid plexus:	n/a	n/a
5	EP300	chr9:98279064-98279454	K562	blood:	n/a	chr9:98279371-98279387 chr9:98279349-98279358
6	HMGN3	chr9:98278029-98279519	K562	blood:	n/a	n/a
7	MAX	chr9:98278979-98279301	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr9:98278909-98279465	K562	blood:	n/a	chr9:98279407-98279419 chr9:98279410-98279419
9	RCOR1	chr9:98278116-98279554	K562	blood:	n/a	n/a
10	YY1	chr9:98279161-98279345	HCT-116	colon:	n/a	n/a
11	HEY1	chr9:98279004-98279299	K562	blood:	n/a	n/a
12	TAF1	chr9:98278934-98279256	K562	blood:	n/a	n/a
13	MAX	chr9:98278497-98279544	A549	lung:	n/a	n/a
14	MXI1	chr9:98277534-98279666	SK-N-SH	brain:	n/a	n/a
15	MYC	chr9:98278994-98279214	MCF10A-Er-Src	breast:	n/a	n/a
16	USF1	chr9:98278976-98279300	A549	lung:	n/a	chr9:98279149-98279160
17	MXI1	chr9:98279137-98279627	HepG2	liver:	n/a	n/a
18	RAD21	chr9:98279163-98279346	K562	blood:	n/a	n/a
19	E2F6	chr9:98278991-98279327	K562	blood:	n/a	n/a
20	MAX	chr9:98279015-98279275	A549	lung:	n/a	n/a
21	ATF3	chr9:98278932-98279368	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr9:98278961-98279463	SK-N-SH	brain:	n/a	n/a
23	ATF3	chr9:98278984-98279338	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F4	chr9:98278887-98279396	MCF10A-Er-Src	breast:	n/a	n/a
25	ZBTB7A	chr9:98279120-98279553	K562	blood:	n/a	n/a
26	BHLHE40	chr9:98278986-98279277	GM12878	blood:	n/a	n/a
27	EGR1	chr9:98278830-98279576	K562	blood:	n/a	chr9:98279412-98279421 chr9:98279406-98279428 chr9:98279411-98279421 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279409-98279419 chr9:98279410-98279425 chr9:98279412-98279423 chr9:98279410-98279424 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279405-98279418 chr9:98279411-98279424 chr9:98279411-98279424
28	JUND	chr9:98278707-98279476	K562	blood:	n/a	chr9:98279347-98279356
29	USF1	chr9:98278929-98279388	A549	lung:	n/a	chr9:98279149-98279160
30	USF2	chr9:98278873-98279346	H1-hESC	embryonic stem cell:	n/a	chr9:98279149-98279160
31	USF1	chr9:98279052-98279240	GM12878	blood:	n/a	chr9:98279149-98279160
32	RCOR1	chr9:98279112-98279253	GM12878	blood:	n/a	n/a
33	MAX	chr9:98278903-98279629	H1-hESC	embryonic stem cell:	n/a	n/a
34	USF1	chr9:98278929-98279273	A549	lung:	n/a	chr9:98279149-98279160
35	MAZ	chr9:98278011-98279894	IMR90	lung:	n/a	n/a
36	ZBTB33	chr9:98279101-98279454	HCT-116	colon:	n/a	n/a
37	MAX	chr9:98278947-98279392	K562	blood:	n/a	n/a
38	USF1	chr9:98278976-98279377	A549	lung:	n/a	chr9:98279149-98279160
39	USF1	chr9:98278903-98279351	ECC-1	luminal epithelium:	n/a	chr9:98279149-98279160
40	TAL1	chr9:98279099-98279390	K562	blood:	n/a	n/a
41	USF1	chr9:98278764-98279501	HCT-116	colon:	n/a	chr9:98279149-98279160
42	MAX	chr9:98278551-98279435	K562	blood:	n/a	n/a
43	MAX	chr9:98278686-98279405	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr9:98279099-98279361	HCT-116	colon:	n/a	n/a
45	MAZ	chr9:98279175-98279406	Hela-S3	cervix:	n/a	n/a
46	UBTF	chr9:98278330-98279500	K562	blood:	n/a	n/a
47	E2F6	chr9:98278671-98279413	A549	lung:	n/a	chr9:98278681-98278690
48	ELF1	chr9:98278937-98279363	GM12878	blood:	n/a	n/a
49	BHLHE40	chr9:98279032-98279265	A549	lung:	n/a	n/a
50	POLR2A	chr9:98278908-98279405	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:98279166-98279216	HEK293	kidney:	embryo
2	chr9:98279166-98279216	HCM	heart:	n/a
3	chr9:98279166-98279216	PANC-1	pancreas:	n/a
4	chr9:98279166-98279216	ProgFib	skin:	n/a
5	chr9:98279166-98279216	HAEpiC	amniotic membrane:	n/a
6	chr9:98279166-98279216	NT2-D1	testis:	n/a
7	chr9:98279166-98279216	MCF-7	breast:	n/a
8	chr9:98279166-98279216	ECC-1	luminal epithelium:	n/a
9	chr9:98279166-98279216	RPTEC	kidney:	n/a
10	chr9:98279166-98279216	HIPEpiC	eye:	n/a
11	chr9:98279166-98279216	NHDF-neo	bronchial:	n/a
12	chr9:98279166-98279216	SK-N-SH	brain:	n/a
13	chr9:98279166-98279216	GM19239	blood:	n/a
14	chr9:98279166-98279216	ovcar-3	ovarian:	n/a
15	chr9:98279166-98279216	Jurkat	blood:	n/a
16	chr9:98279166-98279216	IMR90	lung:	fetal
17	chr9:98279166-98279216	AG04449	skin:	fetal
18	chr9:98279166-98279216	HCPEpiC	choroid plexus:	n/a
19	chr9:98279166-98279216	AG09309	skin:	n/a
20	chr9:98279166-98279216	NHBE	bronchial:	n/a
21	chr9:98279166-98279216	GM12891	blood:	n/a
22	chr9:98279166-98279216	HL-60	blood:	n/a
23	chr9:98279166-98279216	Hepatocyte	liver:	n/a
24	chr9:98279166-98279216	AG10803	skin:	n/a
25	chr9:98279166-98279216	HNPCEpiC	eye:	n/a
26	chr9:98279166-98279216	SKMC	muscle:	n/a
27	chr9:98279166-98279216	GM12878	blood:	n/a
28	chr9:98279166-98279216	HepG2	liver:	n/a
29	chr9:98279166-98279216	HRPEpiC	eye:	n/a
30	chr9:98279166-98279216	NH-A	brain:	n/a
31	chr9:98279166-98279216	SK-N-SH_RA	brain:	n/a
32	chr9:98279166-98279216	BE2_C	brain:	n/a
33	chr9:98279166-98279216	PrEC	prostate:	n/a
34	chr9:98279166-98279216	HCT-116	colon:	n/a
35	chr9:98279166-98279216	K562	blood:	n/a
36	chr9:98279166-98279216	T-47D	breast:	n/a
37	chr9:98279166-98279216	MCF10A-Er-Src	breast:	n/a
38	chr9:98279166-98279216	NB4	blood:	n/a
39	chr9:98279166-98279216	GM06990	blood:	n/a
40	chr9:98279166-98279216	PFSK-1	brain:	n/a
41	chr9:98279166-98279216	HCF	heart:	n/a
42	chr9:98279166-98279216	AG09319	gingival:	n/a
43	chr9:98279166-98279216	Hela-S3	cervix:	n/a
44	chr9:98279166-98279216	BJ	skin:	n/a
45	chr9:98279166-98279216	HEEpiC	esophagus:	n/a
46	chr9:98279166-98279216	HRCEpiC	kidney:	n/a
47	chr9:98279166-98279216	H1-hESC	embryonic stem cell:	embryo
48	chr9:98279166-98279216	HRE	kidney:	n/a
49	chr9:98279166-98279216	HUVEC	blood vessel:	n/a
50	chr9:98279166-98279216	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:98276862..98280186-chr9:98636651..98639407,3	K562	blood:
2	chr9:98277796..98280674-chr9:98636940..98639822,3	K562	blood:
3	chr9:98078194..98081816-chr9:98277777..98279552,3	K562	blood:

Variant related genes	Relation type
PTCH1	TF binding region
PTCH1	CpG island
ENSG00000158169	Chromatin interaction
ENSG00000175611	Chromatin interaction
ENSG00000182150	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv917118	chr9:98279162-98284265	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98274600-98279600	Active TSS	Duodenum Mucosa	Duodenum
2	chr9:98277200-98280000	Active TSS	Fetal Kidney	kidney
3	chr9:98277400-98280000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr9:98277400-98280200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr9:98277600-98279200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:98277600-98279400	Active TSS	Brain Angular Gyrus	brain
7	chr9:98277600-98279600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:98277600-98279600	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr9:98277600-98279800	Active TSS	Ovary	ovary
10	chr9:98277600-98280200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr9:98277800-98279200	Flanking Bivalent TSS/Enh	Thymus	Thymus
12	chr9:98277800-98279400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:98277800-98279400	Active TSS	HSMM	muscle
14	chr9:98277800-98279400	Active TSS	NHLF	lung
15	chr9:98277800-98279600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr9:98277800-98279600	Active TSS	Gastric	stomach
17	chr9:98277800-98279800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:98277800-98279800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr9:98277800-98279800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr9:98277800-98279800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr9:98277800-98280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr9:98277800-98280200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:98277800-98280200	Active TSS	Brain Cingulate Gyrus	brain
24	chr9:98277800-98280200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:98278000-98279200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:98278000-98279400	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr9:98278000-98279400	Active TSS	Right Atrium	heart
28	chr9:98278000-98279400	Active TSS	HSMMtube	muscle
29	chr9:98278000-98279600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:98278000-98279600	Active TSS	Fetal Lung	lung
31	chr9:98278000-98279600	Bivalent/Poised TSS	HepG2	liver
32	chr9:98278000-98279600	Active TSS	NHDF-Ad	bronchial
33	chr9:98278000-98279800	Flanking Active TSS	Liver	Liver
34	chr9:98278000-98280000	Active TSS	Brain Anterior Caudate	brain
35	chr9:98278000-98280200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr9:98278000-98280200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr9:98278000-98280200	Active TSS	Brain Substantia Nigra	brain
38	chr9:98278000-98280200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr9:98278200-98279200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr9:98278200-98279200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr9:98278200-98279400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:98278200-98279400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:98278200-98279400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:98278200-98279400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr9:98278200-98279400	Active TSS	Colon Smooth Muscle	Colon
46	chr9:98278200-98279400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr9:98278200-98279400	Active TSS	Fetal Brain Female	brain
48	chr9:98278200-98279400	Active TSS	Fetal Heart	heart
49	chr9:98278200-98279400	Active TSS	Fetal Intestine Large	intestine
50	chr9:98278200-98279400	Active TSS	Left Ventricle	heart

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