Variant report

Variant	rs368051455
Chromosome Location	chr9:98279474-98279475
allele	A/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	HMGN3	chr9:98278029-98279519	K562	blood:	n/a	n/a
2	RCOR1	chr9:98278116-98279554	K562	blood:	n/a	n/a
3	MAX	chr9:98278497-98279544	A549	lung:	n/a	n/a
4	MXI1	chr9:98277534-98279666	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr9:98279137-98279627	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr9:98279120-98279553	K562	blood:	n/a	n/a
7	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
8	JUND	chr9:98278707-98279476	K562	blood:	n/a	chr9:98279347-98279356
9	MAX	chr9:98278903-98279629	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr9:98278011-98279894	IMR90	lung:	n/a	n/a
11	USF1	chr9:98278764-98279501	HCT-116	colon:	n/a	chr9:98279149-98279160
12	CTCF	chr9:98279400-98279550	HUVEC	blood vessel:	n/a	n/a
13	UBTF	chr9:98278330-98279500	K562	blood:	n/a	n/a
14	REST	chr9:98277262-98280262	H1-neurons	neurons:	n/a	chr9:98277674-98277692 chr9:98277673-98277693 chr9:98278638-98278651 chr9:98277673-98277693
15	USF1	chr9:98278904-98279486	H1-hESC	embryonic stem cell:	n/a	chr9:98279149-98279160
16	ZBTB7A	chr9:98278950-98279485	K562	blood:	n/a	n/a
17	SIN3A	chr9:98277461-98280031	H1-hESC	embryonic stem cell:	n/a	n/a
18	CCNT2	chr9:98279077-98279496	K562	blood:	n/a	chr9:98279410-98279419
19	MAZ	chr9:98278083-98279519	K562	blood:	n/a	n/a
20	RAD21	chr9:98278688-98279757	IMR90	lung:	n/a	chr9:98279444-98279453
21	ELF1	chr9:98279080-98279630	K562	blood:	n/a	chr9:98279409-98279421
22	EGR1	chr9:98278926-98279545	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
23	EGR1	chr9:98279210-98279576	H1-hESC	embryonic stem cell:	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
24	FOXA1	chr9:98278940-98279475	HepG2	liver:	n/a	chr9:98279241-98279256 chr9:98279202-98279217
25	ZBTB7A	chr9:98279133-98279574	ECC-1	luminal epithelium:	n/a	n/a
26	UBTF	chr9:98278058-98279590	K562	blood:	n/a	n/a
27	TAF1	chr9:98278924-98280059	H1-neurons	neurons:	n/a	n/a
28	ELF1	chr9:98279064-98279497	K562	blood:	n/a	chr9:98279409-98279421
29	MAX	chr9:98278550-98279565	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTBP2	chr9:98278676-98280022	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr9:98278064-98279498	K562	blood:	n/a	chr9:98278094-98278101 chr9:98278391-98278406 chr9:98278681-98278690 chr9:98278094-98278101 chr9:98278094-98278101 chr9:98279407-98279419 chr9:98279410-98279419
32	CHD2	chr9:98279153-98279522	K562	blood:	n/a	chr9:98279404-98279414 chr9:98279466-98279476
33	BACH1	chr9:98278836-98279643	H1-hESC	embryonic stem cell:	n/a	n/a
34	EGR1	chr9:98278902-98279595	ECC-1	luminal epithelium:	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
35	RAD21	chr9:98278904-98280100	H1-hESC	embryonic stem cell:	n/a	chr9:98279444-98279453
36	FOXA2	chr9:98278859-98279542	A549	lung:	n/a	n/a
37	BHLHE40	chr9:98278640-98279573	K562	blood:	n/a	n/a
38	MAX	chr9:98277999-98279585	K562	blood:	n/a	n/a
39	USF1	chr9:98279025-98279495	HCT-116	colon:	n/a	chr9:98279149-98279160
40	YY1	chr9:98279279-98279612	H1-hESC	embryonic stem cell:	n/a	chr9:98279349-98279360 chr9:98279444-98279452 chr9:98279402-98279413 chr9:98279410-98279419 chr9:98279407-98279418
41	TEAD4	chr9:98278934-98279617	K562	blood:	n/a	n/a
42	YY1	chr9:98278959-98279548	K562	blood:	n/a	chr9:98279349-98279360 chr9:98279444-98279452 chr9:98279402-98279413 chr9:98279410-98279419 chr9:98279407-98279418
43	E2F6	chr9:98278858-98279953	H1-hESC	embryonic stem cell:	n/a	chr9:98279407-98279419 chr9:98279410-98279419
44	POLR2A	chr9:98277497-98280257	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr9:98277613-98280271	H1-neurons	neurons:	n/a	n/a
46	ZBTB7A	chr9:98279182-98279504	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:98276862..98280186-chr9:98636651..98639407,3	K562	blood:
2	chr9:98279388..98282598-chr9:98285107..98287156,3	MCF-7	breast:
3	chr9:98277796..98280674-chr9:98636940..98639822,3	K562	blood:
4	chr9:98078194..98081816-chr9:98277777..98279552,3	K562	blood:

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000158169	Chromatin interaction
ENSG00000182150	Chromatin interaction
ENSG00000175611	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:118 , 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	chr9:98277600-98279600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:98277600-98279600	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr9:98277600-98279800	Active TSS	Ovary	ovary
8	chr9:98277600-98280200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr9:98277800-98279600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr9:98277800-98279600	Active TSS	Gastric	stomach
11	chr9:98277800-98279800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:98277800-98279800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr9:98277800-98279800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr9:98277800-98279800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr9:98277800-98280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr9:98277800-98280200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr9:98277800-98280200	Active TSS	Brain Cingulate Gyrus	brain
18	chr9:98277800-98280200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:98278000-98279600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:98278000-98279600	Active TSS	Fetal Lung	lung
21	chr9:98278000-98279600	Bivalent/Poised TSS	HepG2	liver
22	chr9:98278000-98279600	Active TSS	NHDF-Ad	bronchial
23	chr9:98278000-98279800	Flanking Active TSS	Liver	Liver
24	chr9:98278000-98280000	Active TSS	Brain Anterior Caudate	brain
25	chr9:98278000-98280200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr9:98278000-98280200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr9:98278000-98280200	Active TSS	Brain Substantia Nigra	brain
28	chr9:98278000-98280200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr9:98278200-98279600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr9:98278200-98279600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:98278200-98279600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:98278200-98279600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:98278200-98279600	Active TSS	Aorta	Aorta
34	chr9:98278200-98279600	Active TSS	Fetal Intestine Small	intestine
35	chr9:98278200-98279600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
36	chr9:98278200-98279600	Active TSS	A549	lung
37	chr9:98278200-98279600	Active TSS	K562	blood
38	chr9:98278200-98279800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:98278200-98279800	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr9:98278200-98280200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:98278400-98279600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr9:98278400-98279800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr9:98278400-98279800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:98278400-98279800	Active TSS	Brain Hippocampus Middle	brain
45	chr9:98278400-98280000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:98278600-98279600	Active TSS	Hela-S3	cervix
47	chr9:98278800-98279600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:98278800-98279600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr9:98278800-98279600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:98278800-98279600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood

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