Variant report

Variant	rs181081159
Chromosome Location	chr9:26892120-26892121
allele	A/C
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	MYC	chr9:26891502-26893054	MCF10A-Er-Src	breast:	n/a	chr9:26892866-26892876
2	POLR2A	chr9:26892109-26893150	HUVEC	blood vessel:	n/a	n/a
3	SIN3AK20	chr9:26892069-26893213	MCF-7	breast:	n/a	n/a
4	CHD1	chr9:26891432-26893429	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr9:26891954-26893269	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:26891907-26893486	GM12892	blood:	n/a	n/a
7	TBP	chr9:26890977-26893272	Hela-S3	cervix:	n/a	n/a
8	MAFK	chr9:26892106-26893224	K562	blood:	n/a	n/a
9	CREB1	chr9:26891666-26893298	GM12878	blood:	n/a	n/a
10	MXI1	chr9:26891949-26893264	IMR90	lung:	n/a	n/a
11	POLR2A	chr9:26891794-26893176	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:26891697-26893623	Raji	blood:	n/a	n/a
13	UBTF	chr9:26891646-26893102	K562	blood:	n/a	n/a
14	POLR2A	chr9:26892104-26893100	Hela-S3	cervix:	n/a	n/a
15	ZNF384	chr9:26892004-26893072	GM12878	blood:	n/a	n/a
16	JUND	chr9:26891876-26893217	K562	blood:	n/a	n/a
17	E2F4	chr9:26892059-26893102	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr9:26891986-26893579	K562	blood:	n/a	n/a
19	POLR2A	chr9:26891461-26893661	GM19099	blood:	n/a	n/a
20	POLR2A	chr9:26892104-26893056	GM12891	blood:	n/a	n/a
21	ELF1	chr9:26892073-26893061	GM12878	blood:	n/a	chr9:26892819-26892832 chr9:26892376-26892389
22	SP1	chr9:26892037-26893148	A549	lung:	n/a	n/a
23	POLR2A	chr9:26891959-26893696	HepG2	liver:	n/a	n/a
24	POLR2A	chr9:26892089-26893131	HCT-116	colon:	n/a	n/a
25	RCOR1	chr9:26891887-26893003	K562	blood:	n/a	n/a
26	MAX	chr9:26891979-26893383	A549	lung:	n/a	chr9:26892866-26892876
27	POLR2A	chr9:26892120-26893120	K562	blood:	n/a	n/a
28	POLR2A	chr9:26892078-26893241	HUVEC	blood vessel:	n/a	n/a
29	FOXM1	chr9:26891946-26893172	GM12878	blood:	n/a	n/a
30	POLR2A	chr9:26891588-26893359	HepG2	liver:	n/a	n/a
31	CREB1	chr9:26892076-26893201	HepG2	liver:	n/a	n/a
32	SRF	chr9:26892069-26893244	HCT-116	colon:	n/a	n/a
33	SIN3A	chr9:26892036-26893235	GM12878	blood:	n/a	n/a
34	MAX	chr9:26892114-26893280	HCT-116	colon:	n/a	chr9:26892866-26892876
35	ELK4	chr9:26891945-26893290	Hela-S3	cervix:	n/a	chr9:26892818-26892829 chr9:26892820-26892829
36	TCF12	chr9:26892067-26893189	A549	lung:	n/a	n/a
37	PML	chr9:26891985-26893337	GM12878	blood:	n/a	n/a
38	MXI1	chr9:26892083-26892977	H1-hESC	embryonic stem cell:	n/a	n/a
39	IRF1	chr9:26892068-26893123	K562	blood:	n/a	n/a
40	MXI1	chr9:26892114-26893129	HepG2	liver:	n/a	n/a
41	RCOR1	chr9:26892033-26893218	Hela-S3	cervix:	n/a	n/a
42	MAX	chr9:26892084-26893176	ECC-1	luminal epithelium:	n/a	chr9:26892866-26892876
43	CHD1	chr9:26892031-26893555	GM12878	blood:	n/a	n/a
44	ETS1	chr9:26892112-26893017	GM12878	blood:	n/a	chr9:26892820-26892829 chr9:26892820-26892829 chr9:26892820-26892829 chr9:26892820-26892829 chr9:26892818-26892828 chr9:26892817-26892833 chr9:26892820-26892829
45	POLR2A	chr9:26892018-26893099	K562	blood:	n/a	n/a
46	POLR2A	chr9:26892109-26893140	GM12878	blood:	n/a	n/a
47	REST	chr9:26892005-26893255	H1-neurons	neurons:	n/a	chr9:26892744-26892764
48	MAX	chr9:26892005-26893156	HCT-116	colon:	n/a	chr9:26892866-26892876
49	MYBL2	chr9:26892053-26893211	HepG2	liver:	n/a	n/a
50	POLR2A	chr9:26891958-26893185	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:26890555..26892142-chr9:26919709..26921210,2	MCF-7	breast:
2	chr9:26891080..26895841-chr9:26945501..26948974,8	K562	blood:
3	chr9:26891080..26894676-chr9:26945695..26949113,9	K562	blood:
4	chr9:26886338..26888156-chr9:26890310..26892766,2	MCF-7	breast:
5	chr9:26891289..26894164-chr9:26921199..26924471,3	MCF-7	breast:
6	chr9:26890425..26894629-chr9:26953159..26958312,6	K562	blood:
7	chr9:26891902..26893962-chr9:26955453..26958235,3	MCF-7	breast:
8	chr9:26891939..26894308-chr9:26895080..26897868,2	K562	blood:
9	chr9:26890972..26893985-chr9:26945405..26948624,3	MCF-7	breast:
10	chr9:26886474..26888568-chr9:26890678..26892880,3	MCF-7	breast:
11	chr9:26890485..26893190-chr9:26945159..26948755,7	MCF-7	breast:
12	chr9:26889862..26894629-chr9:26953159..26958871,9	K562	blood:
13	chr9:26886311..26888299-chr9:26891061..26892871,2	K562	blood:

Variant related genes	Relation type
CAAP1	TF binding region
RN7SL100P	TF binding region
ENSG00000137055	Chromatin interaction
ENSG00000096872	Chromatin interaction
ENSG00000234676	Chromatin interaction
ENSG00000240306	Chromatin interaction
ENSG00000120159	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026827	chr9:26693515-26904699	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3440051	chr9:26892073-26892416	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26883200-26892200	Weak transcription	Spleen	Spleen
2	chr9:26883400-26892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:26888200-26893600	Active TSS	K562	blood
4	chr9:26890000-26893000	Active TSS	Hela-S3	cervix
5	chr9:26890200-26893400	Active TSS	Psoas Muscle	Psoas
6	chr9:26890200-26893600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:26890400-26894400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:26890600-26893000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:26890600-26893200	Active TSS	Fetal Intestine Large	intestine
10	chr9:26890600-26893200	Active TSS	A549	lung
11	chr9:26890600-26893600	Active TSS	Fetal Intestine Small	intestine
12	chr9:26890600-26893600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr9:26890800-26892400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:26890800-26893000	Active TSS	Fetal Kidney	kidney
15	chr9:26890800-26893000	Active TSS	GM12878-XiMat	blood
16	chr9:26890800-26893200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:26890800-26893200	Active TSS	Colonic Mucosa	Colon
18	chr9:26890800-26893200	Active TSS	Duodenum Mucosa	Duodenum
19	chr9:26890800-26893600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:26890800-26893600	Active TSS	HSMM	muscle
21	chr9:26891000-26892200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:26891000-26892400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr9:26891000-26893000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr9:26891000-26893000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:26891000-26893200	Active TSS	Aorta	Aorta
26	chr9:26891000-26893200	Active TSS	Fetal Stomach	stomach
27	chr9:26891000-26893200	Active TSS	Right Ventricle	heart
28	chr9:26891000-26893200	Active TSS	Thymus	Thymus
29	chr9:26891000-26893200	Active TSS	HSMMtube	muscle
30	chr9:26891000-26893400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr9:26891000-26893400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:26891000-26893400	Active TSS	Right Atrium	heart
33	chr9:26891000-26893600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:26891200-26892200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr9:26891200-26892600	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr9:26891200-26893000	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr9:26891200-26893000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:26891200-26893000	Active TSS	Dnd41	blood
39	chr9:26891200-26893000	Active TSS	HMEC	breast
40	chr9:26891200-26893000	Active TSS	NHDF-Ad	bronchial
41	chr9:26891200-26893000	Active TSS	NHEK	skin
42	chr9:26891200-26893200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr9:26891200-26893200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr9:26891200-26893200	Active TSS	Fetal Thymus	thymus
45	chr9:26891200-26893200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr9:26891200-26893400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr9:26891200-26893400	Active TSS	Fetal Heart	heart
48	chr9:26891200-26893600	Active TSS	Brain Anterior Caudate	brain
49	chr9:26891200-26893600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:26891400-26892200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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