Variant report

Variant	rs9859536
Chromosome Location	chr3:42922622-42922623
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	GABPA	chr3:42922332-42922944	MCF-7	breast:	n/a	n/a
2	CTCF	chr3:42922580-42922730	AoAF	blood vessel:	n/a	chr3:42922641-42922659
3	CTCF	chr3:42922600-42922750	HPAF	blood vessel:	n/a	chr3:42922641-42922659
4	JUND	chr3:42922494-42922764	H1-hESC	embryonic stem cell:	n/a	chr3:42922695-42922703
5	CTCF	chr3:42922600-42922750	HCT-116	colon:	n/a	chr3:42922641-42922659
6	FOXP2	chr3:42922458-42922880	PFSK-1	brain:	n/a	n/a
7	CTCF	chr3:42921846-42923014	SK-N-SH	brain:	n/a	chr3:42922641-42922659 chr3:42922407-42922420
8	RCOR1	chr3:42922337-42922845	GM12878	blood:	n/a	n/a
9	CTCF	chr3:42922620-42922770	A549	lung:	n/a	chr3:42922641-42922659
10	RAD21	chr3:42922441-42922822	GM12878	blood:	n/a	chr3:42922639-42922658
11	CTCF	chr3:42922536-42922782	LNCaP	prostate:	n/a	chr3:42922641-42922659
12	TBP	chr3:42922485-42922919	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:42922576-42922895	H1-hESC	embryonic stem cell:	n/a	n/a
14	SMC3	chr3:42922452-42922845	HepG2	liver:	n/a	chr3:42922643-42922657
15	CTCF	chr3:42922504-42922823	Gliobla	brain:	n/a	chr3:42922641-42922659
16	CHD2	chr3:42922523-42922667	HepG2	liver:	n/a	n/a
17	ELF1	chr3:42922239-42922909	MCF-7	breast:	n/a	chr3:42922573-42922586
18	PAX5	chr3:42922481-42922769	GM12878	blood:	n/a	n/a
19	ETS1	chr3:42922396-42922815	K562	blood:	n/a	chr3:42922574-42922583 chr3:42922566-42922583 chr3:42922574-42922583 chr3:42922572-42922583 chr3:42922574-42922583 chr3:42922576-42922585 chr3:42922574-42922583 chr3:42922573-42922586 chr3:42922572-42922582 chr3:42922571-42922586 chr3:42922574-42922583 chr3:42922566-42922583
20	CTCF	chr3:42922560-42922710	SAEC	small airway:	n/a	chr3:42922641-42922659
21	CTCF	chr3:42922580-42922730	GM12878	blood:	n/a	chr3:42922641-42922659
22	MAZ	chr3:42922453-42922822	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr3:42922493-42922851	GM12878	blood:	n/a	n/a
24	RAD21	chr3:42922334-42923057	ECC-1	luminal epithelium:	n/a	chr3:42922639-42922658
25	MAX	chr3:42922500-42922832	K562	blood:	n/a	n/a
26	TBL1XR1	chr3:42922473-42922724	GM12878	blood:	n/a	n/a
27	EP300	chr3:42922511-42922718	GM12878	blood:	n/a	chr3:42922575-42922582
28	CTCF	chr3:42922580-42922730	HAc	cerebellar:	n/a	chr3:42922641-42922659
29	ZBTB7A	chr3:42922331-42922900	K562	blood:	n/a	chr3:42922434-42922441 chr3:42922562-42922569
30	CTCF	chr3:42922375-42922871	HepG2	liver:	n/a	chr3:42922641-42922659 chr3:42922407-42922420
31	SRF	chr3:42922520-42922858	GM12878	blood:	n/a	n/a
32	RCOR1	chr3:42922611-42922703	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr3:42922391-42922926	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr3:42922504-42922841	MCF-7	breast:	n/a	chr3:42922641-42922659
35	SP4	chr3:42922414-42922795	H1-hESC	embryonic stem cell:	n/a	chr3:42922558-42922574
36	CTCF	chr3:42922509-42922805	H1-hESC	embryonic stem cell:	n/a	chr3:42922641-42922659
37	POLR2A	chr3:42922603-42922764	HUVEC	blood vessel:	n/a	n/a
38	RAD21	chr3:42922270-42922889	SK-N-SH_RA	brain:	n/a	chr3:42922639-42922658
39	CTCF	chr3:42922580-42922730	HPAF	blood vessel:	n/a	chr3:42922641-42922659
40	CTCF	chr3:42922515-42922803	K562	blood:	n/a	chr3:42922641-42922659
41	FOXP2	chr3:42922464-42922731	SK-N-MC	brain:	n/a	n/a
42	CTCF	chr3:42922407-42922874	GM12878	blood:	n/a	chr3:42922641-42922659 chr3:42922407-42922420
43	YY1	chr3:42922423-42922860	H1-hESC	embryonic stem cell:	n/a	chr3:42922459-42922470
44	POLR2A	chr3:42922469-42922681	MCF10A-Er-Src	breast:	n/a	n/a
45	TAF1	chr3:42922471-42922638	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr3:42922296-42922652	GM12878	blood:	n/a	n/a
47	CHD2	chr3:42922431-42922920	GM12878	blood:	n/a	n/a
48	RAD21	chr3:42922430-42922851	IMR90	lung:	n/a	chr3:42922639-42922658
49	RAD21	chr3:42922481-42922809	A549	lung:	n/a	chr3:42922639-42922658
50	MAFK	chr3:42922487-42922818	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:42821670..42822964-chr3:42922020..42923129,17	K562	blood:
2	chr3:42922580..42925142-chr3:42943866..42947450,3	MCF-7	breast:
3	chr3:42871820..42873679-chr3:42920996..42922942,2	MCF-7	breast:
4	chr3:42921878..42924561-chr3:43679352..43680976,2	MCF-7	breast:
5	chr3:42843552..42845487-chr3:42920948..42923647,2	K562	blood:
6	chr3:42785917..42786497-chr3:42922204..42923133,2	K562	blood:
7	chr3:42871994..42873616-chr3:42921171..42922839,2	MCF-7	breast:
8	chr3:42871457..42873559-chr3:42921313..42923126,29	K562	blood:
9	chr3:42911291..42913761-chr3:42921199..42924078,2	K562	blood:
10	chr3:42820154..42820984-chr3:42922418..42923141,2	K562	blood:
11	chr3:42872135..42872993-chr3:42922252..42923146,3	MCF-7	breast:
12	chr3:42872603..42873488-chr3:42922115..42923031,5	MCF-7	breast:

Variant related genes	Relation type
CYP8B1	TF binding region
ENSG00000182983	Chromatin interaction
ENSG00000160746	Chromatin interaction

rs_ID	r²[population]
rs13321021	1.00[EUR][1000 genomes]
rs13325328	1.00[EUR][1000 genomes]
rs1392318	1.00[EUR][1000 genomes]
rs2288373	1.00[AMR][1000 genomes]
rs59565527	1.00[EUR][1000 genomes]
rs60103249	1.00[EUR][1000 genomes]
rs6773703	1.00[AMR][1000 genomes]
rs6778536	1.00[AMR][1000 genomes]
rs6778645	1.00[AMR][1000 genomes]
rs6778671	1.00[AMR][1000 genomes]
rs6780217	1.00[AMR][1000 genomes]
rs6794345	1.00[AMR][1000 genomes]
rs6805091	1.00[AMR][1000 genomes]
rs72867392	1.00[EUR][1000 genomes]
rs72869014	1.00[EUR][1000 genomes]
rs7621158	1.00[AMR][1000 genomes]
rs9816821	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs9816972	1.00[EUR][1000 genomes]
rs9830658	1.00[EUR][1000 genomes]
rs9833785	1.00[EUR][1000 genomes]
rs9834201	1.00[EUR][1000 genomes]
rs9834527	1.00[EUR][1000 genomes]
rs9836207	1.00[EUR][1000 genomes]
rs9841211	1.00[EUR][1000 genomes]
rs9854489	1.00[EUR][1000 genomes]
rs9859496	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9879123	1.00[EUR][1000 genomes]
rs9884015	1.00[EUR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42921800-42922800	Active TSS	Rectal Smooth Muscle	rectum
2	chr3:42921800-42923000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr3:42922000-42922800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:42922000-42922800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr3:42922000-42922800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:42922000-42922800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr3:42922000-42922800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:42922000-42922800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:42922000-42922800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr3:42922000-42922800	Active TSS	Aorta	Aorta
11	chr3:42922000-42922800	Active TSS	Brain Cingulate Gyrus	brain
12	chr3:42922000-42922800	Active TSS	Brain Substantia Nigra	brain
13	chr3:42922000-42922800	Active TSS	GM12878-XiMat	blood
14	chr3:42922000-42923000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr3:42922000-42923000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:42922000-42923000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:42922000-42923000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:42922000-42923000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr3:42922000-42923000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr3:42922000-42923000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr3:42922000-42923000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr3:42922000-42923000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:42922000-42923000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr3:42922000-42923000	Enhancers	Fetal Heart	heart
25	chr3:42922000-42923000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr3:42922000-42923000	Flanking Active TSS	Placenta	Placenta
27	chr3:42922000-42923000	Flanking Active TSS	Gastric	stomach
28	chr3:42922000-42923000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:42922000-42923000	Flanking Active TSS	Stomach Mucosa	stomach
30	chr3:42922000-42923000	Bivalent/Poised TSS	A549	lung
31	chr3:42922000-42923200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr3:42922000-42923200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:42922000-42923200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr3:42922000-42923200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:42922000-42923200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr3:42922000-42923200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:42922000-42923200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:42922000-42923200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr3:42922000-42923400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr3:42922000-42923400	Active TSS	Fetal Brain Female	brain
41	chr3:42922200-42922800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr3:42922200-42922800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr3:42922200-42922800	Active TSS	Primary T cells from cord blood	blood
44	chr3:42922200-42922800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr3:42922200-42922800	Active TSS	Brain Hippocampus Middle	brain
46	chr3:42922200-42922800	Active TSS	Colon Smooth Muscle	Colon
47	chr3:42922200-42922800	Active TSS	Duodenum Mucosa	Duodenum
48	chr3:42922200-42922800	Active TSS	Fetal Brain Male	brain
49	chr3:42922200-42922800	Active TSS	Fetal Lung	lung
50	chr3:42922200-42922800	Active TSS	Psoas Muscle	Psoas

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