Variant report

Variant	rs9859496
Chromosome Location	chr3:42922473-42922474
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	GABPA	chr3:42922332-42922944	MCF-7	breast:	n/a	n/a
2	FOXP2	chr3:42922458-42922880	PFSK-1	brain:	n/a	n/a
3	CTCF	chr3:42921846-42923014	SK-N-SH	brain:	n/a	chr3:42922641-42922659 chr3:42922407-42922420
4	RCOR1	chr3:42922337-42922845	GM12878	blood:	n/a	n/a
5	RAD21	chr3:42922441-42922822	GM12878	blood:	n/a	chr3:42922639-42922658
6	SMC3	chr3:42922452-42922845	HepG2	liver:	n/a	chr3:42922643-42922657
7	ELF1	chr3:42922239-42922909	MCF-7	breast:	n/a	chr3:42922573-42922586
8	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
9	POLR2A	chr3:42922423-42922586	A549	lung:	n/a	n/a
10	MAZ	chr3:42922453-42922822	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr3:42922334-42923057	ECC-1	luminal epithelium:	n/a	chr3:42922639-42922658
12	TBL1XR1	chr3:42922473-42922724	GM12878	blood:	n/a	n/a
13	ZBTB7A	chr3:42922331-42922900	K562	blood:	n/a	chr3:42922434-42922441 chr3:42922562-42922569
14	CTCF	chr3:42922375-42922871	HepG2	liver:	n/a	chr3:42922641-42922659 chr3:42922407-42922420
15	POLR2A	chr3:42922391-42922926	H1-hESC	embryonic stem cell:	n/a	n/a
16	SP4	chr3:42922414-42922795	H1-hESC	embryonic stem cell:	n/a	chr3:42922558-42922574
17	RAD21	chr3:42922270-42922889	SK-N-SH_RA	brain:	n/a	chr3:42922639-42922658
18	FOXP2	chr3:42922464-42922731	SK-N-MC	brain:	n/a	n/a
19	CTCF	chr3:42922407-42922874	GM12878	blood:	n/a	chr3:42922641-42922659 chr3:42922407-42922420
20	YY1	chr3:42922423-42922860	H1-hESC	embryonic stem cell:	n/a	chr3:42922459-42922470
21	POLR2A	chr3:42922469-42922681	MCF10A-Er-Src	breast:	n/a	n/a
22	TAF1	chr3:42922471-42922638	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr3:42922296-42922652	GM12878	blood:	n/a	n/a
24	CHD2	chr3:42922431-42922920	GM12878	blood:	n/a	n/a
25	RAD21	chr3:42922430-42922851	IMR90	lung:	n/a	chr3:42922639-42922658
26	CEBPD	chr3:42922448-42922742	HepG2	liver:	n/a	n/a
27	RAD21	chr3:42922344-42922998	MCF-7	breast:	n/a	chr3:42922639-42922658
28	SIN3AK20	chr3:42922420-42922724	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr3:42922332-42922976	A549	lung:	n/a	chr3:42922639-42922658
30	POLR2A	chr3:42922384-42922900	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:42922243-42922852	Gliobla	brain:	n/a	n/a
32	ELK1	chr3:42922393-42922781	K562	blood:	n/a	chr3:42922574-42922583 chr3:42922574-42922583
33	STAT1	chr3:42922453-42922787	GM12878	blood:	n/a	n/a
34	CTCF	chr3:42922461-42922920	MCF-7	breast:	n/a	chr3:42922641-42922659
35	MAX	chr3:42922379-42922901	ECC-1	luminal epithelium:	n/a	chr3:42922836-42922845
36	POLR2A	chr3:42921925-42922891	MCF-7	breast:	n/a	n/a
37	POLR2A	chr3:42922329-42922892	ECC-1	luminal epithelium:	n/a	n/a
38	ZNF143	chr3:42922410-42922866	H1-hESC	embryonic stem cell:	n/a	chr3:42922575-42922593
39	TCF12	chr3:42922330-42922912	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr3:42922368-42922969	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr3:42922308-42923270	A549	lung:	n/a	chr3:42922641-42922659 chr3:42922407-42922420
42	BHLHE40	chr3:42922465-42922821	GM12878	blood:	n/a	n/a
43	RAD21	chr3:42922404-42922823	K562	blood:	n/a	chr3:42922639-42922658
44	HCFC1	chr3:42922463-42922919	K562	blood:	n/a	n/a
45	MAZ	chr3:42922359-42922969	K562	blood:	n/a	chr3:42922836-42922845
46	HMGN3	chr3:42922103-42922888	K562	blood:	n/a	n/a
47	YY1	chr3:42922457-42922889	K562	blood:	n/a	chr3:42922459-42922470
48	JUND	chr3:42922445-42922787	H1-hESC	embryonic stem cell:	n/a	chr3:42922695-42922703
49	POLR2A	chr3:42922440-42922681	GM12878	blood:	n/a	n/a
50	RAD21	chr3:42922310-42922935	H1-hESC	embryonic stem cell:	n/a	chr3:42922639-42922658

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

Variant related genes	Relation type
CYP8B1	TF binding region
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]
rs59565527	1.00[EUR][1000 genomes]
rs60103249	1.00[EUR][1000 genomes]
rs72867392	1.00[EUR][1000 genomes]
rs72869014	1.00[EUR][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]
rs9859536	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:127 , 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	chr3:42922000-42922600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:42922000-42922600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr3:42922000-42922600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr3:42922000-42922600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr3:42922000-42922600	Active TSS	HSMM	muscle
8	chr3:42922000-42922800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr3:42922000-42922800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:42922000-42922800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:42922000-42922800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr3:42922000-42922800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:42922000-42922800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:42922000-42922800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr3:42922000-42922800	Active TSS	Aorta	Aorta
16	chr3:42922000-42922800	Active TSS	Brain Cingulate Gyrus	brain
17	chr3:42922000-42922800	Active TSS	Brain Substantia Nigra	brain
18	chr3:42922000-42922800	Active TSS	GM12878-XiMat	blood
19	chr3:42922000-42923000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr3:42922000-42923000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:42922000-42923000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:42922000-42923000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:42922000-42923000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr3:42922000-42923000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr3:42922000-42923000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr3:42922000-42923000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr3:42922000-42923000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:42922000-42923000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr3:42922000-42923000	Enhancers	Fetal Heart	heart
30	chr3:42922000-42923000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr3:42922000-42923000	Flanking Active TSS	Placenta	Placenta
32	chr3:42922000-42923000	Flanking Active TSS	Gastric	stomach
33	chr3:42922000-42923000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr3:42922000-42923000	Flanking Active TSS	Stomach Mucosa	stomach
35	chr3:42922000-42923000	Bivalent/Poised TSS	A549	lung
36	chr3:42922000-42923200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr3:42922000-42923200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:42922000-42923200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr3:42922000-42923200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:42922000-42923200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr3:42922000-42923200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:42922000-42923200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:42922000-42923200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr3:42922000-42923400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr3:42922000-42923400	Active TSS	Fetal Brain Female	brain
46	chr3:42922200-42922600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:42922200-42922600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
48	chr3:42922200-42922600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:42922200-42922600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr3:42922200-42922600	Active TSS	Liver	Liver

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