Variant report

Variant	rs2523733
Chromosome Location	chr6:30131515-30131516
allele	G/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	POLR2A	chr6:30130699-30131808	HepG2	liver:	n/a	n/a
2	MAX	chr6:30130752-30132018	HepG2	liver:	n/a	n/a
3	MAX	chr6:30130726-30132006	HepG2	liver:	n/a	n/a
4	YY1	chr6:30130813-30131870	HepG2	liver:	n/a	n/a
5	ZEB1	chr6:30130574-30132078	HepG2	liver:	n/a	n/a
6	MXI1	chr6:30130794-30131731	HepG2	liver:	n/a	n/a
7	MYBL2	chr6:30130674-30131693	HepG2	liver:	n/a	n/a
8	TAF1	chr6:30130708-30131751	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:30130740-30131523	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:30131459-30131527	MCF-7	breast:	n/a	n/a
11	MAX	chr6:30130902-30131594	HepG2	liver:	n/a	n/a
12	HDAC2	chr6:30130678-30131775	HepG2	liver:	n/a	chr6:30130979-30130987
13	CEBPD	chr6:30130677-30131642	HepG2	liver:	n/a	n/a
14	RCOR1	chr6:30130832-30131854	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:30130729-30131659	HepG2	liver:	n/a	n/a
16	MBD4	chr6:30130670-30131591	HepG2	liver:	n/a	n/a
17	SIN3AK20	chr6:30130807-30131647	HepG2	liver:	n/a	n/a
18	NFIC	chr6:30130739-30131703	HepG2	liver:	n/a	n/a
19	EGR1	chr6:30130499-30131536	HCT-116	colon:	n/a	chr6:30130926-30130937 chr6:30130924-30130939 chr6:30131084-30131108 chr6:30130926-30130936 chr6:30130925-30130938 chr6:30130926-30130936 chr6:30130924-30130938 chr6:30130923-30130933 chr6:30130925-30130938 chr6:30130925-30130938 chr6:30130935-30130944
20	TAF1	chr6:30130760-30131751	HepG2	liver:	n/a	n/a
21	HEY1	chr6:30130732-30131630	HepG2	liver:	n/a	n/a
22	NFIC	chr6:30130776-30131517	HepG2	liver:	n/a	n/a
23	TEAD4	chr6:30130722-30131645	HepG2	liver:	n/a	n/a
24	SP1	chr6:30130731-30131542	HepG2	liver:	n/a	chr6:30130922-30130934
25	HNF4A	chr6:30130738-30131524	HepG2	liver:	n/a	chr6:30131222-30131237 chr6:30130978-30130993 chr6:30130979-30130987 chr6:30131222-30131237
26	POLR2A	chr6:30130743-30131631	HepG2	liver:	n/a	n/a
27	MYBL2	chr6:30130640-30131664	HepG2	liver:	n/a	n/a
28	MAZ	chr6:30131515-30131654	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:30130737-30131586	HepG2	liver:	n/a	n/a
30	HNF4A	chr6:30130750-30131708	HepG2	liver:	n/a	chr6:30131222-30131237 chr6:30130978-30130993 chr6:30130979-30130987 chr6:30131222-30131237
31	ZEB1	chr6:30130597-30131644	HepG2	liver:	n/a	n/a
32	HNF4G	chr6:30130733-30131638	HepG2	liver:	n/a	chr6:30130978-30130993 chr6:30130979-30130987 chr6:30131222-30131237
33	MBD4	chr6:30130741-30131560	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30131467-30131517	SK-N-SH_RA	brain:	n/a
2	chr6:30131467-30131517	H1-hESC	embryonic stem cell:	embryo
3	chr6:30131467-30131517	SK-N-MC	brain:	n/a
4	chr6:30131467-30131517	U87	brain:	n/a
5	chr6:30131467-30131517	Jurkat	blood:	n/a
6	chr6:30131467-30131517	HCPEpiC	choroid plexus:	n/a
7	chr6:30131467-30131517	AoSMC	blood vessel:	n/a
8	chr6:30131467-30131517	Caco-2	colon:	n/a
9	chr6:30131467-30131517	AG09319	gingival:	n/a
10	chr6:30131467-30131517	HRPEpiC	eye:	n/a
11	chr6:30131467-30131517	CMK	blood:	n/a
12	chr6:30131467-30131517	PrEC	prostate:	n/a
13	chr6:30131467-30131517	HepG2	liver:	n/a
14	chr6:30131467-30131517	HIPEpiC	eye:	n/a
15	chr6:30131467-30131517	ovcar-3	ovarian:	n/a
16	chr6:30131467-30131517	HAEpiC	amniotic membrane:	n/a
17	chr6:30131467-30131517	Hela-S3	cervix:	n/a
18	chr6:30131467-30131517	A549	lung:	n/a
19	chr6:30131467-30131517	NT2-D1	testis:	n/a
20	chr6:30131467-30131517	MCF10A-Er-Src	breast:	n/a
21	chr6:30131467-30131517	NHBE	bronchial:	n/a
22	chr6:30131467-30131517	K562	blood:	n/a
23	chr6:30131467-30131517	RPTEC	kidney:	n/a
24	chr6:30131467-30131517	BJ	skin:	n/a
25	chr6:30131467-30131517	GM12878	blood:	n/a
26	chr6:30131467-30131517	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:30131467-30131517	HEK293	kidney:	embryo
28	chr6:30131467-30131517	Hepatocyte	liver:	n/a
29	chr6:30131467-30131517	GM19239	blood:	n/a
30	chr6:30131467-30131517	AG04449	skin:	fetal
31	chr6:30131467-30131517	HNPCEpiC	eye:	n/a
32	chr6:30131467-30131517	PANC-1	pancreas:	n/a
33	chr6:30131467-30131517	GM12891	blood:	n/a
34	chr6:30131467-30131517	HL-60	blood:	n/a
35	chr6:30131467-30131517	NHDF-neo	bronchial:	n/a
36	chr6:30131467-30131517	T-47D	breast:	n/a
37	chr6:30131467-30131517	GM12892	blood:	n/a
38	chr6:30131467-30131517	SKMC	muscle:	n/a
39	chr6:30131467-30131517	LNCaP	prostate:	n/a
40	chr6:30131467-30131517	HRE	kidney:	n/a
41	chr6:30131467-30131517	HCM	heart:	n/a
42	chr6:30131467-30131517	BE2_C	brain:	n/a
43	chr6:30131467-30131517	HMEC	breast:	n/a
44	chr6:30131467-30131517	NH-A	brain:	n/a
45	chr6:30131467-30131517	ECC-1	luminal epithelium:	n/a
46	chr6:30131467-30131517	ProgFib	skin:	n/a
47	chr6:30131467-30131517	AG09309	skin:	n/a
48	chr6:30131467-30131517	SAEC	small airway:	n/a
49	chr6:30131467-30131517	HCF	heart:	n/a
50	chr6:30131467-30131517	AG10803	skin:	n/a

Variant related genes	Relation type
TRIM15	TF binding region
TRIM10	TF binding region
TRIM10	CpG island
TRIM15	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1123966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021723	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2021731	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2107195	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2244066	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2257914	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2517591	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2517593	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2523734	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2523974	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2844784	0.88[AFR][1000 genomes]
rs2844798	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2523733	ZNF165	cis	parietal	SCAN
rs2523733	ZKSCAN4	cis	cerebellum	SCAN
rs2523733	HIST1H2BN	cis	parietal	SCAN
rs2523733	HIST1H4F	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30124800-30132600	Weak transcription	Right Atrium	heart
2	chr6:30130200-30133000	Active TSS	Colonic Mucosa	Colon
3	chr6:30130400-30132800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr6:30130600-30131800	Active TSS	Fetal Intestine Small	intestine
5	chr6:30130600-30132000	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr6:30130800-30131600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:30130800-30131800	Active TSS	Liver	Liver
8	chr6:30130800-30132000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:30130800-30132000	Bivalent Enhancer	Dnd41	blood
10	chr6:30130800-30132400	Active TSS	Duodenum Mucosa	Duodenum
11	chr6:30130800-30132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:30130800-30132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:30131000-30131800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:30131000-30132800	Active TSS	Rectal Smooth Muscle	rectum
15	chr6:30131200-30131600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr6:30131200-30131600	Enhancers	Pancreas	Pancrea
17	chr6:30131200-30131600	Active TSS	Stomach Mucosa	stomach
18	chr6:30131200-30132400	Bivalent/Poised TSS	HepG2	liver
19	chr6:30131200-30134200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:30131400-30131600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:30131400-30131600	Active TSS	Hela-S3	cervix
22	chr6:30131400-30132000	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr6:30131400-30132800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:30131400-30132800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr6:30131400-30132800	Enhancers	K562	blood
26	chr6:30131400-30134800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:30131400-30134800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:30131400-30134800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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