Variant report

Variant	rs17188113
Chromosome Location	chr6:30131123-30131124
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	CEBPB	chr6:30130592-30131401	HCT-116	colon:	n/a	n/a
2	POLR2A	chr6:30130821-30131486	HepG2	liver:	n/a	n/a
3	HNF4G	chr6:30130739-30131506	HepG2	liver:	n/a	chr6:30130978-30130993 chr6:30130979-30130987 chr6:30131222-30131237
4	CEBPB	chr6:30130748-30131170	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:30130699-30131808	HepG2	liver:	n/a	n/a
6	MAX	chr6:30130752-30132018	HepG2	liver:	n/a	n/a
7	CHD2	chr6:30131036-30131449	HepG2	liver:	n/a	n/a
8	MAX	chr6:30130726-30132006	HepG2	liver:	n/a	n/a
9	TEAD4	chr6:30130993-30131365	HepG2	liver:	n/a	n/a
10	EGR1	chr6:30130574-30131420	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
11	MAFF	chr6:30131001-30131311	HepG2	liver:	n/a	n/a
12	YY1	chr6:30130813-30131870	HepG2	liver:	n/a	n/a
13	FOS	chr6:30130782-30131180	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:30130863-30131132	MCF-7	breast:	n/a	n/a
15	ZEB1	chr6:30130574-30132078	HepG2	liver:	n/a	n/a
16	MAZ	chr6:30130920-30131305	HepG2	liver:	n/a	n/a
17	MXI1	chr6:30130794-30131731	HepG2	liver:	n/a	n/a
18	ELF1	chr6:30130764-30131425	HepG2	liver:	n/a	chr6:30130936-30130945
19	MYBL2	chr6:30130674-30131693	HepG2	liver:	n/a	n/a
20	TAF1	chr6:30130708-30131751	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:30130740-30131523	HepG2	liver:	n/a	n/a
22	MAFK	chr6:30131102-30131269	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:30130969-30131205	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr6:30130727-30131400	HepG2	liver:	n/a	n/a
25	FOSL2	chr6:30130752-30131489	HepG2	liver:	n/a	n/a
26	CEBPB	chr6:30130759-30131133	ECC-1	luminal epithelium:	n/a	n/a
27	MYC	chr6:30130839-30131200	MCF10A-Er-Src	breast:	n/a	n/a
28	NFYA	chr6:30130903-30131283	Hela-S3	cervix:	n/a	n/a
29	MYC	chr6:30130842-30131245	MCF10A-Er-Src	breast:	n/a	n/a
30	MAX	chr6:30130902-30131594	HepG2	liver:	n/a	n/a
31	REST	chr6:30130740-30131443	HepG2	liver:	n/a	chr6:30130918-30130925 chr6:30131282-30131295
32	HDAC2	chr6:30130678-30131775	HepG2	liver:	n/a	chr6:30130979-30130987
33	TBP	chr6:30130806-30131504	HepG2	liver:	n/a	n/a
34	CEBPD	chr6:30130677-30131642	HepG2	liver:	n/a	n/a
35	ELF1	chr6:30130742-30131401	HepG2	liver:	n/a	chr6:30130936-30130945
36	EP300	chr6:30130737-30131514	HepG2	liver:	n/a	chr6:30130936-30130943
37	TCF7L2	chr6:30130853-30131187	Hela-S3	cervix:	n/a	chr6:30130983-30130993 chr6:30130982-30130991
38	SIN3AK20	chr6:30130748-30131479	HepG2	liver:	n/a	n/a
39	RCOR1	chr6:30130832-30131854	HepG2	liver:	n/a	n/a
40	FOXA1	chr6:30130729-30131659	HepG2	liver:	n/a	n/a
41	MBD4	chr6:30130670-30131591	HepG2	liver:	n/a	n/a
42	ELK4	chr6:30130795-30131145	Hela-S3	cervix:	n/a	chr6:30130935-30130944 chr6:30130933-30130944
43	FOXA2	chr6:30130725-30131404	HepG2	liver:	n/a	n/a
44	JUND	chr6:30130816-30131508	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr6:30130807-30131647	HepG2	liver:	n/a	n/a
46	NFIC	chr6:30130739-30131703	HepG2	liver:	n/a	n/a
47	ZBTB33	chr6:30130736-30131146	HCT-116	colon:	n/a	n/a
48	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
49	RCOR1	chr6:30130941-30131141	K562	blood:	n/a	n/a
50	TEAD4	chr6:30130846-30131303	K562	blood:	n/a	n/a

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

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12175655	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12660499	0.82[EUR][1000 genomes]
rs17188015	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17194460	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2074477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239531	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2284167	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2284171	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28730510	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3734837	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3815081	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41272587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41272591	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4282437	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56307380	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62390201	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62390202	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9348838	0.81[EUR][1000 genomes]
rs9366753	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9366754	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9368622	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368624	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9378189	0.81[EUR][1000 genomes]
rs9378221	0.82[ASN][1000 genomes]
rs9380156	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9391677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9391802	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17188113	HCG18	Cis_1M	lymphoblastoid	RTeQTL
rs17188113	TRIM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30124800-30132600	Weak transcription	Right Atrium	heart
2	chr6:30130200-30131200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr6:30130200-30131200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:30130200-30131400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:30130200-30133000	Active TSS	Colonic Mucosa	Colon
6	chr6:30130400-30131200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:30130400-30132800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr6:30130600-30131200	Active TSS	HepG2	liver
9	chr6:30130600-30131400	Active TSS	Fetal Intestine Large	intestine
10	chr6:30130600-30131800	Active TSS	Fetal Intestine Small	intestine
11	chr6:30130600-30132000	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr6:30130800-30131200	Enhancers	Fetal Thymus	thymus
13	chr6:30130800-30131200	Flanking Active TSS	A549	lung
14	chr6:30130800-30131400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr6:30130800-30131400	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:30130800-30131400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:30130800-30131400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:30130800-30131400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:30130800-30131400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:30130800-30131400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:30130800-30131400	Bivalent Enhancer	Placenta	Placenta
22	chr6:30130800-30131400	Enhancers	HMEC	breast
23	chr6:30130800-30131600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:30130800-30131800	Active TSS	Liver	Liver
25	chr6:30130800-30132000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:30130800-30132000	Bivalent Enhancer	Dnd41	blood
27	chr6:30130800-30132400	Active TSS	Duodenum Mucosa	Duodenum
28	chr6:30130800-30132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:30130800-30132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:30131000-30131200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr6:30131000-30131200	Flanking Active TSS	Stomach Mucosa	stomach
32	chr6:30131000-30131400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:30131000-30131400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:30131000-30131400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr6:30131000-30131400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr6:30131000-30131400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr6:30131000-30131400	Flanking Active TSS	Hela-S3	cervix
38	chr6:30131000-30131400	Flanking Active TSS	K562	blood
39	chr6:30131000-30131800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:30131000-30132800	Active TSS	Rectal Smooth Muscle	rectum

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