Variant report

Variant	rs7114009
Chromosome Location	chr11:73115314-73115315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:223)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:73115237-73115338	GM10266	blood:	n/a	n/a
2	MYC	chr11:73115221-73115423	MCF-7	breast:	n/a	n/a
3	RAD21	chr11:73115166-73115449	HepG2	liver:	n/a	n/a
4	CTCF	chr11:73115119-73115451	GM12878	blood:	n/a	n/a
5	RCOR1	chr11:73115174-73115374	HepG2	liver:	n/a	n/a
6	RAD21	chr11:73115070-73115540	HCT-116	colon:	n/a	n/a
7	CTCF	chr11:73115220-73115370	HMEC	breast:	n/a	n/a
8	CTCF	chr11:73115220-73115370	BJ	skin:	n/a	n/a
9	ZNF143	chr11:73115202-73115438	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:73115154-73115378	SK-N-SH_RA	brain:	n/a	n/a
11	RAD21	chr11:73115005-73115511	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:73115220-73115370	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:73115220-73115370	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr11:73115258-73115337	GM10248	blood:	n/a	n/a
15	CTCF	chr11:73115238-73115355	GM19239	blood:	n/a	n/a
16	CTCF	chr11:73115205-73115383	GM19238	blood:	n/a	n/a
17	CTCF	chr11:73115220-73115370	GM12872	blood:	n/a	n/a
18	CTCF	chr11:73115148-73115421	HepG2	liver:	n/a	n/a
19	RAD21	chr11:73115098-73115463	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr11:73115213-73115361	GM19240	blood:	n/a	n/a
21	CTCF	chr11:73115036-73115566	HCT-116	colon:	n/a	n/a
22	CTCF	chr11:73115184-73115413	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:73115200-73115350	AG10803	skin:	n/a	n/a
24	CTCF	chr11:73115200-73115350	HepG2	liver:	n/a	n/a
25	ARID3A	chr11:73115167-73115394	HepG2	liver:	n/a	n/a
26	CTCF	chr11:73115201-73115363	GM12878	blood:	n/a	n/a
27	MAZ	chr11:73115152-73115462	HepG2	liver:	n/a	n/a
28	CTCF	chr11:73115200-73115350	GM12872	blood:	n/a	n/a
29	CTCF	chr11:73115240-73115390	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr11:73115200-73115350	HPF	lung:	n/a	n/a
31	CTCF	chr11:73115180-73115330	GM12870	blood:	n/a	n/a
32	CTCF	chr11:73115220-73115370	SK-N-SH_RA	brain:	n/a	n/a
33	SMC3	chr11:73115158-73115479	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr11:73115200-73115350	HFF	foreskin:	n/a	n/a
35	CTCF	chr11:73115220-73115370	AG04449	skin:	n/a	n/a
36	CTCF	chr11:73115096-73115486	K562	blood:	n/a	n/a
37	SMC3	chr11:73115099-73115492	HepG2	liver:	n/a	n/a
38	MAX	chr11:73115192-73115400	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr11:73115175-73115401	Medullo	brain:	n/a	n/a
40	POLR2A	chr11:73111228-73115333	GM12878	blood:	n/a	n/a
41	CTCF	chr11:73115240-73115390	HFF-Myc	foreskin:	n/a	n/a
42	ELF1	chr11:73115150-73115484	K562	blood:	n/a	n/a
43	MAFK	chr11:73115193-73115371	K562	blood:	n/a	n/a
44	CTCF	chr11:73115220-73115370	HAc	cerebellar:	n/a	n/a
45	CTCF	chr11:73115087-73115460	T-47D	breast:	n/a	n/a
46	CTCF	chr11:73115127-73115448	A549	lung:	n/a	n/a
47	CTCF	chr11:73115165-73115418	MCF-7	breast:	n/a	n/a
48	FOXA1	chr11:73115203-73115454	T-47D	breast:	n/a	n/a
49	CTCF	chr11:73115200-73115350	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr11:73115185-73115395	Pancreas_OC	pancreas:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73112642..73115479-chr11:73176315..73178999,2	MCF-7	breast:
2	chr11:73112653..73117037-chr11:73375086..73378284,4	MCF-7	breast:
3	chr11:73114553..73115793-chr11:73371630..73372835,7	MCF-7	breast:
4	chr11:73114698..73115543-chr11:73371649..73372416,6	K562	blood:
5	chr11:73113711..73116580-chr11:73369932..73372135,2	MCF-7	breast:
6	chr11:73111799..73116221-chr11:73117237..73120913,5	K562	blood:
7	chr11:73115070..73115787-chr11:73327302..73327932,2	MCF-7	breast:
8	chr11:73114846..73115405-chr11:73241365..73241917,2	MCF-7	breast:
9	chr11:73114875..73115740-chr11:73371666..73372740,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256448	TF binding region
ENSG00000252732	Chromatin interaction
ENSG00000021300	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1002126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1002127	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10047442	0.85[MKK][hapmap];0.96[YRI][hapmap]
rs10501411	0.89[CEU][hapmap]
rs10793060	0.88[MKK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs10898920	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs10898925	0.85[MKK][hapmap];0.96[YRI][hapmap]
rs11235729	0.82[ASN][1000 genomes]
rs11235738	1.00[JPT][hapmap]
rs11235743	0.83[AFR][1000 genomes]
rs11235745	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11235746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[ASN][1000 genomes]
rs11235759	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs11235770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11235775	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11235809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs11544310	0.93[EUR][1000 genomes]
rs11544311	0.83[EUR][1000 genomes]
rs11820929	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11821094	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11823923	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11824614	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826896	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[ASN][1000 genomes]
rs11826909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[ASN][1000 genomes]
rs11828904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12269884	1.00[JPT][hapmap]
rs12274589	1.00[JPT][hapmap]
rs12275766	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12276892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12282282	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12282790	1.00[JPT][hapmap]
rs12285885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs12288753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290835	1.00[JPT][hapmap]
rs12295744	0.92[YRI][hapmap]
rs12421053	0.82[YRI][hapmap]
rs17244596	1.00[CEU][hapmap]
rs17244602	1.00[CEU][hapmap]
rs17244616	1.00[CEU][hapmap]
rs17310361	1.00[CEU][hapmap]
rs17310374	1.00[CEU][hapmap]
rs17851510	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs1894076	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1938777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1939382	0.84[MKK][hapmap];1.00[YRI][hapmap]
rs2027760	0.89[CEU][hapmap]
rs2027761	0.89[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2027763	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2298469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298807	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2366780	0.85[MKK][hapmap];0.96[YRI][hapmap]
rs28641751	0.96[ASN][1000 genomes]
rs3741148	0.89[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs3741149	0.89[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs3741152	0.89[CEU][hapmap];0.89[MEX][hapmap]
rs3825005	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3933402	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs58334887	0.81[EUR][1000 genomes]
rs60078907	0.80[EUR][1000 genomes]
rs61345051	0.83[EUR][1000 genomes]
rs6592521	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6592523	0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs7101831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[ASN][1000 genomes]
rs7102197	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7105681	0.89[CEU][hapmap]
rs7110369	0.89[CEU][hapmap]
rs7112924	0.93[EUR][1000 genomes]
rs7113420	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7114376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7115055	1.00[CEU][hapmap]
rs7115806	0.89[CEU][hapmap]
rs7118982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119167	0.83[YRI][hapmap]
rs7122560	0.82[ASN][1000 genomes]
rs7122825	0.89[CEU][hapmap]
rs7123298	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7123985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs7125598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7125949	0.89[CEU][hapmap]
rs7125978	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7129990	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7131383	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7131397	1.00[JPT][hapmap]
rs724111	1.00[CEU][hapmap]
rs725103	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7342205	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs73542952	0.83[EUR][1000 genomes]
rs73542960	0.83[EUR][1000 genomes]
rs73542967	0.83[EUR][1000 genomes]
rs73542976	0.83[EUR][1000 genomes]
rs73542979	0.83[EUR][1000 genomes]
rs73542990	0.83[EUR][1000 genomes]
rs73542998	0.82[AFR][1000 genomes]
rs73544711	0.81[EUR][1000 genomes]
rs73544716	0.81[EUR][1000 genomes]
rs73544720	0.81[EUR][1000 genomes]
rs7925226	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7925573	0.87[MKK][hapmap];0.96[YRI][hapmap]
rs7927344	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7930454	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs7930880	0.89[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7934218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7935204	0.96[YRI][hapmap]
rs7935948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes]
rs7937066	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7938391	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7941359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7944099	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs7945825	1.00[CEU][hapmap]
rs7948630	0.84[YRI][hapmap]
rs7951072	1.00[CEU][hapmap]
rs7951174	0.85[ASN][1000 genomes]
rs7952686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs876480	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs880317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs947837	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9888218	1.00[JPT][hapmap]

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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7114009	P2RY2	cis	cerebellum	SCAN
rs7114009	ARHGEF17	cis	multi-tissue	Pritchard
rs7114009	CCND1	cis	cerebellum	SCAN
rs7114009	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73095200-73116200	Weak transcription	Liver	Liver
2	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
9	chr11:73100000-73116600	Weak transcription	Pancreas	Pancrea
10	chr11:73100000-73118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:73100200-73117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:73100600-73118600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:73100800-73115800	Weak transcription	HMEC	breast
14	chr11:73101000-73116200	Weak transcription	Brain Angular Gyrus	brain
15	chr11:73101000-73116400	Weak transcription	Brain Substantia Nigra	brain
16	chr11:73101200-73124800	Weak transcription	Psoas Muscle	Psoas
17	chr11:73103600-73118400	Weak transcription	Esophagus	oesophagus
18	chr11:73103800-73116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:73104000-73116200	Weak transcription	Brain Anterior Caudate	brain
20	chr11:73104600-73123400	Strong transcription	Fetal Stomach	stomach
21	chr11:73104800-73122600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:73105200-73116400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:73105200-73116800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:73105600-73116000	Weak transcription	Colonic Mucosa	Colon
25	chr11:73105800-73116600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:73106200-73116400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:73106400-73116600	Weak transcription	Gastric	stomach
28	chr11:73106400-73120200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:73107200-73116200	Weak transcription	Lung	lung
30	chr11:73107800-73115800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:73107800-73116200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:73107800-73117600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:73108200-73115600	Weak transcription	Hela-S3	cervix
34	chr11:73108200-73116200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:73108400-73115800	Weak transcription	Aorta	Aorta
36	chr11:73108400-73116400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:73108800-73115800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:73109200-73116000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:73109200-73116000	Weak transcription	Placenta	Placenta
40	chr11:73109400-73115800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:73109600-73115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:73109800-73116200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:73110000-73120000	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:73110200-73116000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:73110200-73116000	Weak transcription	Dnd41	blood
46	chr11:73110200-73116600	Weak transcription	Right Ventricle	heart
47	chr11:73110400-73116200	Weak transcription	Left Ventricle	heart
48	chr11:73110400-73116600	Weak transcription	NHEK	skin
49	chr11:73110600-73116400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:73110600-73121600	Weak transcription	NHDF-Ad	bronchial

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