Variant report

Variant	rs3741148
Chromosome Location	chr11:73114723-73114724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73112182-73114764	HL-60	blood:	n/a	n/a
2	CTCF	chr11:73114580-73114730	BJ	skin:	n/a	n/a
3	POLR2A	chr11:73114303-73114930	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:73114426-73114987	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:73112311-73115213	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:73112209-73114863	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:73111228-73115333	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:73114532-73114825	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:73114666-73114729	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:73114211-73114927	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:73112393-73115451	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:73114318-73114810	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr11:73114270-73114928	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:73114244-73114993	HL-60	blood:	n/a	n/a
15	POLR2A	chr11:73112271-73115418	A549	lung:	n/a	n/a
16	POLR2A	chr11:73112300-73114898	K562	blood:	n/a	n/a
17	POLR2A	chr11:73114203-73114923	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:73114560-73114827	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:73114480-73114920	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:73111226-73115898	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:73112150-73114968	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:73114271-73115023	GM12891	blood:	n/a	n/a
23	CTCF	chr11:73114680-73114830	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr11:73114720-73114870	HBMEC	blood vessel:	n/a	n/a

No data

(count:8 , 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	chr11:73109121..73112181-chr11:73112375..73115305,3	MCF-7	breast:
6	chr11:73113711..73116580-chr11:73369932..73372135,2	MCF-7	breast:
7	chr11:73111799..73116221-chr11:73117237..73120913,5	K562	blood:
8	chr11:73111818..73115266-chr11:73122319..73124692,3	K562	blood:

No data

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

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1002126	0.87[CEU][hapmap]
rs10047442	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793060	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898925	0.94[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11235729	0.89[EUR][1000 genomes]
rs11235743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235746	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11820786	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11820929	1.00[CHB][hapmap]
rs11821094	0.85[CHB][hapmap]
rs11823923	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs11824614	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs11826896	0.83[CEU][hapmap];0.95[GIH][hapmap];0.96[YRI][hapmap]
rs11826909	0.82[CEU][hapmap];0.92[YRI][hapmap]
rs12275766	0.85[CHB][hapmap]
rs12276536	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12282282	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs12295744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs12421053	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs1894076	0.85[CHB][hapmap]
rs1939382	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2027761	0.85[CHB][hapmap]
rs2027763	0.85[CHB][hapmap]
rs2298807	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs2366780	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3741149	0.85[CHB][hapmap]
rs55751428	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56801796	0.87[EUR][1000 genomes]
rs6592521	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs6592523	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7101831	0.83[CEU][hapmap];0.96[YRI][hapmap]
rs7114009	0.89[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7119167	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7122560	0.88[EUR][1000 genomes]
rs7127171	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7131383	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs725103	0.85[CHB][hapmap]
rs7342205	0.85[CHB][hapmap]
rs73542998	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7925573	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7930880	0.85[CHB][hapmap]
rs7935204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7937066	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7944099	0.85[CHB][hapmap]
rs7945596	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7948630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs7950002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952686	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs876480	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs880317	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs947837	0.85[CHB][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3741148	ANO1	cis	parietal	SCAN

Chromatin state (count:119 , 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	chr11:73107200-73114800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:73107200-73116200	Weak transcription	Lung	lung
31	chr11:73107800-73115800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:73107800-73116200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:73107800-73117600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:73108200-73115600	Weak transcription	Hela-S3	cervix
35	chr11:73108200-73116200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:73108400-73115800	Weak transcription	Aorta	Aorta
37	chr11:73108400-73116400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:73108800-73115800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:73109000-73114800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:73109000-73115000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:73109200-73116000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:73109200-73116000	Weak transcription	Placenta	Placenta
43	chr11:73109400-73115800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:73109600-73115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:73109800-73116200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:73110000-73120000	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:73110200-73114800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:73110200-73116000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:73110200-73116000	Weak transcription	Dnd41	blood
50	chr11:73110200-73116600	Weak transcription	Right Ventricle	heart

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