Variant report

Variant	rs7115612
Chromosome Location	chr11:77300545-77300546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:77300275-77301715	GM12878	blood:	n/a	chr11:77300759-77300771
2	MYC	chr11:77300451-77300727	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr11:77300411-77300752	K562	blood:	n/a	n/a
4	TAF1	chr11:77300382-77300988	K562	blood:	n/a	n/a
5	SIN3AK20	chr11:77299807-77301958	MCF-7	breast:	n/a	n/a
6	TAF1	chr11:77300521-77301270	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:77300316-77301867	Hela-S3	cervix:	n/a	n/a
8	MYC	chr11:77300292-77301161	K562	blood:	n/a	n/a
9	GTF2F1	chr11:77300234-77300573	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:77300109-77300815	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr11:77300512-77300657	GM19238	blood:	n/a	chr11:77300578-77300588
12	CTCF	chr11:77300529-77300684	Pancreas_OC	pancreas:	n/a	chr11:77300578-77300588
13	POLR2A	chr11:77300312-77301521	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:77299923-77302161	HepG2	liver:	n/a	n/a
15	MAX	chr11:77300419-77301611	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:77300366-77301550	GM19193	blood:	n/a	n/a
17	CTCF	chr11:77300480-77300630	NHDF-neo	bronchial:	n/a	chr11:77300578-77300588
18	CTCF	chr11:77300400-77300550	HepG2	liver:	n/a	n/a
19	TCF7L2	chr11:77299802-77301737	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr11:77300421-77301157	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr11:77300535-77300640	K562	blood:	n/a	chr11:77300578-77300588
22	MAZ	chr11:77300380-77301118	HepG2	liver:	n/a	n/a
23	HCFC1	chr11:77300430-77301027	K562	blood:	n/a	n/a
24	CTCF	chr11:77300520-77300670	GM12871	blood:	n/a	chr11:77300578-77300588
25	MAX	chr11:77299984-77301900	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:77300308-77301717	MCF-7	breast:	n/a	n/a
27	YY1	chr11:77300307-77300752	GM12878	blood:	n/a	n/a
28	E2F6	chr11:77300350-77301664	H1-hESC	embryonic stem cell:	n/a	chr11:77300876-77300885
29	MAX	chr11:77299950-77301749	A549	lung:	n/a	n/a
30	YY1	chr11:77300179-77300656	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:77300521-77300775	MCF-7	breast:	n/a	chr11:77300578-77300588
32	MAX	chr11:77300089-77301531	A549	lung:	n/a	n/a
33	POLR2A	chr11:77300352-77300747	GM12892	blood:	n/a	n/a
34	FOSL2	chr11:77300328-77301201	HepG2	liver:	n/a	chr11:77300875-77300884
35	CTCF	chr11:77300480-77300630	GM12864	blood:	n/a	chr11:77300578-77300588
36	CTCF	chr11:77300530-77300636	A549	lung:	n/a	chr11:77300578-77300588
37	MXI1	chr11:77300088-77301665	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:77300514-77300770	GM12891	blood:	n/a	n/a
39	TAF1	chr11:77300247-77300888	ECC-1	luminal epithelium:	n/a	n/a
40	ELF1	chr11:77300512-77301068	K562	blood:	n/a	chr11:77300759-77300771
41	CREB1	chr11:77300205-77301754	HepG2	liver:	n/a	n/a
42	TAF1	chr11:77300297-77301093	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr11:77300342-77301202	ECC-1	luminal epithelium:	n/a	n/a
44	ZNF263	chr11:77300382-77301530	HEK293-T-REx	kidney:	n/a	n/a
45	YY1	chr11:77300358-77301595	HepG2	liver:	n/a	chr11:77300953-77300964 chr11:77300759-77300773
46	CTCF	chr11:77300500-77300650	GM12865	blood:	n/a	chr11:77300578-77300588
47	RFX5	chr11:77300448-77300703	Hela-S3	cervix:	n/a	n/a
48	E2F6	chr11:77300101-77301547	K562	blood:	n/a	chr11:77300876-77300885
49	HDAC2	chr11:77300288-77301192	HepG2	liver:	n/a	chr11:77300505-77300519 chr11:77300333-77300347
50	POLR2A	chr11:77300364-77301684	GM12892	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:77300530-77300580	HCM	heart:	n/a
2	chr11:77300530-77300580	AG09309	skin:	n/a
3	chr11:77300504-77300554	PANC-1	pancreas:	n/a
4	chr11:77300504-77300554	Caco-2	colon:	n/a
5	chr11:77300530-77300580	NH-A	brain:	n/a
6	chr11:77300504-77300554	T-47D	breast:	n/a
7	chr11:77300530-77300580	Jurkat	blood:	n/a
8	chr11:77300530-77300580	MCF-7	breast:	n/a
9	chr11:77300530-77300580	GM06990	blood:	n/a
10	chr11:77300504-77300554	Jurkat	blood:	n/a
11	chr11:77300504-77300554	HCPEpiC	choroid plexus:	n/a
12	chr11:77300504-77300554	SAEC	small airway:	n/a
13	chr11:77300504-77300554	SK-N-MC	brain:	n/a
14	chr11:77300530-77300580	PANC-1	pancreas:	n/a
15	chr11:77300504-77300554	HRE	kidney:	n/a
16	chr11:77300504-77300554	PFSK-1	brain:	n/a
17	chr11:77300504-77300554	AG09319	gingival:	n/a
18	chr11:77300504-77300554	SKMC	muscle:	n/a
19	chr11:77300530-77300580	HMEC	breast:	n/a
20	chr11:77300504-77300554	HNPCEpiC	eye:	n/a
21	chr11:77300504-77300554	NT2-D1	testis:	n/a
22	chr11:77300530-77300580	HL-60	blood:	n/a
23	chr11:77300530-77300580	K562	blood:	n/a
24	chr11:77300530-77300580	HepG2	liver:	n/a
25	chr11:77300530-77300580	AG10803	skin:	n/a
26	chr11:77300504-77300554	BE2_C	brain:	n/a
27	chr11:77300530-77300580	ECC-1	luminal epithelium:	n/a
28	chr11:77300504-77300554	GM12891	blood:	n/a
29	chr11:77300504-77300554	AoSMC	blood vessel:	n/a
30	chr11:77300530-77300580	GM19239	blood:	n/a
31	chr11:77300504-77300554	LNCaP	prostate:	n/a
32	chr11:77300530-77300580	AG04450	lung:	fetal
33	chr11:77300530-77300580	BE2_C	brain:	n/a
34	chr11:77300504-77300554	HRCEpiC	kidney:	n/a
35	chr11:77300530-77300580	Hela-S3	cervix:	n/a
36	chr11:77300504-77300554	GM06990	blood:	n/a
37	chr11:77300530-77300580	Caco-2	colon:	n/a
38	chr11:77300504-77300554	HMEC	breast:	n/a
39	chr11:77300530-77300580	HAEpiC	amniotic membrane:	n/a
40	chr11:77300530-77300580	HCPEpiC	choroid plexus:	n/a
41	chr11:77300504-77300554	HIPEpiC	eye:	n/a
42	chr11:77300504-77300554	A549	lung:	n/a
43	chr11:77300504-77300554	AG04449	skin:	fetal
44	chr11:77300530-77300580	SK-N-SH	brain:	n/a
45	chr11:77300530-77300580	BJ	skin:	n/a
46	chr11:77300504-77300554	RPTEC	kidney:	n/a
47	chr11:77300530-77300580	AG09319	gingival:	n/a
48	chr11:77300504-77300554	HCM	heart:	n/a
49	chr11:77300504-77300554	NH-A	brain:	n/a
50	chr11:77300504-77300554	HPAEpiC	pulmonary alveolar:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:77300040..77302166-chr11:77305563..77307325,2	MCF-7	breast:
2	chr11:77299407..77303220-chr11:77304055..77306866,3	MCF-7	breast:
3	chr11:77276333..77280198-chr11:77299604..77302208,3	MCF-7	breast:
4	chr11:77299067..77304108-chr11:77304115..77308042,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP11-3	chr11:77300436-77300725	NONHSAT023223

No data

Variant related genes	Relation type
AQP11	TF binding region
AQP11	CpG island
ENSG00000271767	Chromatin interaction
ENSG00000238880	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10899398	0.81[MEX][hapmap]
rs10899403	0.81[MEX][hapmap]
rs10899405	0.81[MEX][hapmap]
rs10899406	0.81[MEX][hapmap]
rs10899409	0.81[MEX][hapmap]
rs11237217	0.89[ASN][1000 genomes]
rs11237295	0.81[MEX][hapmap]
rs1540180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1540181	0.82[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs1970749	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2013296	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2212317	0.81[MEX][hapmap]
rs4572159	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945181	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945188	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs496786	0.81[MEX][hapmap]
rs58219609	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6592726	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6592735	0.93[ASN][1000 genomes]
rs6592741	0.81[MEX][hapmap]
rs7946637	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9634032	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9666484	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv2752651	chr11:77211136-77318279	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7115612	AQP11	cis	parietal	SCAN
rs7115612	INTS4	cis	parietal	SCAN
rs7115612	INTS4	cis	cerebellum	SCAN
rs7115612	INTS4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77299600-77300600	Active TSS	Brain Germinal Matrix	brain
2	chr11:77299600-77300600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
3	chr11:77299600-77301000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:77299600-77301200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr11:77299600-77302000	Active TSS	Pancreas	Pancrea
6	chr11:77299800-77300600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:77299800-77300600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:77299800-77300600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:77299800-77300600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:77299800-77300600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:77299800-77300600	Flanking Active TSS	HMEC	breast
12	chr11:77299800-77301000	Active TSS	Gastric	stomach
13	chr11:77299800-77301000	Active TSS	NHLF	lung
14	chr11:77299800-77301200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:77299800-77301200	Active TSS	Brain Anterior Caudate	brain
16	chr11:77299800-77301400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:77299800-77301400	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr11:77299800-77301400	Active TSS	Brain Substantia Nigra	brain
19	chr11:77299800-77301400	Active TSS	Fetal Brain Female	brain
20	chr11:77299800-77301600	Active TSS	A549	lung
21	chr11:77299800-77301600	ZNF genes & repeats	Dnd41	blood
22	chr11:77299800-77301800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr11:77299800-77301800	Active TSS	Psoas Muscle	Psoas
24	chr11:77299800-77301800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr11:77299800-77301800	Active TSS	NHDF-Ad	bronchial
26	chr11:77299800-77302000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:77299800-77302400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:77299800-77302400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr11:77300000-77300600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr11:77300000-77300600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:77300000-77300600	Flanking Active TSS	Fetal Brain Male	brain
32	chr11:77300000-77301200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:77300000-77301200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:77300000-77301200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:77300000-77301200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:77300000-77301200	Active TSS	Left Ventricle	heart
37	chr11:77300000-77301200	Active TSS	Rectal Smooth Muscle	rectum
38	chr11:77300000-77301200	Active TSS	Right Ventricle	heart
39	chr11:77300000-77301200	Active TSS	HSMMtube	muscle
40	chr11:77300000-77301400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr11:77300000-77301400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr11:77300000-77301400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:77300000-77301400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr11:77300000-77301600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr11:77300000-77301600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:77300000-77301800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:77300000-77301800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:77300000-77301800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:77300000-77302000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:77300000-77302000	Active TSS	Aorta	Aorta

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