Variant report

Variant	rs3015989
Chromosome Location	chr11:77171665-77171666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77167249..77169051-chr11:77170790..77173301,2	K562	blood:
2	chr11:77170599..77173535-chr11:77182172..77184556,2	K562	blood:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction
ENSG00000268635	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10793248	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899379	0.95[JPT][hapmap]
rs11607378	0.82[EUR][1000 genomes]
rs1225479	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1670459	0.82[JPT][hapmap]
rs1793476	0.82[JPT][hapmap]
rs1793483	0.82[JPT][hapmap]
rs1840151	0.81[ASN][1000 genomes]
rs1901821	0.82[CEU][hapmap]
rs2007466	0.81[EUR][1000 genomes]
rs2602465	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2602472	0.95[JPT][hapmap]
rs2725812	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs2729762	0.86[JPT][hapmap]
rs2844333	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2853097	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3015991	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015993	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019243	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3019258	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34420077	0.82[EUR][1000 genomes]
rs4433591	0.83[EUR][1000 genomes]
rs473012	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs476925	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs478134	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs478475	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs482243	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs487322	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs489038	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs491781	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs492527	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944155	0.82[EUR][1000 genomes]
rs4944158	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4945166	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs4945169	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs495889	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs497172	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs497946	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs499880	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500731	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs514191	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs517511	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs538670	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs539906	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs556696	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs561153	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs562939	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs568309	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57129983	0.82[EUR][1000 genomes]
rs575662	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs576079	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576997	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs584909	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs599437	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs605910	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs614775	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs618012	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61901769	0.81[EUR][1000 genomes]
rs61901802	0.88[EUR][1000 genomes]
rs628325	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs635291	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs639857	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6592715	0.84[EUR][1000 genomes]
rs667331	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs674652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs683497	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs688212	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7118869	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs7119033	0.80[ASN][1000 genomes]
rs721382	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73496890	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7928731	0.82[EUR][1000 genomes]
rs98703	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3015989	AQP11	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:77160600-77178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:77161200-77179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:77163000-77173400	Weak transcription	Placenta	Placenta
5	chr11:77165000-77172200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:77166200-77172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:77167800-77182000	Weak transcription	Fetal Kidney	kidney
8	chr11:77168400-77172200	Enhancers	Fetal Intestine Small	intestine
9	chr11:77168600-77173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:77168600-77173600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:77168600-77178800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:77168800-77179600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:77169000-77173000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:77169000-77174600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:77169000-77175200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:77169000-77181400	Weak transcription	Brain Angular Gyrus	brain
17	chr11:77169200-77173000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:77170400-77175200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:77170400-77176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:77170400-77178000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:77170600-77171800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:77170600-77171800	Weak transcription	Brain Anterior Caudate	brain
23	chr11:77170600-77171800	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:77170600-77174800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:77170600-77178000	Weak transcription	Small Intestine	intestine
26	chr11:77170800-77171800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:77170800-77175000	Weak transcription	GM12878-XiMat	blood
28	chr11:77170800-77178200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:77170800-77179000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:77171200-77175200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:77171200-77181600	Weak transcription	Primary B cells from cord blood	blood
32	chr11:77171400-77172000	Weak transcription	Stomach Mucosa	stomach
33	chr11:77171400-77172600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:77171400-77172600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:77171600-77172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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