Variant report

Variant	rs2032395
Chromosome Location	chr11:77314503-77314504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77308638..77311574-chr11:77313096..77315121,2	K562	blood:
2	chr11:77300395..77303084-chr11:77310966..77314661,4	MCF-7	breast:
3	chr11:77313691..77315656-chr11:77340049..77342941,2	K562	blood:
4	chr11:77312895..77314636-chr11:77327527..77329111,2	K562	blood:

Variant related genes	Relation type
ENSG00000178301	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10160677	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10793255	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10899386	0.89[ASN][1000 genomes]
rs10899387	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899389	0.89[ASN][1000 genomes]
rs10899394	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11237215	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11237220	0.86[EUR][1000 genomes]
rs11237225	0.87[EUR][1000 genomes]
rs11237236	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11237244	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11237246	0.88[EUR][1000 genomes]
rs11237249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11512896	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11602520	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11823651	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286317	0.84[GIH][hapmap];0.82[TSI][hapmap]
rs4509797	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs484363	0.82[TSI][hapmap]
rs537811	0.84[GIH][hapmap];0.82[TSI][hapmap]
rs643388	0.82[TSI][hapmap]
rs650171	0.84[GIH][hapmap]
rs6592738	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7129556	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72945508	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7927173	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7950873	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2032395	AQP11	cis	parietal	SCAN
rs2032395	INTS4	Cis_1M	lymphoblastoid	RTeQTL
rs2032395	INTS4	cis	cerebellum	SCAN
rs2032395	EDA2R	trans	parietal	SCAN
rs2032395	C11orf67	cis	cerebellum	SCAN
rs2032395	MOGAT2	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77301400-77346000	Weak transcription	Small Intestine	intestine
2	chr11:77301600-77317200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:77301600-77317800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr11:77301600-77318600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:77301600-77332800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:77301800-77316200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:77301800-77316600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:77301800-77317200	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:77301800-77318200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:77301800-77322400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:77301800-77326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:77301800-77332200	Weak transcription	Esophagus	oesophagus
13	chr11:77301800-77345800	Weak transcription	Spleen	Spleen
14	chr11:77302000-77315200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:77302000-77316000	Weak transcription	Fetal Stomach	stomach
16	chr11:77302000-77316400	Weak transcription	Fetal Lung	lung
17	chr11:77302000-77317400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:77302000-77318400	Weak transcription	Fetal Kidney	kidney
19	chr11:77302000-77322400	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:77302200-77317200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:77302200-77321400	Weak transcription	Fetal Brain Female	brain
22	chr11:77302200-77321800	Weak transcription	Brain Germinal Matrix	brain
23	chr11:77302600-77316600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:77303400-77322600	Weak transcription	Fetal Brain Male	brain
25	chr11:77305600-77326000	Weak transcription	Primary B cells from cord blood	blood
26	chr11:77308800-77318600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:77309800-77317400	Weak transcription	Placenta	Placenta
28	chr11:77310200-77317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:77310400-77317600	Weak transcription	Primary T cells from cord blood	blood
30	chr11:77310800-77329200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:77311400-77317800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:77311600-77316400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:77311600-77327200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:77312000-77317200	Weak transcription	Fetal Thymus	thymus
35	chr11:77312400-77314600	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:77312400-77314600	Enhancers	Fetal Intestine Large	intestine
37	chr11:77312400-77314800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:77312600-77315000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:77312600-77315200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:77312600-77315200	Enhancers	Hela-S3	cervix
41	chr11:77312600-77315600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:77312800-77314600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:77312800-77314600	Enhancers	HMEC	breast
44	chr11:77312800-77314800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:77312800-77314800	Enhancers	Fetal Intestine Small	intestine
46	chr11:77313000-77314600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:77313000-77317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:77313000-77321000	Weak transcription	GM12878-XiMat	blood
49	chr11:77313000-77322200	Weak transcription	Lung	lung
50	chr11:77313000-77327200	Weak transcription	Psoas Muscle	Psoas

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