Variant report

Variant	rs11227311
Chromosome Location	chr11:65585257-65585258
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65512073..65513878-chr11:65584260..65586150,2	MCF-7	breast:
2	chr11:65582084..65587022-chr11:65624038..65628577,11	MCF-7	breast:
3	chr11:65546476..65549501-chr11:65584952..65586284,37	MCF-7	breast:
4	chr11:65486263..65489234-chr11:65583583..65585809,2	K562	blood:
5	chr11:65584486..65587354-chr11:65754171..65756928,3	K562	blood:
6	chr11:65545925..65552801-chr11:65581920..65586715,7	K562	blood:
7	chr11:65581685..65586123-chr11:65617566..65620999,8	K562	blood:
8	chr11:65554334..65555060-chr11:65585209..65586040,3	MCF-7	breast:
9	chr11:65478250..65482749-chr11:65583572..65587517,11	MCF-7	breast:
10	chr11:65546070..65548152-chr11:65584909..65587351,3	K562	blood:
11	chr11:65534519..65536964-chr11:65583133..65585899,2	K562	blood:
12	chr11:65536504..65538956-chr11:65583165..65585823,2	K562	blood:
13	chr11:65512051..65514239-chr11:65583382..65586329,2	K562	blood:
14	chr11:65584264..65587334-chr11:65598974..65601332,3	K562	blood:
15	chr11:65484062..65489605-chr11:65581322..65585682,6	MCF-7	breast:
16	chr11:65478915..65480473-chr11:65585248..65586290,16	MCF-7	breast:
17	chr11:65578671..65581535-chr11:65584408..65587256,5	K562	blood:
18	chr11:65581909..65583491-chr11:65584242..65587282,3	K562	blood:
19	chr11:65552345..65559376-chr11:65580965..65587386,14	MCF-7	breast:
20	chr11:65478558..65482535-chr11:65584117..65589770,6	MCF-7	breast:
21	chr11:65559464..65561142-chr11:65583061..65585771,2	MCF-7	breast:
22	chr11:65511597..65512884-chr11:65585147..65586477,30	MCF-7	breast:
23	chr11:65546622..65548622-chr11:65584340..65586362,19	K562	blood:
24	chr11:65536622..65537945-chr11:65585138..65586153,5	MCF-7	breast:
25	chr11:65536802..65537911-chr11:65585211..65586346,4	MCF-7	breast:
26	chr11:65546417..65548238-chr11:65584736..65586372,65	MCF-7	breast:
27	chr11:65583782..65587125-chr11:65623983..65628474,5	K562	blood:
28	chr11:65581575..65585638-chr11:65589269..65592512,3	K562	blood:
29	chr11:65581909..65583782-chr11:65584242..65586830,2	K562	blood:
30	chr11:65273468..65276593-chr11:65582844..65587199,4	K562	blood:
31	chr11:65478477..65481649-chr11:65584487..65588308,4	K562	blood:
32	chr11:65541153..65542313-chr11:65585085..65586334,9	MCF-7	breast:
33	chr11:65584338..65587063-chr11:65817506..65819503,2	K562	blood:
34	chr11:65581388..65588369-chr11:65620968..65629930,12	MCF-7	breast:
35	chr11:65546140..65552176-chr11:65581336..65587164,12	MCF-7	breast:
36	chr11:65584332..65587287-chr11:65655323..65657100,2	K562	blood:
37	chr11:65576729..65577277-chr11:65585230..65585837,2	K562	blood:
38	chr11:65583716..65586107-chr11:65625688..65628072,3	K562	blood:
39	chr11:65583886..65587148-chr11:65616110..65620547,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000087365	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172803	Chromatin interaction
ENSG00000255557	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172818	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10750772	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791827	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896047	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896051	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896052	0.90[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896061	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896064	0.81[ASN][1000 genomes]
rs11227309	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227318	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602769	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575663	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576996	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs13817	0.86[GIH][hapmap]
rs1939212	0.82[GIH][hapmap]
rs35083694	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3892696	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs3903072	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485036	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930320	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930326	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs501630	0.90[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs558114	0.84[GIH][hapmap]
rs566266	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570387	0.96[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs575631	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs594689	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs630303	0.84[GIH][hapmap]
rs633800	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs635375	0.84[GIH][hapmap]
rs648732	0.84[GIH][hapmap]
rs652021	0.84[GIH][hapmap]
rs656040	0.86[GIH][hapmap]
rs659824	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.82[ASN][1000 genomes]
rs659857	0.84[GIH][hapmap]
rs665306	0.84[GIH][hapmap]
rs668356	0.84[GIH][hapmap]
rs674126	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7107912	0.90[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7123155	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875311	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers 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	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11227311	CARNS1	cis	cerebellum	SCAN
rs11227311	SNX32	cis	Whole Blood	GTEx
rs11227311	LRRN4CL	cis	cerebellum	SCAN
rs11227311	PACS1	cis	parietal	SCAN
rs11227311	SNX32	cis	cerebellum	SCAN
rs11227311	SNX32	cis	parietal	SCAN
rs11227311	EIF1AD	cis	parietal	SCAN
rs11227311	EFEMP2	cis	cerebellum	SCAN
rs11227311	PRDX5	cis	cerebellum	SCAN
rs11227311	RAB1B	cis	cerebellum	SCAN
rs11227311	PRDX5	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65576400-65586000	Weak transcription	Spleen	Spleen
2	chr11:65578200-65585400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:65578200-65585400	Weak transcription	Gastric	stomach
4	chr11:65584200-65586200	Flanking Active TSS	Dnd41	blood
5	chr11:65584200-65586400	Enhancers	Fetal Heart	heart
6	chr11:65584400-65585400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:65584400-65585600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:65584400-65585800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:65584400-65586000	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:65584400-65586200	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:65584600-65585800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65584600-65585800	Active TSS	NHDF-Ad	bronchial
13	chr11:65584600-65586000	Active TSS	Hela-S3	cervix
14	chr11:65584800-65585400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:65584800-65585400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:65584800-65585400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:65584800-65585800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:65584800-65585800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:65584800-65586000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:65584800-65586000	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:65584800-65586200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:65584800-65586200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:65584800-65586200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:65584800-65586200	Active TSS	Fetal Kidney	kidney
25	chr11:65584800-65586400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:65585000-65585400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr11:65585000-65585400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:65585000-65585400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:65585000-65585400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:65585000-65585400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:65585000-65585400	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr11:65585000-65585400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr11:65585000-65585400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:65585000-65585400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr11:65585000-65585400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr11:65585000-65585400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:65585000-65585400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:65585000-65585400	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr11:65585000-65585400	Weak transcription	Small Intestine	intestine
40	chr11:65585000-65585400	Flanking Active TSS	A549	lung
41	chr11:65585000-65585400	Flanking Active TSS	GM12878-XiMat	blood
42	chr11:65585000-65585400	Flanking Active TSS	NHLF	lung
43	chr11:65585000-65585600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:65585000-65585600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr11:65585000-65585600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:65585000-65585600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:65585000-65585600	Active TSS	Fetal Brain Male	brain
48	chr11:65585000-65585800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:65585000-65585800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr11:65585000-65585800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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