Variant report

Variant	rs501690
Chromosome Location	chr11:66015304-66015305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66015001..66021164-chr11:66021602..66026109,13	K562	blood:
2	chr11:66014122..66016479-chr11:66016572..66018624,2	MCF-7	breast:
3	chr11:66014152..66016953-chr11:66018203..66021545,3	K562	blood:
4	chr11:66008820..66013375-chr11:66014449..66019196,6	K562	blood:
5	chr11:66002140..66004683-chr11:66014774..66017748,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174996	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10750773	0.83[AMR][1000 genomes]
rs10791844	1.00[AMR][1000 genomes]
rs11227418	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823726	0.84[AFR][1000 genomes]
rs12290898	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1627404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17147342	0.89[ASW][hapmap];0.95[LWK][hapmap]
rs34725821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs495684	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501979	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541268	0.97[AFR][1000 genomes]
rs548858	0.89[ASW][hapmap];0.89[LWK][hapmap];0.83[AMR][1000 genomes]
rs558480	0.89[LWK][hapmap];0.83[AMR][1000 genomes]
rs561948	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591206	0.97[AFR][1000 genomes]
rs7131001	0.83[AMR][1000 genomes]
rs7937763	0.83[AMR][1000 genomes]
rs9326366	0.83[AMR][1000 genomes]
rs9326367	0.83[AMR][1000 genomes]
rs9326368	1.00[AMR][1000 genomes]
rs9326369	1.00[AMR][1000 genomes]
rs9667583	0.83[AMR][1000 genomes]
rs9667922	0.83[AMR][1000 genomes]
rs9737415	0.89[ASW][hapmap];0.80[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:65985800-66017800	Weak transcription	Fetal Heart	heart
4	chr11:65989600-66024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:65990200-66019800	Strong transcription	Primary T cells from cord blood	blood
6	chr11:65990600-66015800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:65990600-66018400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:65990800-66018600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:65991000-66015400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:65991200-66018600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:65991200-66018600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:65991600-66018400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:65991600-66018400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:65991800-66018400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:65993800-66018400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr11:65994400-66018600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:65994600-66018600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:65995000-66018000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:65995000-66018800	Strong transcription	Fetal Intestine Small	intestine
20	chr11:65995200-66015600	Strong transcription	Lung	lung
21	chr11:65996000-66024400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:65997400-66018600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:65997600-66015400	Strong transcription	Brain Germinal Matrix	brain
24	chr11:65997600-66018400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:65998000-66018600	Strong transcription	Fetal Brain Female	brain
26	chr11:65999800-66024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:66000800-66024200	Weak transcription	HMEC	breast
28	chr11:66001600-66024200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:66002000-66021000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:66003400-66017400	Weak transcription	Hela-S3	cervix
31	chr11:66003400-66024200	Weak transcription	HepG2	liver
32	chr11:66003400-66024200	Weak transcription	NHDF-Ad	bronchial
33	chr11:66004000-66020800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:66006800-66017800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:66006800-66024600	Weak transcription	Ovary	ovary
36	chr11:66007000-66024200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:66007200-66024200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:66007800-66024200	Weak transcription	Small Intestine	intestine
39	chr11:66008000-66023800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:66008200-66021200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:66009200-66015400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:66009200-66024000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:66009600-66023600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:66009800-66023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:66009800-66024000	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:66010000-66016800	Weak transcription	GM12878-XiMat	blood
47	chr11:66010400-66024200	Weak transcription	Stomach Mucosa	stomach
48	chr11:66010600-66024000	Weak transcription	Primary B cells from cord blood	blood
49	chr11:66010600-66024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:66010600-66024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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