Variant report

Variant	rs17147342
Chromosome Location	chr11:65882738-65882739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65879652..65882394-chr11:65882531..65887079,5	K562	blood:
2	chr11:65836821..65841267-chr11:65881295..65888359,12	MCF-7	breast:
3	chr11:65879009..65884313-chr11:65890112..65896035,10	MCF-7	breast:
4	chr11:65836711..65839156-chr11:65879952..65887031,7	MCF-7	breast:
5	chr11:65874972..65876623-chr11:65881726..65883847,2	K562	blood:
6	chr11:65882300..65885934-chr11:65892908..65896262,3	K562	blood:

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10750773	0.83[AMR][1000 genomes]
rs11227418	0.89[ASW][hapmap];0.95[LWK][hapmap]
rs11822080	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3814747	0.81[ASW][hapmap]
rs495684	0.89[ASW][hapmap];0.95[LWK][hapmap]
rs501690	0.89[ASW][hapmap];0.95[LWK][hapmap]
rs501979	0.89[ASW][hapmap];0.95[LWK][hapmap]
rs548858	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs558480	0.89[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs561948	0.89[ASW][hapmap];0.95[LWK][hapmap]
rs6591204	1.00[AMR][1000 genomes]
rs7131001	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7928507	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7937692	0.89[ASW][hapmap]
rs7937763	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7941487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9285797	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9326366	0.83[AMR][1000 genomes]
rs9326367	0.83[AMR][1000 genomes]
rs9667583	0.83[AMR][1000 genomes]
rs9667922	0.83[AMR][1000 genomes]
rs9704166	1.00[AMR][1000 genomes]
rs9737244	0.84[AFR][1000 genomes]
rs9737415	1.00[ASW][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	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
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:65868800-65886200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:65869000-65882800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:65874800-65882800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:65875000-65882800	Weak transcription	Fetal Kidney	kidney
7	chr11:65875000-65887200	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:65878000-65883000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:65878200-65882800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:65878200-65882800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr11:65878200-65885600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:65879000-65882800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:65879200-65883000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:65879200-65886600	Enhancers	Fetal Thymus	thymus
16	chr11:65879400-65884000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:65879400-65884400	Enhancers	Small Intestine	intestine
18	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:65879600-65882800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:65879600-65882800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:65879600-65883000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:65879600-65883000	Enhancers	HepG2	liver
23	chr11:65879600-65884800	Enhancers	Stomach Mucosa	stomach
24	chr11:65879800-65883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:65880000-65882800	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:65880000-65883000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:65880000-65883000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:65880000-65883600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:65880000-65884600	Weak transcription	Placenta	Placenta
30	chr11:65880000-65885800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:65880000-65885800	Weak transcription	Right Ventricle	heart
32	chr11:65880000-65887000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:65880200-65883000	Weak transcription	Spleen	Spleen
34	chr11:65880200-65883000	Enhancers	HUVEC	blood vessel
35	chr11:65880200-65883600	Weak transcription	Left Ventricle	heart
36	chr11:65880200-65883600	Weak transcription	Lung	lung
37	chr11:65880200-65883600	Weak transcription	Pancreas	Pancrea
38	chr11:65880200-65885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:65880200-65885800	Weak transcription	Esophagus	oesophagus
40	chr11:65880400-65886400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:65880400-65886400	Enhancers	Hela-S3	cervix
42	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
43	chr11:65880600-65886400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:65880600-65894400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:65880800-65882800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:65880800-65883000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr11:65880800-65883000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:65881000-65882800	Weak transcription	K562	blood
49	chr11:65881000-65883000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:65881000-65883000	Weak transcription	Rectal Mucosa Donor 31	rectum

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