Variant report

Variant	rs569031
Chromosome Location	chr11:59554777-59554778
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59545569..59549686-chr11:59550109..59554900,5	MCF-7	breast:
2	chr11:59520935..59525781-chr11:59552803..59557885,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234964	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000254477	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1144728	1.00[YRI][hapmap]
rs2509731	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs477945	1.00[AFR][1000 genomes]
rs478935	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs491671	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs493567	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs504954	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs515974	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs538323	1.00[AFR][1000 genomes]
rs539537	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs547093	1.00[AFR][1000 genomes]
rs554598	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046086	chr11:59520424-59561455	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59524400-59557000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:59524600-59557400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:59524600-59573800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:59524800-59555400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:59525600-59557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:59534400-59559600	Weak transcription	Fetal Brain Female	brain
7	chr11:59534600-59571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:59537600-59570400	Weak transcription	Fetal Kidney	kidney
9	chr11:59540800-59556200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr11:59540800-59559600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:59541000-59560000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:59541000-59573600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:59541800-59559200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:59542200-59571400	Weak transcription	Thymus	Thymus
15	chr11:59542800-59557800	Weak transcription	Fetal Stomach	stomach
16	chr11:59543200-59557000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:59543200-59559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:59544400-59573200	Weak transcription	Psoas Muscle	Psoas
19	chr11:59546000-59556600	Weak transcription	Brain Angular Gyrus	brain
20	chr11:59546000-59557800	Weak transcription	Brain Anterior Caudate	brain
21	chr11:59546000-59560800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:59546400-59568800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:59548200-59554800	Weak transcription	Aorta	Aorta
24	chr11:59548200-59555400	Weak transcription	Primary B cells from cord blood	blood
25	chr11:59548400-59556200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:59551400-59572800	Weak transcription	Dnd41	blood
27	chr11:59551600-59573600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:59551600-59576600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:59551600-59577200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:59552000-59573000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:59552400-59555000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:59552800-59555600	Genic enhancers	Fetal Intestine Small	intestine
33	chr11:59553000-59555200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr11:59553200-59554800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:59553200-59555600	Enhancers	Stomach Mucosa	stomach
36	chr11:59553200-59556000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:59553400-59554800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:59553400-59554800	Enhancers	NHEK	skin
39	chr11:59553400-59555000	Enhancers	Hela-S3	cervix
40	chr11:59553400-59555200	Enhancers	HepG2	liver
41	chr11:59553400-59555400	Enhancers	HMEC	breast
42	chr11:59553600-59554800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:59553600-59555000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:59553800-59555000	Enhancers	Colonic Mucosa	Colon
45	chr11:59553800-59555800	Enhancers	NHDF-Ad	bronchial
46	chr11:59553800-59556400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:59554000-59554800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:59554000-59554800	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:59554000-59555000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:59554000-59555000	Flanking Active TSS	A549	lung

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