Variant report

Variant	rs161053
Chromosome Location	chr11:63674926-63674927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63605250..63607360-chr11:63674214..63677570,3	MCF-7	breast:
2	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
3	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
4	chr11:63674177..63676175-chr11:63676425..63679947,3	K562	blood:
5	chr11:63655944..63659317-chr11:63674342..63677172,3	K562	blood:
6	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
7	chr11:63604465..63605390-chr11:63673837..63675145,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167771	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10897461	1.00[AMR][1000 genomes]
rs1211783	1.00[YRI][hapmap]
rs224174	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs2875719	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320127	1.00[ASW][hapmap]
rs368421	0.82[YRI][hapmap]
rs4472946	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs497037	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap]
rs4980510	1.00[ASW][hapmap]
rs576548	0.85[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
10	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv897635	chr11:63674926-63688693	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63657400-63677800	Strong transcription	Dnd41	blood
2	chr11:63658800-63678400	Strong transcription	Primary B cells from cord blood	blood
3	chr11:63659400-63678600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:63659600-63680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:63659800-63678000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
7	chr11:63660800-63678000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr11:63661000-63677800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:63661000-63678000	Strong transcription	Liver	Liver
10	chr11:63661200-63678600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:63661400-63675800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr11:63661600-63677400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:63661600-63678000	Strong transcription	Thymus	Thymus
14	chr11:63661600-63678000	Strong transcription	NHEK	skin
15	chr11:63662200-63677400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:63662400-63675400	Strong transcription	Rectal Smooth Muscle	rectum
17	chr11:63662400-63675600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:63662400-63675800	Strong transcription	NHLF	lung
19	chr11:63662400-63677800	Strong transcription	Esophagus	oesophagus
20	chr11:63662400-63679200	Strong transcription	Colonic Mucosa	Colon
21	chr11:63662400-63679200	Strong transcription	Gastric	stomach
22	chr11:63662600-63675000	Strong transcription	Colon Smooth Muscle	Colon
23	chr11:63662600-63675600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:63662800-63676200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:63663600-63676600	Strong transcription	Aorta	Aorta
26	chr11:63664000-63675400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:63664000-63676000	Weak transcription	Right Atrium	heart
28	chr11:63664000-63676800	Strong transcription	HMEC	breast
29	chr11:63664000-63677400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:63664000-63678600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:63664200-63675200	Strong transcription	Adipose Nuclei	Adipose
32	chr11:63664200-63677600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:63664200-63678400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:63664200-63679200	Strong transcription	Primary T cells from cord blood	blood
35	chr11:63664400-63676800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:63664400-63678800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:63664400-63679200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:63664600-63680400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:63665000-63676000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:63665600-63675400	Strong transcription	Left Ventricle	heart
41	chr11:63665800-63676000	Strong transcription	Brain Germinal Matrix	brain
42	chr11:63666000-63675400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:63666400-63677800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:63669600-63683200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:63670000-63683200	Weak transcription	K562	blood
46	chr11:63670000-63683400	Weak transcription	HSMM	muscle
47	chr11:63670600-63676000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:63670800-63676400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:63670800-63681600	Weak transcription	GM12878-XiMat	blood
50	chr11:63671000-63675800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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