Variant report

Variant	rs12277386
Chromosome Location	chr11:63713698-63713699
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63708705..63711538-chr11:63713648..63715559,2	K562	blood:
2	chr11:63683788..63684663-chr11:63713012..63713983,3	MCF-7	breast:
3	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
4	chr11:63604405..63605358-chr11:63712971..63713992,6	K562	blood:
5	chr11:63679817..63682054-chr11:63713391..63715427,2	MCF-7	breast:
6	chr11:63713605..63716362-chr11:63716761..63720245,3	K562	blood:
7	chr11:63709555..63711338-chr11:63713486..63715543,2	MCF-7	breast:
8	chr11:63535418..63536418-chr11:63713464..63714128,3	K562	blood:
9	chr11:63512721..63513749-chr11:63712605..63713796,3	MCF-7	breast:
10	chr11:63712151..63714978-chr11:63752248..63754050,2	K562	blood:
11	chr11:63682858..63685313-chr11:63711192..63714152,2	MCF-7	breast:
12	chr11:63712054..63714315-chr11:65194541..65196284,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000255651	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10897460	1.00[EUR][1000 genomes]
rs11231632	1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes]
rs11231665	1.00[AMR][1000 genomes]
rs11231673	1.00[AMR][1000 genomes]
rs11494059	0.83[AMR][1000 genomes]
rs12099085	1.00[EUR][1000 genomes]
rs12271959	1.00[EUR][1000 genomes]
rs12277838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285283	1.00[AMR][1000 genomes]
rs12288290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291042	1.00[EUR][1000 genomes]
rs12295918	1.00[EUR][1000 genomes]
rs13377315	1.00[EUR][1000 genomes]
rs17403349	1.00[AMR][1000 genomes]
rs320110	1.00[EUR][1000 genomes]
rs34689425	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56217591	1.00[AMR][1000 genomes]
rs57219930	1.00[EUR][1000 genomes]
rs57864399	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57868637	1.00[AMR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes]
rs59423787	1.00[EUR][1000 genomes]
rs59502039	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59642000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60107756	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61475860	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61653882	1.00[AMR][1000 genomes]
rs7110433	1.00[EUR][1000 genomes]
rs7929867	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938631	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948681	1.00[EUR][1000 genomes]
rs7952003	1.00[EUR][1000 genomes]
rs9326430	1.00[AMR][1000 genomes]
rs9630214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	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
3	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
4	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
5	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
6	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
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63707400-63713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:63707400-63713800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:63707400-63719600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:63707400-63721400	Weak transcription	Small Intestine	intestine
6	chr11:63707600-63713800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:63707600-63713800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:63707600-63719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:63707600-63720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:63707800-63719200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:63707800-63719600	Weak transcription	Lung	lung
12	chr11:63708000-63713800	Weak transcription	HMEC	breast
13	chr11:63708000-63713800	Weak transcription	HUVEC	blood vessel
14	chr11:63708000-63714000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:63708000-63714000	Weak transcription	Gastric	stomach
16	chr11:63708000-63718200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:63708200-63713800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:63708200-63723400	Weak transcription	NH-A	brain
19	chr11:63708400-63713800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:63708800-63713800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:63709000-63713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:63709000-63714000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:63709000-63719200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:63709400-63718800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:63709600-63719600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:63709800-63718200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:63710600-63715400	Strong transcription	Primary T cells from cord blood	blood
28	chr11:63712000-63714200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:63712000-63716800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:63712400-63714400	Genic enhancers	Hela-S3	cervix
31	chr11:63712400-63717600	Strong transcription	Dnd41	blood
32	chr11:63712600-63716400	Strong transcription	Thymus	Thymus
33	chr11:63712600-63717000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:63713000-63717200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:63713200-63714600	Strong transcription	NHEK	skin
36	chr11:63713200-63716800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:63713200-63718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:63713200-63719800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:63713200-63719800	Weak transcription	Aorta	Aorta
40	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
41	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:63713400-63713800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:63713400-63713800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:63713400-63713800	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr11:63713400-63713800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:63713400-63713800	Weak transcription	Brain Angular Gyrus	brain
47	chr11:63713400-63713800	Genic enhancers	Brain Anterior Caudate	brain
48	chr11:63713400-63713800	Genic enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:63713400-63713800	Weak transcription	Esophagus	oesophagus
50	chr11:63713400-63713800	Weak transcription	Left Ventricle	heart

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