Variant report

Variant	rs73492260
Chromosome Location	chr11:63586181-63586182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63586092-63586589	K562	blood:	n/a	n/a
2	POLR2A	chr11:63586085-63586504	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:63585973-63586464	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:63586171-63586221	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63585113..63586704-chr11:63741923..63744002,2	MCF-7	breast:
2	chr11:63535590..63537125-chr11:63584534..63586620,2	MCF-7	breast:
3	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:

Variant related genes	Relation type
C11orf84	TF binding region
ENSG00000176340	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000256100	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11825727	1.00[AMR][1000 genomes]
rs57058815	1.00[AMR][1000 genomes]
rs58822345	1.00[AMR][1000 genomes]
rs59054123	1.00[AMR][1000 genomes]
rs59146342	1.00[AMR][1000 genomes]
rs60725842	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61184552	1.00[AMR][1000 genomes]
rs7125886	1.00[AMR][1000 genomes]
rs73492262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492287	1.00[AMR][1000 genomes]
rs73492297	1.00[AMR][1000 genomes]
rs73494110	1.00[AMR][1000 genomes]
rs73494112	1.00[AMR][1000 genomes]
rs73494126	1.00[AMR][1000 genomes]
rs73494128	1.00[AMR][1000 genomes]
rs73494144	1.00[AMR][1000 genomes]
rs73494160	1.00[AMR][1000 genomes]
rs73494167	1.00[AMR][1000 genomes]
rs73494181	1.00[AMR][1000 genomes]
rs73496034	1.00[AMR][1000 genomes]
rs73496075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496090	1.00[AMR][1000 genomes]
rs73496096	1.00[AMR][1000 genomes]
rs73496099	1.00[AMR][1000 genomes]
rs73496100	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63582200-63587200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:63582200-63604600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:63582400-63587200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:63582400-63588800	Weak transcription	Small Intestine	intestine
5	chr11:63582400-63604800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:63582600-63587400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:63582600-63592200	Weak transcription	Stomach Mucosa	stomach
8	chr11:63582600-63604800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:63582600-63604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:63582800-63586400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:63582800-63588400	Weak transcription	Liver	Liver
12	chr11:63582800-63591800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:63582800-63593600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:63582800-63595800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:63582800-63596400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:63583000-63588600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:63583000-63591000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr11:63583000-63592600	Weak transcription	Psoas Muscle	Psoas
19	chr11:63583000-63594400	Strong transcription	HSMM	muscle
20	chr11:63583000-63594600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:63583000-63595400	Strong transcription	Thymus	Thymus
22	chr11:63583000-63596200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:63583000-63596400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:63583000-63596800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:63583000-63597000	Strong transcription	Brain Cingulate Gyrus	brain
26	chr11:63583000-63597200	Strong transcription	Fetal Muscle Leg	muscle
27	chr11:63583200-63588800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:63583200-63594800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:63583200-63595000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:63583200-63595400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr11:63583200-63596200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:63583200-63596200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:63583200-63596200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:63583200-63596400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:63583200-63597200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:63583400-63594600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr11:63583400-63594800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:63583400-63596400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:63583400-63596400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:63583400-63596400	Strong transcription	Fetal Intestine Small	intestine
41	chr11:63583600-63586400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:63583600-63586400	Strong transcription	HMEC	breast
43	chr11:63583600-63586400	Strong transcription	NH-A	brain
44	chr11:63583600-63587600	Strong transcription	NHEK	skin
45	chr11:63583600-63587800	Strong transcription	Brain Angular Gyrus	brain
46	chr11:63583600-63590600	Strong transcription	Fetal Lung	lung
47	chr11:63583600-63592200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:63583600-63592200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:63583600-63594800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr11:63583600-63595000	Strong transcription	H9 Cell Line	embryonic stem cell

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