Variant report

Variant	rs73494112
Chromosome Location	chr11:63644317-63644318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63640265..63644644-chr11:63645471..63647891,3	MCF-7	breast:
2	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
3	chr11:63643541..63645532-chr11:63647100..63648960,2	K562	blood:
4	chr11:63644143..63645756-chr11:63650897..63653554,2	MCF-7	breast:
5	chr11:63618627..63621390-chr11:63642478..63644559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 34 )
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	1.00[AMR][1000 genomes]
rs61184552	1.00[AMR][1000 genomes]
rs7125886	1.00[AMR][1000 genomes]
rs73492260	1.00[AMR][1000 genomes]
rs73492262	1.00[AMR][1000 genomes]
rs73492266	1.00[AMR][1000 genomes]
rs73492273	1.00[AMR][1000 genomes]
rs73492274	1.00[AMR][1000 genomes]
rs73492287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494126	1.00[AMR][1000 genomes]
rs73494128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494160	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494167	1.00[AMR][1000 genomes]
rs73494181	1.00[AMR][1000 genomes]
rs73496034	1.00[AMR][1000 genomes]
rs73496075	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:6 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63633000-63646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:63633000-63646800	Weak transcription	Fetal Brain Female	brain
3	chr11:63633200-63644800	Enhancers	Brain Substantia Nigra	brain
4	chr11:63636000-63644800	Enhancers	Brain Angular Gyrus	brain
5	chr11:63637600-63647000	Strong transcription	Dnd41	blood
6	chr11:63637800-63653200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr11:63639400-63645600	Enhancers	Right Atrium	heart
8	chr11:63640000-63644600	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:63640000-63645200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:63640000-63647800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:63640200-63645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:63640200-63645200	Weak transcription	Brain Germinal Matrix	brain
13	chr11:63640200-63645600	Enhancers	Left Ventricle	heart
14	chr11:63640200-63646200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:63640200-63646400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:63640200-63647000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:63640200-63647000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:63640200-63647000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:63640200-63647000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:63640200-63647000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:63640200-63647000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:63640200-63647000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:63640200-63647000	Weak transcription	NH-A	brain
24	chr11:63640600-63647000	Weak transcription	Fetal Brain Male	brain
25	chr11:63640800-63644400	Strong transcription	Hela-S3	cervix
26	chr11:63640800-63645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:63640800-63645200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:63640800-63645200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:63640800-63645600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:63640800-63646800	Weak transcription	A549	lung
31	chr11:63640800-63647400	Weak transcription	Fetal Kidney	kidney
32	chr11:63641000-63646200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:63641000-63646200	Weak transcription	NHDF-Ad	bronchial
34	chr11:63641000-63646200	Weak transcription	Osteobl	bone
35	chr11:63641000-63654800	Weak transcription	HepG2	liver
36	chr11:63641200-63645200	Weak transcription	HMEC	breast
37	chr11:63641200-63646800	Weak transcription	HSMMtube	muscle
38	chr11:63641400-63647000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:63641400-63647000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:63641400-63647200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:63641600-63644400	Strong transcription	GM12878-XiMat	blood
42	chr11:63641600-63646400	Weak transcription	NHLF	lung
43	chr11:63641600-63646800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:63641800-63645000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr11:63641800-63646200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:63642000-63645400	Enhancers	Fetal Heart	heart
47	chr11:63642000-63646800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:63642200-63645400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:63642200-63645400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:63642200-63646800	Weak transcription	Small Intestine	intestine

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