Variant report

Variant	rs73494120
Chromosome Location	chr11:63652021-63652022
allele	A/G
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	chr11:63651947-63652086	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63644143..63645756-chr11:63650897..63653554,2	MCF-7	breast:
2	chr11:63639014..63641483-chr11:63650269..63652057,2	MCF-7	breast:
3	chr11:63651375..63653899-chr11:63656306..63658749,2	K562	blood:

Variant related genes	Relation type
RNU6-1306P	TF binding region
MARK2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10897460	1.00[ASN][1000 genomes]
rs11231634	1.00[ASN][1000 genomes]
rs12099085	1.00[ASN][1000 genomes]
rs12271959	1.00[ASN][1000 genomes]
rs1392118	0.91[ASN][1000 genomes]
rs320110	1.00[ASN][1000 genomes]
rs320115	1.00[ASN][1000 genomes]
rs57219930	1.00[ASN][1000 genomes]
rs58678024	1.00[ASN][1000 genomes]
rs60791209	0.91[ASN][1000 genomes]
rs61141225	0.91[ASN][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63637800-63653200	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr11:63641000-63654800	Weak transcription	HepG2	liver
3	chr11:63642200-63654800	Weak transcription	Fetal Lung	lung
4	chr11:63642400-63654400	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:63642400-63655000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:63643600-63655800	Weak transcription	Aorta	Aorta
7	chr11:63643800-63652400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:63644600-63655200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:63645000-63652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:63645800-63654600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:63646400-63652200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr11:63646600-63652600	Enhancers	Fetal Thymus	thymus
13	chr11:63646800-63652200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:63646800-63652200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr11:63647600-63654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:63647600-63654400	Weak transcription	Liver	Liver
17	chr11:63648000-63654200	Weak transcription	A549	lung
18	chr11:63648000-63654400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:63648200-63653800	Weak transcription	K562	blood
20	chr11:63648200-63654400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:63648200-63654600	Weak transcription	HMEC	breast
22	chr11:63648200-63654800	Weak transcription	NHEK	skin
23	chr11:63648400-63652400	Enhancers	Brain Anterior Caudate	brain
24	chr11:63648400-63654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:63648400-63654400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:63648400-63654400	Weak transcription	Small Intestine	intestine
27	chr11:63648400-63654600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:63648400-63654600	Weak transcription	Osteobl	bone
29	chr11:63648400-63654800	Weak transcription	HSMM	muscle
30	chr11:63648400-63655000	Weak transcription	Hela-S3	cervix
31	chr11:63648400-63655000	Weak transcription	NH-A	brain
32	chr11:63648400-63655200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:63648600-63655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:63649200-63654400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:63649800-63652200	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:63650000-63652200	Enhancers	Adipose Nuclei	Adipose
37	chr11:63650000-63652200	Enhancers	Fetal Brain Male	brain
38	chr11:63650200-63652200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:63650200-63652400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:63650200-63652400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:63650200-63652400	Enhancers	Brain Substantia Nigra	brain
42	chr11:63650200-63652600	Enhancers	Stomach Mucosa	stomach
43	chr11:63650400-63652200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:63650400-63652400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:63650400-63653000	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:63650400-63653800	Strong transcription	Fetal Stomach	stomach
47	chr11:63650600-63652200	Enhancers	Fetal Brain Female	brain
48	chr11:63650600-63654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:63650600-63655600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:63650800-63652400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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