Variant report

Variant	rs73482250
Chromosome Location	chr11:65099195-65099196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65098999-65099703	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65098911..65102850-chr11:65147012..65151675,4	MCF-7	breast:
2	chr11:65096087..65101158-chr11:65187507..65191685,6	K562	blood:
3	chr11:65092980..65094562-chr11:65096918..65099257,2	MCF-7	breast:
4	chr11:65096087..65099214-chr11:65189318..65191685,3	K562	blood:
5	chr11:65097195..65099678-chr11:65099685..65101398,2	K562	blood:
6	chr11:65098368..65100448-chr11:65187507..65189022,2	K562	blood:
7	chr11:65040873..65044246-chr11:65095281..65099603,5	K562	blood:
8	chr11:65082396..65084824-chr11:65098924..65101432,3	MCF-7	breast:

No data

Variant related genes	Relation type
DPF2	TF binding region
ENSG00000162241	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000133884	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[EUR][1000 genomes]
rs4149824	1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[EUR][1000 genomes]
rs59646878	1.00[EUR][1000 genomes]
rs60315122	1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	1.00[EUR][1000 genomes]
rs73482959	1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[EUR][1000 genomes]
rs73484954	1.00[EUR][1000 genomes]
rs73484963	1.00[EUR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65085000-65100800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:65085200-65101000	Weak transcription	Fetal Kidney	kidney
3	chr11:65085800-65101000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:65088800-65101000	Weak transcription	Right Atrium	heart
5	chr11:65089200-65101000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:65089400-65101200	Weak transcription	Small Intestine	intestine
7	chr11:65089800-65100800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:65089800-65101000	Weak transcription	Liver	Liver
9	chr11:65089800-65101000	Weak transcription	Esophagus	oesophagus
10	chr11:65090000-65101000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:65090000-65101000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:65090000-65101000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:65090200-65100800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:65090200-65100800	Weak transcription	Colonic Mucosa	Colon
15	chr11:65090200-65101000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:65090200-65101000	Weak transcription	Fetal Lung	lung
17	chr11:65090200-65101000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:65090400-65101000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:65090400-65101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:65090400-65101000	Weak transcription	Left Ventricle	heart
21	chr11:65090400-65101000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:65090400-65101000	Weak transcription	HSMM	muscle
23	chr11:65090600-65101000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:65091800-65101000	Weak transcription	HSMMtube	muscle
25	chr11:65094200-65100800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:65096200-65099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:65096200-65100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:65096200-65101000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:65097200-65101000	Weak transcription	Fetal Brain Male	brain
30	chr11:65097400-65100800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:65097400-65100800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:65097400-65100800	Weak transcription	Osteobl	bone
33	chr11:65097400-65101000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:65097400-65101000	Weak transcription	NHLF	lung
35	chr11:65097600-65100600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:65097600-65100800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:65097600-65100800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:65097600-65100800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:65097600-65100800	Weak transcription	Fetal Brain Female	brain
40	chr11:65097600-65100800	Weak transcription	Fetal Intestine Large	intestine
41	chr11:65097600-65100800	Weak transcription	Fetal Stomach	stomach
42	chr11:65097600-65100800	Weak transcription	Hela-S3	cervix
43	chr11:65097600-65101000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:65097600-65101000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:65097600-65101000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:65097600-65101000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:65097600-65101000	Weak transcription	Brain Angular Gyrus	brain
48	chr11:65097600-65101000	Weak transcription	Brain Anterior Caudate	brain
49	chr11:65097600-65101000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:65097600-65101000	Weak transcription	Brain Inferior Temporal Lobe	brain

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