Variant report

Variant	rs73484340
Chromosome Location	chr11:65138766-65138767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65120200..65124762-chr11:65137266..65140322,4	K562	blood:
2	chr11:65138209..65140273-chr11:65239128..65241917,2	K562	blood:
3	chr11:65133831..65136816-chr11:65137067..65139974,2	MCF-7	breast:
4	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
5	chr11:65136235..65138835-chr11:65243265..65245007,3	K562	blood:

Variant related genes	Relation type
ENSG00000255478	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 53 )
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	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647583	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647585	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647598	0.81[AFR][1000 genomes];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	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482257	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482268	0.81[AFR][1000 genomes];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]
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:6 , 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	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
3	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
4	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
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65123400-65143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:65123600-65143800	Weak transcription	Thymus	Thymus
3	chr11:65127200-65141400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:65127200-65143800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:65127600-65139200	Weak transcription	Left Ventricle	heart
6	chr11:65130400-65142600	Weak transcription	Primary T cells from cord blood	blood
7	chr11:65132000-65140800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:65134200-65144400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:65134200-65144600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:65134200-65144800	Weak transcription	Spleen	Spleen
11	chr11:65134200-65145400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:65134200-65146400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:65134200-65147200	Weak transcription	Fetal Thymus	thymus
14	chr11:65134200-65149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:65134400-65142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:65134400-65142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:65134400-65144800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:65134400-65145400	Weak transcription	Placenta	Placenta
19	chr11:65134400-65149400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:65134600-65142600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:65134600-65145200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:65135600-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:65136800-65142000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:65137400-65138800	Enhancers	Pancreas	Pancrea
25	chr11:65137600-65138800	Enhancers	Lung	lung
26	chr11:65137600-65138800	Enhancers	Psoas Muscle	Psoas
27	chr11:65137600-65138800	Enhancers	Right Ventricle	heart
28	chr11:65137600-65139400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:65137600-65139400	Enhancers	Fetal Intestine Small	intestine
30	chr11:65137800-65139600	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:65137800-65140000	Enhancers	HSMM	muscle
32	chr11:65138000-65140400	Enhancers	Fetal Muscle Leg	muscle
33	chr11:65138200-65139000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:65138200-65139000	Flanking Active TSS	Hela-S3	cervix
35	chr11:65138200-65139200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:65138200-65139200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:65138200-65139200	Enhancers	HSMMtube	muscle
38	chr11:65138200-65139200	Enhancers	HUVEC	blood vessel
39	chr11:65138200-65139200	Enhancers	NH-A	brain
40	chr11:65138200-65139200	Enhancers	Osteobl	bone
41	chr11:65138200-65139400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:65138200-65139400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:65138200-65139600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:65138200-65139800	Enhancers	Fetal Intestine Large	intestine
45	chr11:65138200-65140000	Enhancers	Stomach Mucosa	stomach
46	chr11:65138200-65140400	Enhancers	Fetal Heart	heart
47	chr11:65138200-65146200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:65138400-65138800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:65138400-65138800	Enhancers	Aorta	Aorta
50	chr11:65138400-65139000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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