Variant report

Variant	rs73495050
Chromosome Location	chr11:64843612-64843613
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64667954..64670193-chr11:64843590..64845831,2	K562	blood:
2	chr11:64807338..64809955-chr11:64842641..64845959,3	K562	blood:
3	chr11:64795265..64796796-chr11:64842573..64844398,2	K562	blood:
4	chr11:64807394..64809869-chr11:64843562..64845185,2	K562	blood:
5	chr11:64842533..64844120-chr11:64877968..64880933,2	K562	blood:

Variant related genes	Relation type
ENSG00000254501	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11231892	1.00[EUR][1000 genomes]
rs11819994	1.00[EUR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826724	1.00[EUR][1000 genomes]
rs11828131	1.00[EUR][1000 genomes]
rs17145206	1.00[EUR][1000 genomes]
rs17146681	1.00[EUR][1000 genomes]
rs17882241	1.00[EUR][1000 genomes]
rs17883601	1.00[EUR][1000 genomes]
rs17884528	1.00[EUR][1000 genomes]
rs17885792	1.00[EUR][1000 genomes]
rs17886339	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58009266	1.00[EUR][1000 genomes]
rs58306239	1.00[EUR][1000 genomes]
rs60034183	1.00[EUR][1000 genomes]
rs60169759	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	1.00[EUR][1000 genomes]
rs61202604	1.00[EUR][1000 genomes]
rs61231480	1.00[EUR][1000 genomes]
rs61746813	1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[EUR][1000 genomes]
rs73474781	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	1.00[EUR][1000 genomes]
rs73477223	1.00[EUR][1000 genomes]
rs73477224	1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73480916	1.00[EUR][1000 genomes]
rs73480917	1.00[EUR][1000 genomes]
rs73480936	1.00[EUR][1000 genomes]
rs73480948	1.00[EUR][1000 genomes]
rs73481122	1.00[EUR][1000 genomes]
rs73495054	1.00[EUR][1000 genomes]
rs73495060	1.00[EUR][1000 genomes]
rs73496391	1.00[EUR][1000 genomes]
rs769438	1.00[EUR][1000 genomes]
rs769439	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS 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	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS 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	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64822400-64850800	Weak transcription	Esophagus	oesophagus
2	chr11:64833600-64845600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:64834200-64850600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:64834400-64845000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:64834600-64846200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:64834800-64844800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:64834800-64845000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:64834800-64847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:64835200-64844000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:64835400-64845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:64837200-64844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:64837400-64843800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:64837400-64844800	Weak transcription	Hela-S3	cervix
14	chr11:64837400-64848000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:64837600-64845000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:64837600-64845600	Weak transcription	Fetal Intestine Large	intestine
17	chr11:64837800-64845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:64837800-64845400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:64837800-64846800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:64837800-64850800	Weak transcription	Pancreas	Pancrea
21	chr11:64838000-64844200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:64839000-64844000	Weak transcription	NHLF	lung
23	chr11:64839800-64847800	Weak transcription	HSMM	muscle
24	chr11:64840200-64845000	Weak transcription	GM12878-XiMat	blood
25	chr11:64840200-64845600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:64840200-64850800	Weak transcription	Spleen	Spleen
27	chr11:64840800-64845000	Weak transcription	HepG2	liver
28	chr11:64841200-64845200	Weak transcription	HMEC	breast
29	chr11:64841400-64844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:64841400-64846600	Weak transcription	Fetal Brain Female	brain
31	chr11:64841400-64848400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:64841600-64843800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:64841600-64844000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:64841600-64846000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:64842200-64845200	Weak transcription	Brain Germinal Matrix	brain
36	chr11:64842200-64847800	Weak transcription	HUVEC	blood vessel
37	chr11:64842800-64845600	Weak transcription	NH-A	brain
38	chr11:64842800-64846200	Weak transcription	Placenta	Placenta
39	chr11:64842800-64850200	Weak transcription	Fetal Lung	lung
40	chr11:64843000-64844200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:64843000-64849800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:64843000-64849800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:64843000-64849800	Strong transcription	Thymus	Thymus
44	chr11:64843000-64850000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:64843000-64850200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:64843000-64850200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:64843200-64843800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:64843200-64844600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:64843200-64845000	Strong transcription	Dnd41	blood
50	chr11:64843200-64845200	Strong transcription	A549	lung

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