Variant report

Variant	rs56129264
Chromosome Location	chr11:94543482-94543483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94540329..94541896-chr11:94543208..94545041,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRE11A-4	chr11:94538354-94543617	ucscGeneNc_uc001pfj_2

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10831260	1.00[EUR][1000 genomes]
rs11020882	1.00[EUR][1000 genomes]
rs11020883	1.00[EUR][1000 genomes]
rs11020908	1.00[EUR][1000 genomes]
rs11822848	1.00[EUR][1000 genomes]
rs11824118	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279532	1.00[EUR][1000 genomes]
rs12280828	1.00[EUR][1000 genomes]
rs12283173	1.00[EUR][1000 genomes]
rs12289001	1.00[EUR][1000 genomes]
rs12292410	1.00[EUR][1000 genomes]
rs12295478	1.00[EUR][1000 genomes]
rs16920778	1.00[EUR][1000 genomes]
rs16920838	1.00[EUR][1000 genomes]
rs16921041	1.00[EUR][1000 genomes]
rs16921045	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16921099	1.00[EUR][1000 genomes]
rs1940641	1.00[EUR][1000 genomes]
rs4382867	1.00[EUR][1000 genomes]
rs57727006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60199624	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61356209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104173	1.00[EUR][1000 genomes]
rs7111545	1.00[EUR][1000 genomes]
rs7112716	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7350531	1.00[EUR][1000 genomes]
rs7936338	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832234	chr11:94462190-94611845	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv898186	chr11:94463093-94611845	Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94526800-94547400	Weak transcription	Fetal Brain Male	brain
2	chr11:94528000-94546400	Weak transcription	Small Intestine	intestine
3	chr11:94528200-94544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:94528200-94544800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:94528200-94546000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:94528400-94546200	Weak transcription	A549	lung
7	chr11:94531000-94546200	Weak transcription	Hela-S3	cervix
8	chr11:94531200-94555600	Weak transcription	K562	blood
9	chr11:94533200-94545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:94533600-94546200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:94534200-94546600	Weak transcription	HUVEC	blood vessel
12	chr11:94534400-94546400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:94534800-94547800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:94535400-94545200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:94536000-94546200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:94536000-94546600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:94536200-94546200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:94536200-94546400	Weak transcription	Lung	lung
19	chr11:94536200-94555000	Weak transcription	Brain Substantia Nigra	brain
20	chr11:94536200-94557800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:94536400-94552400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:94536600-94545000	Weak transcription	Fetal Lung	lung
23	chr11:94536600-94545200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:94536600-94546200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:94536600-94546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:94536600-94546200	Weak transcription	Thymus	Thymus
27	chr11:94536600-94546400	Weak transcription	Fetal Intestine Large	intestine
28	chr11:94536600-94546400	Weak transcription	Spleen	Spleen
29	chr11:94536600-94546600	Weak transcription	Esophagus	oesophagus
30	chr11:94536600-94547400	Weak transcription	Fetal Intestine Small	intestine
31	chr11:94536800-94546600	Enhancers	NHDF-Ad	bronchial
32	chr11:94537600-94546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:94538600-94546200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:94538600-94546400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:94539600-94546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:94539600-94546400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:94539600-94558200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:94539800-94544800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:94539800-94545000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:94539800-94545200	Weak transcription	Fetal Brain Female	brain
41	chr11:94539800-94546200	Weak transcription	Brain Germinal Matrix	brain
42	chr11:94539800-94546200	Weak transcription	Fetal Thymus	thymus
43	chr11:94539800-94546400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:94539800-94546600	Weak transcription	Aorta	Aorta
45	chr11:94539800-94553400	Weak transcription	Ovary	ovary
46	chr11:94540000-94544400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:94540000-94546200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:94540000-94546200	Weak transcription	Adipose Nuclei	Adipose
49	chr11:94540000-94546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:94540000-94567800	Weak transcription	Brain Angular Gyrus	brain

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