Variant report

Variant	rs228595
Chromosome Location	chr11:108105593-108105594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108093607..108098073-chr11:108103597..108106614,4	K562	blood:
2	chr11:108105026..108107991-chr11:108115213..108117724,3	K562	blood:

Variant related genes	Relation type
ENSG00000149311	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs172927	0.90[ASN][1000 genomes]
rs189037	0.85[ASN][1000 genomes]
rs227069	0.82[AMR][1000 genomes]
rs228590	0.82[ASN][1000 genomes]
rs228591	0.83[ASN][1000 genomes]
rs228592	0.83[ASN][1000 genomes]
rs228594	0.81[ASN][1000 genomes]
rs228596	0.92[ASN][1000 genomes]
rs228597	0.85[ASN][1000 genomes]
rs228598	0.85[ASN][1000 genomes]
rs228599	0.81[ASN][1000 genomes]
rs228606	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs599406	0.83[ASN][1000 genomes]
rs600691	0.90[ASN][1000 genomes]
rs600931	0.83[ASN][1000 genomes]
rs611646	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs623860	0.81[ASN][1000 genomes]
rs624888	0.85[ASN][1000 genomes]
rs625120	0.83[ASN][1000 genomes]
rs641605	0.83[ASN][1000 genomes]
rs651030	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs672655	0.90[ASN][1000 genomes]
rs672964	0.89[ASN][1000 genomes]
rs694799	0.83[ASN][1000 genomes]
rs7129527	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7932972	0.81[ASN][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	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv556431	chr11:108098142-108115587	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv556432	chr11:108098563-108115539	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094600-108121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108094800-108116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
4	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:108095000-108121400	Weak transcription	Colonic Mucosa	Colon
6	chr11:108095200-108106800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:108095400-108119800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:108095800-108119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:108095800-108122400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:108096000-108107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
12	chr11:108096200-108106600	Weak transcription	A549	lung
13	chr11:108096400-108107800	Weak transcription	Psoas Muscle	Psoas
14	chr11:108096400-108156400	Weak transcription	NHLF	lung
15	chr11:108096600-108107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:108096600-108107800	Weak transcription	Fetal Brain Male	brain
17	chr11:108096600-108108600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:108096600-108121400	Weak transcription	Spleen	Spleen
19	chr11:108096600-108128400	Weak transcription	Pancreas	Pancrea
20	chr11:108097000-108129200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:108097200-108105600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:108097800-108107000	Weak transcription	Thymus	Thymus
23	chr11:108097800-108112000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:108098000-108106000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr11:108098200-108108600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:108098200-108108800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:108098200-108112400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:108098400-108108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:108098400-108122400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:108098400-108131600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:108098800-108108800	Strong transcription	Liver	Liver
32	chr11:108099000-108105600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:108099000-108108000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:108099000-108108600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:108099200-108108600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:108099200-108108600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:108099400-108108000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:108099800-108105600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr11:108099800-108107000	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr11:108099800-108107800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:108099800-108119600	Weak transcription	NHDF-Ad	bronchial
42	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
43	chr11:108100000-108106400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:108100400-108106200	Strong transcription	Fetal Stomach	stomach
45	chr11:108100400-108108000	Strong transcription	Left Ventricle	heart
46	chr11:108100600-108107800	Weak transcription	Brain Germinal Matrix	brain
47	chr11:108100600-108119200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:108100600-108128200	Weak transcription	K562	blood
49	chr11:108100800-108105600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:108100800-108106600	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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