Variant report

Variant	rs4987911
Chromosome Location	chr11:108107008-108107009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108105917..108107991-chr11:108115089..108117555,3	K562	blood:
2	chr11:108105026..108107991-chr11:108115213..108117724,3	K562	blood:
3	chr11:108092532..108097509-chr11:108106620..108109590,6	K562	blood:

Variant related genes	Relation type
ENSG00000149308	Chromatin interaction
ENSG00000149311	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11212489	1.00[AMR][1000 genomes]
rs11212497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212517	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11212521	0.83[ASN][1000 genomes]
rs11212522	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11212533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212536	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11212562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212567	1.00[AMR][1000 genomes]
rs11212571	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11212574	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11212576	1.00[AMR][1000 genomes]
rs11212582	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11518204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12365364	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12365932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234993	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3092910	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36076410	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4987901	1.00[AFR][1000 genomes]
rs4987947	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4988005	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4988007	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4988033	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4988047	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4988063	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58807621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61913704	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	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	chr11:108095400-108119800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:108095800-108119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:108095800-108122400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:108096000-108107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
11	chr11:108096400-108107800	Weak transcription	Psoas Muscle	Psoas
12	chr11:108096400-108156400	Weak transcription	NHLF	lung
13	chr11:108096600-108107800	Weak transcription	Fetal Brain Male	brain
14	chr11:108096600-108108600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:108096600-108121400	Weak transcription	Spleen	Spleen
16	chr11:108096600-108128400	Weak transcription	Pancreas	Pancrea
17	chr11:108097000-108129200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:108097800-108112000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:108098200-108108600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:108098200-108108800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:108098200-108112400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:108098400-108108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:108098400-108122400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:108098400-108131600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:108098800-108108800	Strong transcription	Liver	Liver
26	chr11:108099000-108108000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:108099000-108108600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:108099200-108108600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:108099200-108108600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:108099400-108108000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:108099800-108107800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:108099800-108119600	Weak transcription	NHDF-Ad	bronchial
33	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
34	chr11:108100400-108108000	Strong transcription	Left Ventricle	heart
35	chr11:108100600-108107800	Weak transcription	Brain Germinal Matrix	brain
36	chr11:108100600-108119200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:108100600-108128200	Weak transcription	K562	blood
38	chr11:108100800-108113400	Weak transcription	Aorta	Aorta
39	chr11:108101000-108110600	Weak transcription	Small Intestine	intestine
40	chr11:108101200-108128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:108101600-108130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:108101800-108107200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:108101800-108107200	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:108101800-108116200	Weak transcription	Ovary	ovary
45	chr11:108101800-108121400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:108102000-108107400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:108102200-108121400	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:108104000-108107400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr11:108104000-108109600	Weak transcription	HSMMtube	muscle
50	chr11:108104200-108111000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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