Variant report

Variant	rs11217866
Chromosome Location	chr11:120300804-120300805
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120106062..120108820-chr11:120297769..120301208,3	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

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

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

rs_ID	r²[population]
rs10790381	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10892565	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10892569	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10892575	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217843	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217857	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217874	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217875	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217878	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217887	0.82[ASN][1000 genomes]
rs11823264	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11824032	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12270397	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12785387	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12794618	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12807097	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17123861	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812974	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2276035	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4381380	0.92[ASN][1000 genomes]
rs4936517	0.82[ASN][1000 genomes]
rs4936518	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4938802	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4938803	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4938806	0.95[ASN][1000 genomes]
rs4938807	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56693116	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6589810	0.95[ASN][1000 genomes]
rs6589813	0.97[ASN][1000 genomes]
rs7101415	0.95[ASN][1000 genomes]
rs7107211	0.85[ASN][1000 genomes]
rs7115714	0.96[ASN][1000 genomes]
rs7129944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924772	0.91[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
2	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
5	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:120275600-120302600	Weak transcription	K562	blood
7	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
9	chr11:120276600-120302200	Weak transcription	Fetal Heart	heart
10	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:120285000-120302000	Weak transcription	HSMMtube	muscle
12	chr11:120285000-120302200	Weak transcription	Hela-S3	cervix
13	chr11:120285600-120319800	Weak transcription	Gastric	stomach
14	chr11:120288400-120305800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:120288600-120309600	Weak transcription	Aorta	Aorta
16	chr11:120289200-120302400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:120290000-120308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:120290800-120302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
22	chr11:120293000-120309000	Weak transcription	Fetal Stomach	stomach
23	chr11:120293200-120302600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
25	chr11:120295400-120312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:120295800-120302200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:120296000-120301400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:120296000-120301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:120296000-120302400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:120296000-120302400	Weak transcription	Pancreas	Pancrea
32	chr11:120296000-120302400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:120296000-120302400	Weak transcription	HMEC	breast
34	chr11:120296000-120302400	Weak transcription	NHLF	lung
35	chr11:120296000-120308400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:120296000-120309200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:120296000-120312400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:120296000-120315800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
40	chr11:120296000-120316400	Weak transcription	Lung	lung
41	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:120296200-120302400	Weak transcription	Brain Angular Gyrus	brain
43	chr11:120296200-120302400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:120296200-120302400	Weak transcription	Ovary	ovary
45	chr11:120296200-120302400	Weak transcription	Small Intestine	intestine
46	chr11:120296200-120302800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:120296200-120308400	Weak transcription	Adipose Nuclei	Adipose
48	chr11:120296200-120315400	Weak transcription	Fetal Brain Male	brain
49	chr11:120296400-120301600	Weak transcription	Left Ventricle	heart
50	chr11:120296400-120302400	Weak transcription	Primary B cells from peripheral blood	blood

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