Variant report

Variant	rs55989000
Chromosome Location	chr11:9276864-9276865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9276841..9278348-chr11:9384168..9386134,2	K562	blood:
2	chr11:9267583..9270132-chr11:9274385..9279675,6	K562	blood:
3	chr11:9271547..9273883-chr11:9276776..9278420,2	K562	blood:
4	chr11:9203394..9206265-chr11:9276047..9277871,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11042260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042282	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11042294	0.87[AMR][1000 genomes]
rs1136330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11600093	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11600994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11601190	0.90[EUR][1000 genomes]
rs11601229	0.93[EUR][1000 genomes]
rs11601340	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11601383	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11601789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11603759	0.86[AMR][1000 genomes]
rs11604054	0.89[EUR][1000 genomes]
rs11604121	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11604607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11605358	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11605674	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11606260	0.82[EUR][1000 genomes]
rs11606740	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11606969	0.90[EUR][1000 genomes]
rs11607790	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11608223	1.00[AFR][1000 genomes]
rs16906708	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35347227	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs36005639	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4351820	0.89[EUR][1000 genomes]
rs4622264	0.86[EUR][1000 genomes]
rs4910036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910039	1.00[AMR][1000 genomes]
rs4910449	1.00[AFR][1000 genomes]
rs4910450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4910456	1.00[AFR][1000 genomes]
rs55640358	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55723890	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55741313	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55793943	0.93[AMR][1000 genomes]
rs55980718	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55994936	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56002897	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56065481	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56081129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56292930	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7394938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7395168	0.89[EUR][1000 genomes]
rs7395453	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7395754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396336	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7396512	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9215	0.89[EUR][1000 genomes]
rs956516	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9254400-9280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9262400-9282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:9264000-9283400	Weak transcription	Fetal Lung	lung
8	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:9265200-9279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:9265600-9284600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:9269400-9280000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:9270200-9282000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:9271800-9280200	Weak transcription	HSMM	muscle
17	chr11:9272000-9278000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:9272000-9282000	Weak transcription	NHDF-Ad	bronchial
19	chr11:9272000-9284600	Weak transcription	Fetal Brain Female	brain
20	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
21	chr11:9272200-9279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:9272200-9281600	Weak transcription	Hela-S3	cervix
23	chr11:9272200-9281600	Weak transcription	Osteobl	bone
24	chr11:9272400-9281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:9272400-9282000	Weak transcription	NHLF	lung
26	chr11:9272400-9282800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:9272600-9281200	Weak transcription	Right Ventricle	heart
28	chr11:9272600-9281400	Weak transcription	Ovary	ovary
29	chr11:9272600-9281400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
31	chr11:9272800-9278000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:9273200-9278200	Weak transcription	A549	lung
33	chr11:9273200-9282600	Weak transcription	Thymus	Thymus
34	chr11:9273200-9285400	Weak transcription	K562	blood
35	chr11:9273400-9278200	Weak transcription	NHEK	skin
36	chr11:9273400-9280000	Weak transcription	GM12878-XiMat	blood
37	chr11:9273400-9281200	Weak transcription	Primary B cells from cord blood	blood
38	chr11:9273600-9278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:9274000-9278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:9274400-9277600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:9274400-9277600	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:9274600-9277400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:9274600-9277600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr11:9274600-9277600	Strong transcription	Fetal Stomach	stomach
45	chr11:9274600-9285400	Weak transcription	Fetal Intestine Large	intestine
46	chr11:9274800-9278000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:9274800-9282000	Weak transcription	HepG2	liver
48	chr11:9274800-9283400	Weak transcription	Placenta	Placenta
49	chr11:9275000-9278000	Weak transcription	Brain Angular Gyrus	brain
50	chr11:9275000-9281600	Weak transcription	Stomach Smooth Muscle	stomach

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