Variant report

Variant	rs9888229
Chromosome Location	chr11:9263829-9263830
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9261606..9264220-chr11:9264222..9265740,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10770000	0.90[ASN][1000 genomes]
rs10770001	0.90[ASN][1000 genomes]
rs10770006	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs10770008	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs10770010	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs10770016	0.82[JPT][hapmap]
rs11042227	0.93[ASN][1000 genomes]
rs11042245	0.85[ASN][1000 genomes]
rs11042256	0.80[AMR][1000 genomes]
rs11042267	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs11608172	0.89[ASN][1000 genomes]
rs12289113	0.93[ASN][1000 genomes]
rs12295767	0.97[ASN][1000 genomes]
rs12296016	0.90[ASN][1000 genomes]
rs12420463	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12577661	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2133216	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2873069	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34729888	0.93[ASN][1000 genomes]
rs35757766	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35955530	0.89[ASN][1000 genomes]
rs4369406	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs5014247	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes]
rs61877814	0.93[ASN][1000 genomes]
rs6486206	0.90[JPT][hapmap]
rs6486210	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs6486215	0.86[ASN][1000 genomes]
rs6486226	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6486231	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7104221	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7109911	0.85[ASN][1000 genomes]
rs7112540	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7114688	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7115062	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7116459	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7121013	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs7123342	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs7124178	0.81[ASN][1000 genomes]
rs7396439	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7482630	0.89[ASN][1000 genomes]
rs770	0.90[ASN][1000 genomes]
rs7924664	0.93[ASN][1000 genomes]
rs7933448	0.91[ASN][1000 genomes]
rs7941520	0.90[ASN][1000 genomes]
rs7951700	0.90[ASN][1000 genomes]
rs952374	0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs9736263	0.88[ASN][1000 genomes]
rs9888193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9251000-9271600	Weak transcription	Hela-S3	cervix
2	chr11:9251000-9274400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:9251400-9271800	Weak transcription	Gastric	stomach
4	chr11:9252600-9264000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:9252600-9272400	Weak transcription	Spleen	Spleen
6	chr11:9252600-9272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:9253000-9265000	Weak transcription	K562	blood
8	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:9253200-9269600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:9253200-9274600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:9253600-9268200	Weak transcription	HepG2	liver
12	chr11:9253800-9271400	Weak transcription	HSMM	muscle
13	chr11:9254200-9267600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:9254400-9264200	Weak transcription	HUVEC	blood vessel
15	chr11:9254400-9267600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:9254400-9271600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:9254400-9271800	Weak transcription	Osteobl	bone
18	chr11:9254400-9272400	Weak transcription	Ovary	ovary
19	chr11:9254400-9274600	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:9254400-9280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:9254600-9267600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:9255200-9271800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:9255400-9269600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:9256600-9274400	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:9257000-9276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:9257600-9276800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:9258400-9267400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:9258400-9267600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:9259000-9267600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:9259200-9271600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:9259400-9266200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:9260800-9267600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:9261800-9265200	Enhancers	Brain Substantia Nigra	brain
36	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:9262000-9264000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:9262000-9267400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:9262200-9264400	Enhancers	GM12878-XiMat	blood
40	chr11:9262200-9265200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr11:9262200-9271400	Weak transcription	Left Ventricle	heart
42	chr11:9262200-9274600	Weak transcription	Fetal Stomach	stomach
43	chr11:9262400-9264400	Enhancers	Brain Angular Gyrus	brain
44	chr11:9262400-9267400	Weak transcription	Fetal Thymus	thymus
45	chr11:9262400-9267800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:9262400-9282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:9262600-9267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:9262800-9264000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:9262800-9264000	Weak transcription	Primary T cells from cord blood	blood
50	chr11:9262800-9267200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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