Variant report

Variant	rs2403222
Chromosome Location	chr11:9852490-9852491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9837195..9840045-chr11:9851275..9853158,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10743119	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770067	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10770068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840311	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11601110	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12273851	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12278797	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12574461	0.82[ASN][1000 genomes]
rs12574467	0.92[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs12574474	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12574508	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12574765	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12575022	0.81[ASN][1000 genomes]
rs12576762	0.96[ASN][1000 genomes]
rs12576763	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12577960	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12578023	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17268414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403221	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360118	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108907	1.00[JPT][hapmap]
rs7937716	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7948674	0.81[ASN][1000 genomes]
rs7951573	0.94[ASN][1000 genomes]
rs958875	1.00[JPT][hapmap];0.83[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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9812200-9862200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:9818600-9881400	Weak transcription	Spleen	Spleen
3	chr11:9824200-9867600	Weak transcription	Psoas Muscle	Psoas
4	chr11:9826800-9868200	Weak transcription	Aorta	Aorta
5	chr11:9829600-9853000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:9829600-9853000	Weak transcription	Brain Substantia Nigra	brain
7	chr11:9829600-9865600	Weak transcription	Gastric	stomach
8	chr11:9829800-9853000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:9830000-9860000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:9830000-9860800	Weak transcription	Primary T cells from cord blood	blood
11	chr11:9830000-9864400	Weak transcription	Esophagus	oesophagus
12	chr11:9830200-9853200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:9830200-9863000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:9830400-9852800	Weak transcription	Lung	lung
15	chr11:9830400-9860400	Weak transcription	Primary B cells from cord blood	blood
16	chr11:9830400-9860400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:9830400-9860400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:9830400-9860400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:9830400-9860800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:9830400-9880400	Weak transcription	Thymus	Thymus
21	chr11:9830600-9860400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:9830800-9860600	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:9830800-9865600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:9830800-9866800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:9830800-9880600	Weak transcription	Fetal Brain Male	brain
26	chr11:9833200-9852800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:9833400-9868400	Weak transcription	Fetal Kidney	kidney
28	chr11:9833600-9852800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:9833600-9878800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:9834200-9852800	Weak transcription	Dnd41	blood
31	chr11:9834200-9876600	Weak transcription	Brain Germinal Matrix	brain
32	chr11:9834400-9852800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:9834400-9860600	Weak transcription	Brain Anterior Caudate	brain
34	chr11:9834600-9852600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:9834600-9852800	Weak transcription	Liver	Liver
36	chr11:9834600-9852800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:9834600-9853200	Weak transcription	Colonic Mucosa	Colon
38	chr11:9834600-9856000	Weak transcription	Fetal Brain Female	brain
39	chr11:9834600-9867400	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:9834600-9877200	Weak transcription	Right Ventricle	heart
41	chr11:9834800-9852800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:9834800-9853000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:9835200-9852600	Weak transcription	Left Ventricle	heart
44	chr11:9835400-9852600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:9835400-9860400	Weak transcription	Fetal Stomach	stomach
46	chr11:9837600-9860400	Weak transcription	HSMMtube	muscle
47	chr11:9837600-9863200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:9837600-9885800	Weak transcription	Hela-S3	cervix
49	chr11:9838000-9852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:9838000-9852600	Weak transcription	Placenta	Placenta

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