Variant report

Variant	rs11090518
Chromosome Location	chr22:28282158-28282159
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28262052..28264776-chr22:28281551..28284390,2	MCF-7	breast:
2	chr22:28278686..28280659-chr22:28281964..28283752,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10483138	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165651	0.84[AFR][1000 genomes]
rs12166069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170294	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12330032	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985666	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985679	0.80[YRI][hapmap]
rs16985691	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985697	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16985704	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985705	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58520548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288331	0.82[AFR][1000 genomes]
rs8140760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142920	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs926468	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306449	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306450	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620744	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620746	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620747	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620755	0.84[AFR][1000 genomes]
rs9625345	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625346	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625348	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625349	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625351	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625352	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625357	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625367	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr22:28273200-28287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:28273800-28283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr22:28274000-28284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:28276000-28283400	Enhancers	Colon Smooth Muscle	Colon
8	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
9	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr22:28277600-28282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr22:28277600-28284400	Weak transcription	Stomach Mucosa	stomach
13	chr22:28277800-28282200	Weak transcription	Fetal Brain Male	brain
14	chr22:28277800-28283200	Weak transcription	Psoas Muscle	Psoas
15	chr22:28277800-28308400	Strong transcription	Dnd41	blood
16	chr22:28278200-28287000	Weak transcription	Small Intestine	intestine
17	chr22:28278400-28298800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr22:28278400-28299000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr22:28278600-28299000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:28278600-28299600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr22:28278600-28299800	Strong transcription	Primary T cells from cord blood	blood
22	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
23	chr22:28279000-28282200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:28279000-28283200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:28279000-28299600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:28279000-28300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:28279200-28284800	Weak transcription	Brain Angular Gyrus	brain
28	chr22:28279200-28287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:28279400-28298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:28279600-28282200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:28279600-28282200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:28279600-28284200	Weak transcription	Fetal Brain Female	brain
33	chr22:28279600-28298400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr22:28279600-28298600	Strong transcription	Primary B cells from cord blood	blood
35	chr22:28279600-28299000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr22:28279800-28282200	Weak transcription	Brain Anterior Caudate	brain
37	chr22:28279800-28282200	Strong transcription	A549	lung
38	chr22:28279800-28282200	Strong transcription	Hela-S3	cervix
39	chr22:28279800-28282400	Weak transcription	Fetal Heart	heart
40	chr22:28279800-28282400	Strong transcription	Fetal Intestine Large	intestine
41	chr22:28279800-28292200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:28279800-28295400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr22:28280000-28283200	Weak transcription	Right Atrium	heart
44	chr22:28280000-28284600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:28280200-28282200	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:28280200-28282400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:28280200-28282400	Strong transcription	Liver	Liver
48	chr22:28280200-28283000	Weak transcription	Right Ventricle	heart
49	chr22:28280200-28283200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:28280200-28284400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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