Variant report

Variant	rs9306449
Chromosome Location	chr22:28262401-28262402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28253925..28256869-chr22:28259144..28262465,3	K562	blood:
2	chr22:28262052..28264776-chr22:28281551..28284390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction

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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090518	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]
rs12165651	0.84[AFR][1000 genomes]
rs12166069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168582	0.91[MKK][hapmap]
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[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]
rs16985691	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985697	1.00[CEU][hapmap];0.90[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[GIH][hapmap];1.00[MKK][hapmap];0.90[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];0.89[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs926468	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];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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625346	1.00[CEU][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[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];0.83[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625357	1.00[CEU][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	chr22:28242400-28263200	Strong transcription	GM12878-XiMat	blood
2	chr22:28243800-28274000	Strong transcription	Dnd41	blood
3	chr22:28244000-28263600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:28244200-28264200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:28248600-28263000	Weak transcription	Right Atrium	heart
7	chr22:28251600-28267400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:28252200-28262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:28252800-28265000	Weak transcription	K562	blood
10	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:28254000-28264200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:28254000-28264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
15	chr22:28254200-28263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:28254200-28263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:28254200-28266600	Weak transcription	Fetal Brain Female	brain
18	chr22:28254200-28270200	Weak transcription	Right Ventricle	heart
19	chr22:28254400-28265200	Weak transcription	Brain Germinal Matrix	brain
20	chr22:28254600-28263600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:28254600-28267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr22:28255000-28271200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:28256000-28262600	Weak transcription	Aorta	Aorta
24	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
25	chr22:28256200-28263200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr22:28256200-28263600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:28256800-28263400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr22:28256800-28268400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:28257400-28264200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr22:28257600-28263200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:28258000-28263200	Weak transcription	Fetal Thymus	thymus
32	chr22:28258200-28263200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr22:28258200-28263200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr22:28258200-28263600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr22:28258200-28264200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:28258200-28265800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr22:28258200-28267400	Weak transcription	Lung	lung
38	chr22:28258200-28267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:28258400-28263800	Weak transcription	Thymus	Thymus
41	chr22:28258400-28266400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr22:28258600-28266400	Enhancers	Fetal Lung	lung
43	chr22:28259000-28262600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:28259000-28263000	Enhancers	Hela-S3	cervix
45	chr22:28259000-28264200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr22:28259000-28264200	Weak transcription	Fetal Muscle Leg	muscle
47	chr22:28259000-28267400	Enhancers	Fetal Intestine Small	intestine
48	chr22:28259000-28267800	Weak transcription	Pancreas	Pancrea
49	chr22:28259200-28262600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr22:28259200-28262600	Weak transcription	Brain Angular Gyrus	brain

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