Variant report

Variant	rs2282222
Chromosome Location	chr9:86242994-86242995
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86238599..86242233-chr9:86242446..86245459,4	K562	blood:
2	chr9:86241062..86243617-chr9:86248330..86250163,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11140175	0.90[ASN][1000 genomes]
rs11140178	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11140179	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140191	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140197	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11140199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11140203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11140215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11140217	1.00[EUR][1000 genomes]
rs11140219	1.00[EUR][1000 genomes]
rs11140225	1.00[EUR][1000 genomes]
rs11140228	1.00[EUR][1000 genomes]
rs11140229	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11140230	0.92[EUR][1000 genomes]
rs11140235	1.00[EUR][1000 genomes]
rs11140238	1.00[CEU][hapmap]
rs11140248	1.00[EUR][1000 genomes]
rs11140250	1.00[EUR][1000 genomes]
rs11140252	1.00[EUR][1000 genomes]
rs11140254	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11140257	1.00[EUR][1000 genomes]
rs11140258	1.00[EUR][1000 genomes]
rs11140266	0.92[EUR][1000 genomes]
rs11140269	0.85[EUR][1000 genomes]
rs11140270	0.85[EUR][1000 genomes]
rs11559387	0.85[EUR][1000 genomes]
rs11560627	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12235151	0.92[EUR][1000 genomes]
rs12235969	1.00[CEU][hapmap]
rs12236455	0.92[EUR][1000 genomes]
rs12236743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12237262	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12237555	1.00[EUR][1000 genomes]
rs12238365	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12238575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2282221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780985	1.00[CHB][hapmap]
rs28627139	1.00[EUR][1000 genomes]
rs28655802	0.86[EUR][1000 genomes]
rs3763626	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61741464	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7019273	1.00[AMR][1000 genomes]
rs7019310	1.00[AMR][1000 genomes]
rs7043270	0.82[AFR][1000 genomes]
rs7847808	1.00[AMR][1000 genomes]
rs7848643	1.00[AMR][1000 genomes]
rs7874862	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv516587	chr9:86226119-86255765	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv973848	chr9:86241130-86260149	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86238600-86265000	Weak transcription	Ovary	ovary
2	chr9:86238800-86243000	Weak transcription	Lung	lung
3	chr9:86238800-86243600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:86238800-86244400	Weak transcription	Aorta	Aorta
5	chr9:86238800-86246000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:86238800-86246000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:86238800-86254600	Weak transcription	Left Ventricle	heart
8	chr9:86238800-86260600	Weak transcription	Right Ventricle	heart
9	chr9:86238800-86264600	Weak transcription	Psoas Muscle	Psoas
10	chr9:86239000-86244200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:86239000-86244200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:86239000-86244400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:86239000-86244400	Weak transcription	HSMM	muscle
14	chr9:86239000-86244600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:86239000-86244600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:86239000-86245200	Weak transcription	Fetal Kidney	kidney
17	chr9:86239000-86245400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:86239000-86250000	Weak transcription	HSMMtube	muscle
19	chr9:86239000-86264800	Weak transcription	HMEC	breast
20	chr9:86239000-86265200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:86239200-86243000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:86239200-86243800	Weak transcription	A549	lung
23	chr9:86239200-86243800	Weak transcription	Osteobl	bone
24	chr9:86239200-86244000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:86239200-86244000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:86239200-86244000	Weak transcription	NHLF	lung
27	chr9:86239200-86244200	Weak transcription	Colonic Mucosa	Colon
28	chr9:86239200-86244400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:86239200-86244800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:86239200-86245800	Weak transcription	Brain Germinal Matrix	brain
31	chr9:86239200-86261000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:86239400-86243800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr9:86239400-86244000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:86239400-86244600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:86239400-86245400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:86239400-86245800	Weak transcription	Fetal Heart	heart
37	chr9:86239400-86245800	Weak transcription	Fetal Lung	lung
38	chr9:86239400-86248000	Weak transcription	NHDF-Ad	bronchial
39	chr9:86239400-86254400	Weak transcription	Brain Anterior Caudate	brain
40	chr9:86239400-86254400	Weak transcription	Brain Substantia Nigra	brain
41	chr9:86239400-86266200	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:86239400-86266400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:86239600-86243000	Weak transcription	Spleen	Spleen
44	chr9:86239600-86243600	Weak transcription	Dnd41	blood
45	chr9:86239600-86243800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:86239600-86243800	Weak transcription	GM12878-XiMat	blood
47	chr9:86239600-86245600	Weak transcription	Brain Angular Gyrus	brain
48	chr9:86239600-86245600	Weak transcription	Fetal Brain Female	brain
49	chr9:86239600-86260800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr9:86239600-86260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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