Variant report

Variant	rs12328290
Chromosome Location	chr2:10477964-10477965
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	chr2:10475838..10478793-chr2:10479239..10481530,2	K562	blood:
2	chr2:10477673..10479224-chr2:10494997..10496911,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11891604	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13402238	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558629	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638790	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56261863	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57128023	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59408255	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60661460	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735172	0.87[EUR][1000 genomes]
rs6743846	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745569	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6751416	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6755410	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758633	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161267	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161277	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161279	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161280	0.89[EUR][1000 genomes]
rs7557360	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581642	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10467200-10482800	Weak transcription	Psoas Muscle	Psoas
2	chr2:10472200-10482600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:10472200-10494200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:10472400-10478600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:10472400-10480000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:10472400-10486200	Weak transcription	Esophagus	oesophagus
7	chr2:10473000-10483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:10473000-10484400	Weak transcription	Right Atrium	heart
9	chr2:10473000-10484800	Weak transcription	Osteobl	bone
10	chr2:10473000-10486000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:10473000-10486000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:10473000-10486000	Weak transcription	HUVEC	blood vessel
13	chr2:10473000-10489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:10473400-10484800	Weak transcription	Small Intestine	intestine
15	chr2:10473400-10496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:10473600-10478400	Weak transcription	Right Ventricle	heart
17	chr2:10473600-10478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:10473600-10480200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:10473600-10487200	Weak transcription	Colonic Mucosa	Colon
20	chr2:10473800-10478600	Weak transcription	Gastric	stomach
21	chr2:10473800-10482400	Weak transcription	Left Ventricle	heart
22	chr2:10473800-10483400	Weak transcription	Ovary	ovary
23	chr2:10474000-10478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:10475600-10478600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:10475600-10478600	Weak transcription	Lung	lung
26	chr2:10475600-10478600	Weak transcription	Pancreas	Pancrea
27	chr2:10475600-10480600	Weak transcription	Spleen	Spleen
28	chr2:10475600-10481200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:10475600-10482400	Weak transcription	HSMM	muscle
30	chr2:10475600-10483800	Weak transcription	Fetal Lung	lung
31	chr2:10475600-10485200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:10475800-10478400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:10475800-10478400	Weak transcription	HMEC	breast
34	chr2:10475800-10478600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:10475800-10478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:10475800-10478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:10475800-10478800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:10475800-10478800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:10475800-10480000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:10475800-10480000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:10475800-10480000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:10475800-10480000	Weak transcription	Fetal Stomach	stomach
43	chr2:10475800-10480000	Weak transcription	Thymus	Thymus
44	chr2:10475800-10480600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:10475800-10480800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:10475800-10481000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:10475800-10481600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:10475800-10482800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:10475800-10482800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:10475800-10483000	Weak transcription	Fetal Muscle Leg	muscle

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