Variant report

Variant	rs6433610
Chromosome Location	chr2:152617047-152617048
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152615094..152617806-chr2:152640783..152643681,2	K562	blood:
2	chr2:152614524..152619932-chr2:152620577..152626819,11	K562	blood:
3	chr2:152616288..152619244-chr2:152629461..152632128,2	K562	blood:
4	chr2:152615094..152618024-chr2:152639649..152643681,5	K562	blood:
5	chr2:152612871..152615021-chr2:152615228..152617086,7	K562	blood:
6	chr2:152615779..152617906-chr2:152682702..152684733,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10167462	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193188	0.83[EUR][1000 genomes]
rs10200512	0.84[ASN][1000 genomes]
rs10930740	0.85[EUR][1000 genomes]
rs10930777	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11676866	0.84[ASN][1000 genomes]
rs11695661	0.89[EUR][1000 genomes]
rs12052828	0.86[EUR][1000 genomes]
rs12464543	0.90[EUR][1000 genomes]
rs12693090	0.85[EUR][1000 genomes]
rs13015219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016166	0.84[ASN][1000 genomes]
rs13391135	0.83[ASN][1000 genomes]
rs1357468	0.81[ASN][1000 genomes]
rs1523180	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2344733	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4077121	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4077122	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4267505	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4273217	0.86[EUR][1000 genomes]
rs4274593	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4289189	0.86[EUR][1000 genomes]
rs4309576	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4349344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355107	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4374369	0.89[EUR][1000 genomes]
rs4375863	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4381781	0.89[EUR][1000 genomes]
rs4413159	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4425075	0.91[EUR][1000 genomes]
rs4465763	0.86[EUR][1000 genomes]
rs4508593	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508594	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4564766	0.86[EUR][1000 genomes]
rs4611637	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4614931	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625904	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4664497	0.86[EUR][1000 genomes]
rs4664501	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4664502	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433566	0.86[EUR][1000 genomes]
rs6433569	0.81[EUR][1000 genomes]
rs6433575	0.89[EUR][1000 genomes]
rs6433603	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433606	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715755	0.90[EUR][1000 genomes]
rs6716286	0.88[EUR][1000 genomes]
rs6723129	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6730589	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6733811	0.81[EUR][1000 genomes]
rs6733909	0.86[EUR][1000 genomes]
rs6734148	0.90[EUR][1000 genomes]
rs6735208	0.84[EUR][1000 genomes]
rs6744121	0.83[ASN][1000 genomes]
rs6760384	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7563441	0.88[EUR][1000 genomes]
rs7564674	0.86[EUR][1000 genomes]
rs7567785	0.84[AMR][1000 genomes];0.89[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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3414820	chr2:152616581-152618629	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2592137	chr2:152616645-152618365	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152595800-152620200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152597200-152618400	Weak transcription	Aorta	Aorta
3	chr2:152598200-152618600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:152609400-152617200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:152611000-152632400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:152611200-152617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:152611200-152620400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:152611600-152622600	Enhancers	K562	blood
9	chr2:152612000-152622200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:152614600-152622000	Weak transcription	Fetal Lung	lung
11	chr2:152614600-152622200	Weak transcription	Left Ventricle	heart
12	chr2:152614600-152638000	Weak transcription	Pancreas	Pancrea
13	chr2:152615000-152622400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:152615400-152622400	Weak transcription	Lung	lung
15	chr2:152615600-152623000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:152616200-152619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:152616400-152617200	Flanking Active TSS	HepG2	liver
18	chr2:152616400-152617200	Enhancers	HSMMtube	muscle
19	chr2:152616600-152617200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:152616600-152617200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:152616600-152617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:152616600-152617200	Enhancers	Right Atrium	heart
23	chr2:152616600-152620200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:152616800-152617200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:152616800-152617200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:152616800-152617200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:152616800-152618000	Weak transcription	Psoas Muscle	Psoas
28	chr2:152616800-152619800	Weak transcription	Placenta	Placenta
29	chr2:152616800-152621400	Weak transcription	Fetal Stomach	stomach
30	chr2:152616800-152622200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:152616800-152644400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:152617000-152620400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:152617000-152622200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:152617000-152622400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:152617000-152622400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:152617000-152623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:152617000-152632600	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:152617000-152638000	Weak transcription	Esophagus	oesophagus
40	chr2:152617000-152669400	Weak transcription	Gastric	stomach

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