Variant report

Variant	rs6712533
Chromosome Location	chr2:152526082-152526083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152524436..152526394-chr2:152528690..152531514,2	K562	blood:
2	chr2:152524436..152527296-chr2:152527815..152531514,4	K562	blood:
3	chr2:152524660..152526249-chr2:152545100..152547655,2	K562	blood:
4	chr2:152525703..152527793-chr2:152563733..152565410,2	K562	blood:

Variant related genes	Relation type
ENSG00000183091	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165921	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs10170273	0.88[GIH][hapmap]
rs10178880	0.82[CHB][hapmap];0.85[GIH][hapmap];0.81[ASN][1000 genomes]
rs10930723	0.80[ASN][1000 genomes]
rs11682909	0.84[GIH][hapmap]
rs11894672	0.84[GIH][hapmap]
rs11896217	0.87[GIH][hapmap]
rs12052828	0.80[CHB][hapmap];0.80[ASN][1000 genomes]
rs12464543	0.81[GIH][hapmap]
rs12472627	0.88[CEU][hapmap];0.92[GIH][hapmap]
rs12618063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes]
rs12620077	0.85[GIH][hapmap]
rs13032138	0.80[JPT][hapmap]
rs1523181	0.87[GIH][hapmap]
rs1916301	0.88[CEU][hapmap]
rs34577613	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768658	0.87[GIH][hapmap]
rs4289189	0.80[ASN][1000 genomes]
rs4300824	0.88[CEU][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4316939	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4393745	0.87[GIH][hapmap]
rs4414677	0.88[CEU][hapmap];0.92[GIH][hapmap]
rs4453694	0.89[GIH][hapmap]
rs4510224	0.86[GIH][hapmap]
rs4536649	0.85[GIH][hapmap]
rs4564766	0.81[GIH][hapmap]
rs4664066	0.84[GIH][hapmap]
rs4664494	0.85[GIH][hapmap]
rs4664496	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4664498	0.88[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4664499	0.87[GIH][hapmap]
rs58903550	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433569	0.81[GIH][hapmap]
rs6711382	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes]
rs6712443	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][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]
rs6713162	0.87[GIH][hapmap]
rs6733811	0.80[ASN][1000 genomes]
rs6733909	0.80[ASN][1000 genomes]
rs7424335	0.88[CEU][hapmap];0.95[GIH][hapmap];0.80[EUR][1000 genomes]
rs7426114	0.82[CHD][hapmap];0.90[GIH][hapmap]
rs7564024	0.85[GIH][hapmap]
rs7564674	0.80[ASN][1000 genomes]
rs9287990	0.87[GIH][hapmap]

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	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152504400-152531600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152505200-152543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:152511200-152531200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr2:152511400-152531400	Strong transcription	Fetal Muscle Leg	muscle
5	chr2:152514600-152542800	Strong transcription	HSMMtube	muscle
6	chr2:152515400-152529000	Weak transcription	Aorta	Aorta
7	chr2:152520400-152528600	Weak transcription	Brain Anterior Caudate	brain
8	chr2:152521600-152537800	Weak transcription	Psoas Muscle	Psoas
9	chr2:152522600-152527400	Weak transcription	Spleen	Spleen
10	chr2:152523400-152526400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:152525200-152526600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:152525400-152526200	Enhancers	K562	blood
13	chr2:152525400-152526400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:152525400-152527200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:152525400-152527400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:152525400-152530000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:152525600-152526600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:152525600-152526600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:152525600-152527200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:152525600-152527800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:152525600-152533000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:152525800-152526600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:152525800-152527200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:152525800-152527600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:152526000-152526200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:152526000-152526200	Enhancers	Lung	lung
27	chr2:152526000-152526400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:152526000-152526400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:152526000-152526400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:152526000-152526400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:152526000-152526400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:152526000-152526600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr2:152526000-152526600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:152526000-152526600	Enhancers	Left Ventricle	heart
35	chr2:152526000-152526800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:152526000-152526800	Enhancers	NH-A	brain
37	chr2:152526000-152527000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:152526000-152527000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:152526000-152527800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:152526000-152527800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:152526000-152527800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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