Variant report

Variant	rs6760384
Chromosome Location	chr2:152587814-152587815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152561165..152563453-chr2:152587104..152589381,2	K562	blood:
2	chr2:152585426..152588067-chr2:152592929..152595399,2	K562	blood:
3	chr2:152575075..152576644-chr2:152586756..152588663,2	K562	blood:

Variant related genes	Relation type
ENSG00000183091	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10165921	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs10167462	1.00[CEU][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10170273	0.94[CEU][hapmap];0.80[JPT][hapmap]
rs10172692	0.86[EUR][1000 genomes]
rs10178880	0.94[CEU][hapmap];0.80[JPT][hapmap]
rs10193188	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1054883	0.94[CEU][hapmap]
rs10930740	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10930777	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11695661	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12052828	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12328501	0.81[EUR][1000 genomes]
rs12464543	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12616767	0.94[CEU][hapmap];0.86[JPT][hapmap]
rs12620077	0.94[CEU][hapmap];0.80[JPT][hapmap]
rs12693090	0.91[EUR][1000 genomes]
rs13015219	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13032138	0.94[CEU][hapmap]
rs13391135	0.80[ASN][1000 genomes]
rs13404704	0.94[CEU][hapmap]
rs1357468	0.87[CEU][hapmap];0.90[JPT][hapmap]
rs1523180	0.81[ASN][1000 genomes]
rs1799	0.94[CEU][hapmap]
rs2344733	0.94[CEU][hapmap];0.95[JPT][hapmap]
rs4077121	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077122	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4267505	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4273217	1.00[CEU][hapmap]
rs4274593	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289189	0.92[EUR][1000 genomes]
rs4300824	0.81[CHB][hapmap]
rs4309576	0.92[EUR][1000 genomes]
rs4349344	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4355107	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4358117	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4374369	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4375863	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4381781	1.00[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4413159	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4425075	1.00[CEU][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4465763	1.00[CEU][hapmap];0.83[JPT][hapmap];0.92[EUR][1000 genomes]
rs4508593	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4508594	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4536649	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4564766	1.00[CEU][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes]
rs4611637	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4614931	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4625904	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664494	0.82[CEU][hapmap]
rs4664497	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes]
rs4664498	0.81[CHB][hapmap]
rs4664501	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664502	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433566	0.92[EUR][1000 genomes]
rs6433569	0.80[JPT][hapmap];0.87[EUR][1000 genomes]
rs6433575	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433603	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433606	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433610	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6713162	0.94[CEU][hapmap];0.80[JPT][hapmap]
rs6715755	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6716286	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs6723129	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6729101	0.94[CEU][hapmap];0.90[JPT][hapmap]
rs6730589	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6733811	0.81[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs6733909	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6734148	1.00[CEU][hapmap];0.80[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6735208	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6747113	0.81[EUR][1000 genomes]
rs7424335	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7426114	0.94[CEU][hapmap]
rs7563441	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7564024	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7564674	0.92[EUR][1000 genomes]
rs7596744	0.94[CEU][hapmap]
rs9287990	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152584000-152588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:152584000-152588600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:152584000-152591000	Enhancers	Fetal Lung	lung
4	chr2:152584200-152588200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:152584200-152588200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:152584200-152588400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:152584600-152588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:152584600-152588400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:152584800-152588200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:152584800-152610400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:152585000-152588000	Enhancers	Primary B cells from cord blood	blood
12	chr2:152586400-152588600	Weak transcription	Psoas Muscle	Psoas
13	chr2:152586400-152588600	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr2:152586800-152588200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:152587000-152596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:152587200-152588200	Enhancers	HSMM	muscle
17	chr2:152587400-152588400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:152587600-152590400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:152587600-152591200	Active TSS	Fetal Muscle Trunk	muscle
20	chr2:152587800-152588000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:152587800-152588600	Weak transcription	HSMMtube	muscle
22	chr2:152587800-152591000	Active TSS	Fetal Muscle Leg	muscle

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