Variant report

Variant	rs4664501
Chromosome Location	chr2:152585677-152585678
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	chr2:152585502..152587063-chr2:152681615..152683144,2	K562	blood:
2	chr2:152585426..152588067-chr2:152592929..152595399,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10165921	0.82[ASN][1000 genomes]
rs10167462	1.00[CEU][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10170273	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs10172692	0.85[EUR][1000 genomes]
rs10178880	0.94[CEU][hapmap]
rs10193188	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1054883	0.94[CEU][hapmap]
rs10930740	0.92[EUR][1000 genomes]
rs10930777	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11695661	1.00[CEU][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12052828	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12328501	0.82[EUR][1000 genomes]
rs12464543	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12616767	0.94[CEU][hapmap];0.91[JPT][hapmap]
rs12620077	0.94[CEU][hapmap]
rs12693090	0.93[EUR][1000 genomes]
rs13015219	0.82[AMR][1000 genomes];0.89[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];0.85[JPT][hapmap]
rs1523180	0.81[ASN][1000 genomes]
rs1799	0.94[CEU][hapmap]
rs2344733	0.94[CEU][hapmap];0.91[JPT][hapmap]
rs4077121	1.00[CEU][hapmap];0.91[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077122	1.00[CEU][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4267505	0.81[ASN][1000 genomes]
rs4273217	1.00[CEU][hapmap]
rs4274593	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289189	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4309576	0.91[EUR][1000 genomes]
rs4349344	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4355107	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4358117	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4374369	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4375863	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4381781	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4413159	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4425075	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4465763	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs4508593	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4508594	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4536649	0.94[CEU][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4564766	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4611637	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4614931	1.00[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4625904	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4664494	0.81[CEU][hapmap]
rs4664497	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs4664502	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6433566	0.94[EUR][1000 genomes]
rs6433569	0.88[EUR][1000 genomes]
rs6433575	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6433603	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433606	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433610	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6713162	0.94[CEU][hapmap]
rs6715755	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6716286	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs6723129	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6729101	0.94[CEU][hapmap];0.85[JPT][hapmap]
rs6730589	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6733811	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs6733909	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6734148	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6735208	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6747113	0.83[EUR][1000 genomes]
rs6760384	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]
rs7424335	0.81[ASN][1000 genomes]
rs7426114	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs7563441	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7564024	0.93[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7564674	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7596744	0.94[CEU][hapmap]
rs9287990	0.94[CEU][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]

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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152582800-152586400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr2:152583000-152586400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr2:152583000-152587400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
4	chr2:152584000-152588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:152584000-152588600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:152584000-152591000	Enhancers	Fetal Lung	lung
7	chr2:152584200-152587000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:152584200-152588200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:152584200-152588200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:152584200-152588400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:152584400-152585800	Weak transcription	HSMMtube	muscle
12	chr2:152584600-152588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:152584600-152588400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:152584800-152586200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:152584800-152588200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:152584800-152610400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:152585000-152587600	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:152585000-152588000	Enhancers	Primary B cells from cord blood	blood
19	chr2:152585200-152585800	Enhancers	A549	lung
20	chr2:152585200-152586200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:152585200-152586800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:152585200-152587600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:152585400-152586200	Enhancers	Gastric	stomach
24	chr2:152585400-152586400	Enhancers	Psoas Muscle	Psoas
25	chr2:152585400-152587000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:152585400-152587400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:152585400-152587600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:152585600-152586200	Enhancers	Pancreas	Pancrea
29	chr2:152585600-152587200	Genic enhancers	Fetal Muscle Leg	muscle
30	chr2:152585600-152587800	Weak transcription	Stomach Mucosa	stomach

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