Variant report

Variant	rs264521
Chromosome Location	chr5:61632175-61632176
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61629672..61632580-chr5:61634669..61639677,5	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10062387	0.83[CHB][hapmap]
rs10069745	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs10069988	0.82[CHB][hapmap]
rs10071537	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs101091	0.83[CHB][hapmap]
rs10461472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10471545	0.88[CEU][hapmap]
rs10471546	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939937	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12515967	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659793	0.83[CHB][hapmap]
rs12659814	0.81[CHB][hapmap]
rs12696990	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1301064	0.82[CHB][hapmap]
rs1301065	0.83[CHB][hapmap]
rs1309156	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13155700	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13361143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs149540	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs149599	0.81[EUR][1000 genomes]
rs152184	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs152186	0.82[CHB][hapmap]
rs152187	0.84[CEU][hapmap]
rs152191	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes]
rs152192	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs152199	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs152208	0.80[EUR][1000 genomes]
rs152209	0.82[EUR][1000 genomes]
rs152215	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs153857	0.84[CEU][hapmap]
rs153858	0.84[CEU][hapmap]
rs153862	0.84[CEU][hapmap]
rs16890622	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs173522	0.84[CEU][hapmap]
rs174647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995782	0.82[CHB][hapmap]
rs2034240	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2344396	0.88[CEU][hapmap]
rs247218	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247220	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247221	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247222	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247223	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247225	0.81[ASN][1000 genomes]
rs247227	0.81[ASN][1000 genomes]
rs247229	0.84[CEU][hapmap]
rs247231	0.82[CHB][hapmap]
rs247233	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs247237	0.82[CHB][hapmap]
rs247240	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs247244	0.96[CEU][hapmap];0.83[CHB][hapmap]
rs247245	0.84[CEU][hapmap]
rs247247	0.81[CEU][hapmap]
rs247250	0.82[CHB][hapmap]
rs247254	0.81[ASN][1000 genomes]
rs247255	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247264	0.83[CHB][hapmap];0.84[YRI][hapmap]
rs247265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247266	0.81[ASN][1000 genomes]
rs247267	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247268	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247269	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247270	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247273	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247275	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247479	0.82[CHB][hapmap]
rs264519	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs264523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264528	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264530	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs264531	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26624	0.84[CEU][hapmap]
rs26625	0.82[CEU][hapmap]
rs26628	0.82[CEU][hapmap]
rs26629	0.80[CEU][hapmap]
rs26630	0.84[CEU][hapmap]
rs26635	0.82[CHB][hapmap]
rs26637	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs26638	0.81[CEU][hapmap]
rs26642	0.82[CHB][hapmap]
rs26645	0.84[CEU][hapmap]
rs27448	0.82[CHB][hapmap]
rs27542	0.84[CEU][hapmap]
rs27693	0.96[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs27931	0.81[CHB][hapmap]
rs32181	0.80[CEU][hapmap]
rs32187	0.80[CEU][hapmap]
rs35010	0.84[CEU][hapmap]
rs35059	0.84[CEU][hapmap]
rs35119	0.82[CHB][hapmap]
rs3776615	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776638	0.92[CEU][hapmap];0.91[CHB][hapmap]
rs3822485	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3846467	0.83[CHB][hapmap]
rs39935	0.80[CEU][hapmap]
rs4145851	0.81[CHB][hapmap]
rs438143	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4441833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4700004	0.89[CEU][hapmap]
rs4700006	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4700009	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56836756	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67150497	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6881888	0.92[CEU][hapmap];0.91[CHB][hapmap]
rs7700569	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707035	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7722692	0.92[CEU][hapmap];0.91[CHB][hapmap]
rs784916	0.82[CHB][hapmap]
rs784921	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs9291756	0.89[CEU][hapmap]
rs9291758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959899	0.96[CEU][hapmap];0.95[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9968583	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9968586	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
2	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
4	chr5:61607800-61669400	Weak transcription	NHLF	lung
5	chr5:61610200-61658600	Weak transcription	Ovary	ovary
6	chr5:61611600-61639000	Weak transcription	HMEC	breast
7	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
13	chr5:61621800-61638000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:61622400-61633400	Weak transcription	HUVEC	blood vessel
15	chr5:61622400-61676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:61622600-61643800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:61622600-61658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:61623000-61643000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:61623000-61646200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:61623800-61643800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:61623800-61658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:61624000-61669600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:61625400-61644000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:61625400-61646200	Weak transcription	Adipose Nuclei	Adipose
25	chr5:61626600-61639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:61628000-61638000	Weak transcription	Small Intestine	intestine
27	chr5:61628200-61644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:61628800-61652000	Weak transcription	Fetal Brain Female	brain
29	chr5:61629000-61635400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:61629200-61676400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:61629400-61632200	Strong transcription	Primary B cells from cord blood	blood
32	chr5:61629600-61645600	Weak transcription	HSMMtube	muscle
33	chr5:61629600-61665000	Weak transcription	Esophagus	oesophagus
34	chr5:61629800-61643200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:61629800-61659400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:61630200-61632400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:61630200-61646000	Weak transcription	Fetal Brain Male	brain
38	chr5:61630400-61632200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:61630600-61643800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:61630600-61644000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:61630800-61633000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:61630800-61636200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:61630800-61643600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:61631000-61632400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:61631000-61644200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:61631000-61658400	Weak transcription	Colonic Mucosa	Colon
47	chr5:61631200-61632400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:61631200-61636000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:61631200-61636200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:61631200-61636800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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