Variant report

Variant	rs152185
Chromosome Location	chr5:61720974-61720975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61699680..61701641-chr5:61719977..61722536,2	K562	blood:
2	chr5:61719601..61722587-chr5:61724504..61726966,2	MCF-7	breast:
3	chr5:61706862..61709221-chr5:61718868..61722472,3	K562	blood:
4	chr5:61717680..61720586-chr5:61720759..61724010,4	K562	blood:
5	chr5:61714025..61717535-chr5:61719136..61721817,3	K562	blood:
6	chr5:61708475..61710224-chr5:61720231..61721917,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086189	Chromatin interaction
ENSG00000086200	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1085103	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10939939	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11748930	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11952777	0.80[EUR][1000 genomes]
rs11957789	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12653369	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs12657535	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs12658601	0.81[EUR][1000 genomes]
rs12659777	0.95[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs152189	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs152190	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153872	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs15807	0.95[CEU][hapmap];0.90[GIH][hapmap];0.85[EUR][1000 genomes]
rs166006	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs166007	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs166008	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs166009	0.82[EUR][1000 genomes]
rs168847	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];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890606	0.91[CEU][hapmap];0.86[CHB][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs16890659	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs183729	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs185048	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs193682	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247219	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs247224	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs247226	0.81[EUR][1000 genomes]
rs247236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247256	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs247263	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs247271	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs247272	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs247274	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs26612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26633	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27751	0.96[GIH][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3213940	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs32160	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs32161	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs32179	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs32182	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs35008	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35009	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35014	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35015	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35016	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs39932	0.87[ASN][1000 genomes]
rs464058	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56095217	0.81[EUR][1000 genomes]
rs57835221	0.81[EUR][1000 genomes]
rs58057332	0.81[EUR][1000 genomes]
rs58266302	0.81[EUR][1000 genomes]
rs60468842	0.81[EUR][1000 genomes]
rs62374960	0.81[EUR][1000 genomes]
rs62374961	0.81[EUR][1000 genomes]
rs6449596	0.81[EUR][1000 genomes]
rs6449597	0.81[EUR][1000 genomes]
rs6871913	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs6882514	0.86[CEU][hapmap];0.86[CHB][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs6886044	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6893483	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6894270	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs7704066	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7711530	0.83[CEU][hapmap]
rs7718580	0.81[EUR][1000 genomes]
rs784900	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs784901	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs784902	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs962747	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS 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
11	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	25 gene(s)	inside rSNPs	diseases
12	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:61709400-61727400	Weak transcription	Placenta	Placenta
3	chr5:61709400-61727400	Weak transcription	Pancreas	Pancrea
4	chr5:61709400-61763400	Weak transcription	Aorta	Aorta
5	chr5:61709600-61723000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:61709600-61724600	Weak transcription	Fetal Stomach	stomach
7	chr5:61709600-61726400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:61709600-61728000	Weak transcription	Gastric	stomach
9	chr5:61709600-61738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:61709600-61738800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:61709600-61739800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:61709600-61744000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:61709800-61727400	Weak transcription	HSMM	muscle
14	chr5:61709800-61728000	Weak transcription	Fetal Lung	lung
15	chr5:61709800-61728000	Weak transcription	Right Ventricle	heart
16	chr5:61709800-61728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:61709800-61728200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:61709800-61738800	Weak transcription	Fetal Kidney	kidney
19	chr5:61709800-61743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:61709800-61746000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:61709800-61746600	Weak transcription	Fetal Thymus	thymus
22	chr5:61709800-61769000	Weak transcription	NH-A	brain
23	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:61710000-61721200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:61710000-61721400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:61710000-61727000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:61710000-61727200	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:61710000-61727600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:61710000-61729000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:61710000-61734200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:61710000-61734200	Weak transcription	Fetal Intestine Small	intestine
32	chr5:61710000-61737400	Weak transcription	Fetal Intestine Large	intestine
33	chr5:61710000-61739000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:61710000-61746000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:61710200-61728000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:61710200-61733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:61710200-61738800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:61710200-61746000	Weak transcription	Primary B cells from cord blood	blood
39	chr5:61710400-61733600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:61710400-61739000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:61710400-61746000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:61710600-61738800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:61710600-61739000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:61710600-61739200	Weak transcription	HMEC	breast
45	chr5:61710600-61739200	Weak transcription	NHEK	skin
46	chr5:61710600-61744000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:61710600-61746000	Weak transcription	A549	lung
48	chr5:61710800-61723600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:61710800-61727200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:61710800-61727400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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