Variant report

Variant	rs10059085
Chromosome Location	chr5:50041327-50041328
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	chr21:38935799..38937565-chr5:50040178..50042178,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10035164	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10035688	1.00[YRI][hapmap]
rs10036060	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10039272	1.00[ASN][1000 genomes]
rs10044566	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10051561	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10053011	1.00[CHB][hapmap]
rs10054381	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10056836	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10058388	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10060850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10065432	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10072398	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10075034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10085036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10755235	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10940472	0.88[ASN][1000 genomes]
rs10940497	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11750241	0.88[ASN][1000 genomes]
rs11750771	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12188262	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12188654	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12519006	0.80[ASN][1000 genomes]
rs12521579	0.80[ASN][1000 genomes]
rs13153982	0.88[ASN][1000 genomes]
rs13173734	0.88[ASN][1000 genomes]
rs13359044	0.80[ASN][1000 genomes]
rs13361410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13436520	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs152102	0.80[ASN][1000 genomes]
rs154134	0.80[ASN][1000 genomes]
rs154135	0.80[ASN][1000 genomes]
rs154137	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs154138	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs154140	0.80[ASN][1000 genomes]
rs154141	0.80[ASN][1000 genomes]
rs16884018	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs169497	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs17195388	0.80[ASN][1000 genomes]
rs182230	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1839128	1.00[CHB][hapmap]
rs2354525	0.87[ASN][1000 genomes]
rs2548581	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs2548582	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2548583	1.00[JPT][hapmap]
rs256340	1.00[CHB][hapmap]
rs256341	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2594706	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs26062	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs26065	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs26069	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs26071	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs27254	0.80[ASN][1000 genomes]
rs27357	0.80[ASN][1000 genomes]
rs27389	1.00[CHB][hapmap]
rs27465	0.80[ASN][1000 genomes]
rs27466	0.82[CHB][hapmap]
rs27467	1.00[CHB][hapmap]
rs27468	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs27469	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs27627	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs282550	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs282551	0.80[ASN][1000 genomes]
rs282552	0.80[ASN][1000 genomes]
rs282553	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs282557	0.88[ASN][1000 genomes]
rs282561	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs28505342	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28711235	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs32376	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs32404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs32425	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs3763367	0.84[ASN][1000 genomes]
rs39613	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs39949	0.80[ASN][1000 genomes]
rs42284	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs4865628	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs57079776	0.84[ASN][1000 genomes]
rs62366937	0.88[ASN][1000 genomes]
rs6872496	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6890519	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6890869	1.00[CHB][hapmap]
rs73097023	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73101028	0.88[ASN][1000 genomes]
rs73101075	0.91[ASN][1000 genomes]
rs7728126	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS 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 lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1030068	chr5:49986171-50047352	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv537760	chr5:49986171-50047352	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1016237	chr5:49986171-50118816	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv537761	chr5:49986171-50118816	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv462160	chr5:49988020-50058043	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv598109	chr5:49988020-50058043	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598110	chr5:49988020-50089919	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv598112	chr5:49989701-50062611	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv462163	chr5:49989701-50088317	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv598113	chr5:49989701-50088317	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv598114	chr5:49991561-50088317	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv462164	chr5:50017724-50063035	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv598115	chr5:50017724-50063035	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50035000-50041400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:50038600-50041400	Enhancers	Fetal Thymus	thymus
3	chr5:50038800-50041800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:50039200-50041400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr5:50039200-50067200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:50039400-50042600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:50039600-50041400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:50040000-50041400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr5:50040000-50041600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:50040000-50041800	Enhancers	Small Intestine	intestine
11	chr5:50040000-50069200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:50040200-50041400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:50040200-50041400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:50040200-50041400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:50040400-50041400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:50040400-50041400	Active TSS	Aorta	Aorta
17	chr5:50040400-50041400	Active TSS	Stomach Smooth Muscle	stomach
18	chr5:50040400-50059600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:50040600-50041400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:50040600-50041400	Active TSS	Hela-S3	cervix
21	chr5:50040600-50041600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:50040600-50042000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:50040600-50042200	Enhancers	Fetal Brain Male	brain
24	chr5:50040800-50041400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:50040800-50041400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr5:50040800-50041400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:50040800-50041600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr5:50040800-50041600	Active TSS	NHLF	lung
29	chr5:50040800-50041800	Enhancers	Colon Smooth Muscle	Colon
30	chr5:50041000-50041400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:50041000-50041400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:50041000-50041400	Enhancers	Primary T cells from cord blood	blood
33	chr5:50041000-50041400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:50041000-50041400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:50041000-50041400	Enhancers	Brain Anterior Caudate	brain
36	chr5:50041000-50041400	Enhancers	Brain Cingulate Gyrus	brain
37	chr5:50041000-50041400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr5:50041000-50041400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr5:50041000-50041400	Enhancers	Thymus	Thymus
40	chr5:50041000-50041600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:50041000-50041600	Enhancers	Primary B cells from peripheral blood	blood
42	chr5:50041000-50041600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr5:50041000-50041600	Enhancers	Liver	Liver
44	chr5:50041000-50041600	Weak transcription	Ovary	ovary
45	chr5:50041000-50041600	Flanking Active TSS	Dnd41	blood
46	chr5:50041000-50041800	Strong transcription	Primary B cells from cord blood	blood
47	chr5:50041000-50041800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:50041000-50041800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:50041000-50041800	Enhancers	Fetal Muscle Leg	muscle
50	chr5:50041000-50041800	Enhancers	Stomach Mucosa	stomach

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