Variant report

Variant	rs10051561
Chromosome Location	chr5:49964761-49964762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49963990..49965571-chr5:49984249..49987060,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035164	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10036060	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10039272	1.00[ASN][1000 genomes]
rs10044566	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10054381	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10056836	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10058388	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10059085	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10060850	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[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10085036	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10755235	0.81[ASN][1000 genomes]
rs10940472	0.88[ASN][1000 genomes]
rs10940497	0.88[ASN][1000 genomes]
rs11750241	0.88[ASN][1000 genomes]
rs11750771	0.88[ASN][1000 genomes]
rs12188262	0.88[ASN][1000 genomes]
rs12188654	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[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	0.80[ASN][1000 genomes]
rs154138	0.80[ASN][1000 genomes]
rs154140	0.80[ASN][1000 genomes]
rs154141	0.80[ASN][1000 genomes]
rs16884018	0.84[ASN][1000 genomes]
rs169497	0.80[ASN][1000 genomes]
rs17195388	0.80[ASN][1000 genomes]
rs182230	0.88[ASN][1000 genomes]
rs2354525	0.87[ASN][1000 genomes]
rs2548581	0.80[ASN][1000 genomes]
rs2548582	0.80[ASN][1000 genomes]
rs256341	0.80[ASN][1000 genomes]
rs2594706	0.88[ASN][1000 genomes]
rs26062	0.80[ASN][1000 genomes]
rs26065	0.80[ASN][1000 genomes]
rs26069	0.80[ASN][1000 genomes]
rs26071	0.80[ASN][1000 genomes]
rs27254	0.80[ASN][1000 genomes]
rs27357	0.80[ASN][1000 genomes]
rs27465	0.80[ASN][1000 genomes]
rs27468	0.80[ASN][1000 genomes]
rs27469	0.80[ASN][1000 genomes]
rs27627	0.80[ASN][1000 genomes]
rs282550	0.80[ASN][1000 genomes]
rs282551	0.80[ASN][1000 genomes]
rs282552	0.80[ASN][1000 genomes]
rs282553	0.88[ASN][1000 genomes]
rs282557	0.88[ASN][1000 genomes]
rs282561	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	0.80[ASN][1000 genomes]
rs32404	0.91[ASN][1000 genomes]
rs32425	0.80[ASN][1000 genomes]
rs3763367	0.84[ASN][1000 genomes]
rs39613	0.80[ASN][1000 genomes]
rs39949	0.80[ASN][1000 genomes]
rs42284	0.80[ASN][1000 genomes]
rs4865628	0.88[ASN][1000 genomes]
rs57079776	0.84[ASN][1000 genomes]
rs62366937	0.88[ASN][1000 genomes]
rs6872496	0.88[ASN][1000 genomes]
rs6890519	0.88[ASN][1000 genomes]
rs73097023	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73101028	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73101075	0.91[ASN][1000 genomes]
rs7728126	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv818352	chr5:49958221-50017724	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv968172	chr5:49961360-49966431	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv968910	chr5:49961360-49980983	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49961600-49964800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr5:49961600-49964800	Active TSS	Duodenum Mucosa	Duodenum
3	chr5:49961600-49965200	Active TSS	GM12878-XiMat	blood
4	chr5:49961600-49965400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:49961800-49964800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:49961800-49964800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:49961800-49964800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:49961800-49964800	Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:49961800-49964800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:49961800-49964800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:49961800-49964800	Active TSS	Brain Angular Gyrus	brain
12	chr5:49961800-49964800	Active TSS	Brain Cingulate Gyrus	brain
13	chr5:49961800-49964800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:49961800-49964800	Active TSS	NHDF-Ad	bronchial
15	chr5:49961800-49964800	Active TSS	NHLF	lung
16	chr5:49961800-49965000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr5:49961800-49965000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:49961800-49965400	Active TSS	Thymus	Thymus
19	chr5:49961800-49965400	Active TSS	HMEC	breast
20	chr5:49962000-49964800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:49962000-49964800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:49962000-49964800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:49962000-49964800	Active TSS	Brain Anterior Caudate	brain
24	chr5:49962000-49965000	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr5:49962000-49965000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:49962000-49965200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:49962000-49965200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:49962200-49964800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:49962200-49964800	Active TSS	Brain Hippocampus Middle	brain
30	chr5:49962200-49965200	Active TSS	Primary T cells fromperipheralblood	blood
31	chr5:49962200-49965200	Active TSS	Stomach Smooth Muscle	stomach
32	chr5:49962400-49964800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr5:49962600-49964800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:49962600-49964800	Active TSS	Fetal Brain Male	brain
35	chr5:49963200-49964800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:49963400-49965600	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr5:49963400-49965800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:49963400-49965800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:49963600-49964800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:49963600-49965400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:49963800-49964800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:49963800-49964800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr5:49964000-49965200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr5:49964000-49965600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:49964200-49966400	Weak transcription	Psoas Muscle	Psoas
46	chr5:49964200-49968000	Weak transcription	Spleen	Spleen
47	chr5:49964400-49964800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:49964400-49964800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:49964400-49964800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:49964400-49964800	Flanking Active TSS	Fetal Stomach	stomach

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