Variant report

Variant	rs73101028
Chromosome Location	chr5:50020986-50020987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50020188..50022113-chr5:50033665..50035934,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10035164	0.80[ASN][1000 genomes]
rs10036060	0.80[ASN][1000 genomes]
rs10039272	0.88[ASN][1000 genomes]
rs10044566	0.80[ASN][1000 genomes]
rs10051561	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10054381	0.80[ASN][1000 genomes]
rs10056836	0.80[ASN][1000 genomes]
rs10058388	0.84[ASN][1000 genomes]
rs10059085	0.88[ASN][1000 genomes]
rs10060850	0.80[ASN][1000 genomes]
rs10065432	0.88[ASN][1000 genomes]
rs10072398	0.88[ASN][1000 genomes]
rs10075034	0.80[ASN][1000 genomes]
rs10085036	0.80[ASN][1000 genomes]
rs13361410	0.80[ASN][1000 genomes]
rs28505342	0.88[ASN][1000 genomes]
rs28711235	0.88[ASN][1000 genomes]
rs32404	0.80[ASN][1000 genomes]
rs58695991	0.85[AFR][1000 genomes]
rs58797083	0.85[AFR][1000 genomes]
rs6450308	0.83[AFR][1000 genomes]
rs73097023	0.84[ASN][1000 genomes]
rs73099001	0.80[AFR][1000 genomes]
rs73101017	0.80[AFR][1000 genomes]
rs73101019	0.85[AFR][1000 genomes]
rs73101022	0.85[AFR][1000 genomes]
rs73101037	0.85[AFR][1000 genomes]
rs73101043	0.85[AFR][1000 genomes]
rs73101075	0.80[ASN][1000 genomes]
rs7710239	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv537759	chr5:49986171-50033616	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	nsv521214	chr5:49988020-50037381	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	nsv462162	chr5:49989701-50040778	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
21	nsv598111	chr5:49989701-50040778	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	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
23	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
24	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
25	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
26	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
27	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50007400-50022400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:50007400-50022400	Weak transcription	Gastric	stomach
3	chr5:50007800-50031000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:50009200-50023200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:50011400-50022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:50013800-50021800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:50013800-50022400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:50013800-50022400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:50014400-50036000	Weak transcription	Primary B cells from cord blood	blood
10	chr5:50016800-50022200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:50016800-50022400	Weak transcription	Pancreas	Pancrea
12	chr5:50016800-50025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:50016800-50025600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:50017000-50022400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:50017200-50022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:50017200-50022400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:50017600-50022400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:50018200-50022400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:50018200-50024000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:50018400-50022400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:50018600-50022400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:50018600-50022400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:50018800-50021400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:50018800-50021400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:50018800-50022200	Weak transcription	NHEK	skin
26	chr5:50018800-50022400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:50018800-50026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:50019000-50022400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:50019000-50025200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:50019400-50021800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:50020000-50021200	Weak transcription	Primary T cells from cord blood	blood
32	chr5:50020200-50021200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:50020200-50021400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:50020200-50021400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:50020600-50021800	Weak transcription	Small Intestine	intestine
36	chr5:50020800-50021200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:50020800-50021600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:50020800-50022200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:50020800-50022200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:50020800-50022200	Weak transcription	Brain Germinal Matrix	brain

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