Variant report

Variant	rs73101017
Chromosome Location	chr5:50007015-50007016
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	chr5:50006825..50008981-chr5:50044133..50046032,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58695991	0.94[AFR][1000 genomes]
rs58797083	0.94[AFR][1000 genomes]
rs6450308	0.97[AFR][1000 genomes]
rs6872889	0.97[AFR][1000 genomes]
rs73099001	1.00[AFR][1000 genomes]
rs73101019	0.94[AFR][1000 genomes]
rs73101022	0.94[AFR][1000 genomes]
rs73101028	0.80[AFR][1000 genomes]
rs73101037	0.94[AFR][1000 genomes]
rs73101043	0.94[AFR][1000 genomes]
rs73101056	0.86[AFR][1000 genomes]
rs7710239	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49991200-50007200	Weak transcription	Pancreas	Pancrea
2	chr5:49995800-50011000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:50005600-50010600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:50005800-50007200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:50006000-50008600	Enhancers	Fetal Heart	heart
6	chr5:50006200-50013600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:50006400-50007800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr5:50006400-50007800	Enhancers	Fetal Intestine Small	intestine
9	chr5:50006400-50008600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:50006400-50008600	Flanking Active TSS	Dnd41	blood
11	chr5:50006400-50008800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:50006600-50007200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:50006600-50007400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:50006600-50007400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:50006600-50007600	Enhancers	Colon Smooth Muscle	Colon
16	chr5:50006600-50007800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr5:50006600-50007800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:50006600-50007800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:50006600-50008000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr5:50006600-50008800	Flanking Active TSS	GM12878-XiMat	blood
21	chr5:50006800-50007200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:50006800-50007200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:50006800-50007200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr5:50006800-50007200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:50006800-50007200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr5:50006800-50007200	Enhancers	Brain Substantia Nigra	brain
27	chr5:50006800-50007200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr5:50006800-50007400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:50006800-50007400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:50006800-50007400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:50006800-50007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:50006800-50007400	Enhancers	Brain Hippocampus Middle	brain
33	chr5:50006800-50007400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr5:50006800-50007400	Enhancers	HSMM	muscle
35	chr5:50006800-50007600	Active TSS	Primary T cells fromperipheralblood	blood
36	chr5:50006800-50007600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr5:50006800-50007600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr5:50006800-50007600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr5:50006800-50007600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:50006800-50007600	Enhancers	Stomach Mucosa	stomach
41	chr5:50006800-50007600	Enhancers	NHEK	skin
42	chr5:50006800-50007800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:50006800-50007800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:50006800-50007800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:50006800-50007800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:50007000-50007200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr5:50007000-50007200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:50007000-50007200	Active TSS	Brain Anterior Caudate	brain
49	chr5:50007000-50007200	Flanking Active TSS	Fetal Thymus	thymus
50	chr5:50007000-50007200	Active TSS	Psoas Muscle	Psoas

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