Variant report

Variant	rs6450308
Chromosome Location	chr5:49965772-49965773
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	chr5:49965470..49967570-chr5:49976528..49979367,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58695991	0.97[AFR][1000 genomes]
rs58797083	0.97[AFR][1000 genomes]
rs6872889	0.94[AFR][1000 genomes]
rs73099001	0.97[AFR][1000 genomes]
rs73101017	0.97[AFR][1000 genomes]
rs73101019	0.97[AFR][1000 genomes]
rs73101022	0.97[AFR][1000 genomes]
rs73101028	0.83[AFR][1000 genomes]
rs73101037	0.97[AFR][1000 genomes]
rs73101043	0.97[AFR][1000 genomes]
rs73101056	0.83[AFR][1000 genomes]
rs7710239	0.94[AFR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49963400-49965800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:49963400-49965800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr5:49964200-49966400	Weak transcription	Psoas Muscle	Psoas
4	chr5:49964200-49968000	Weak transcription	Spleen	Spleen
5	chr5:49964400-49966000	Flanking Active TSS	Dnd41	blood
6	chr5:49964400-49967800	Weak transcription	Stomach Mucosa	stomach
7	chr5:49964400-49968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:49964400-49970000	Weak transcription	Aorta	Aorta
9	chr5:49964400-49975400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
13	chr5:49964600-49965800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr5:49964600-49965800	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr5:49964600-49965800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr5:49964600-49966000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr5:49964600-49966000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr5:49964600-49966200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:49964600-49966200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:49964600-49969000	Weak transcription	Osteobl	bone
21	chr5:49964800-49965800	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:49964800-49966800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:49964800-49967000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:49964800-49967000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr5:49964800-49967800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:49964800-49967800	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:49964800-49968000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:49964800-49968200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:49964800-49968200	Weak transcription	Fetal Stomach	stomach
30	chr5:49964800-49968800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:49964800-49969200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:49964800-49969200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:49964800-49970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
36	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
37	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
38	chr5:49965000-49965800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:49965000-49965800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:49965000-49965800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:49965000-49966800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:49965000-49967800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:49965000-49970200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr5:49965200-49965800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr5:49965200-49965800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr5:49965200-49965800	Enhancers	Duodenum Mucosa	Duodenum
47	chr5:49965200-49966000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr5:49965200-49966000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:49965400-49965800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:49965400-49967800	Weak transcription	Primary hematopoietic stem cells	blood

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