Variant report

Variant	rs530177942
Chromosome Location	chr5:49975963-49975964
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49973996..49976524-chr5:49985360..49987243,2	MCF-7	breast:
2	chr5:49970649..49973265-chr5:49975299..49977722,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	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
13	nsv965013	chr5:49975820-49980983	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
4	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
6	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
8	chr5:49965600-49976400	Weak transcription	HMEC	breast
9	chr5:49965800-49976000	Weak transcription	Fetal Lung	lung
10	chr5:49965800-49976000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:49965800-49982000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:49965800-49983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:49968400-49977600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:49968600-49976000	Weak transcription	Fetal Stomach	stomach
15	chr5:49968800-49990400	Weak transcription	Small Intestine	intestine
16	chr5:49969000-49980400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:49970200-49977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:49970400-49976200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:49970400-49976200	Weak transcription	Osteobl	bone
20	chr5:49970400-49977800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:49970400-49979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:49970600-49982600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:49970600-49982600	Weak transcription	Aorta	Aorta
24	chr5:49970800-49976400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:49970800-49978000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:49970800-49979800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:49971400-49980200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:49971600-49978600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:49971600-49982000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:49972000-49978200	Enhancers	Primary T cells from cord blood	blood
31	chr5:49972600-49980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:49973200-49976600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:49973200-49976800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:49973200-49979200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:49973400-49976600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:49973600-49976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:49974000-49976600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:49974200-49976400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:49974200-49977000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:49974200-49979400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:49974400-49976000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr5:49974400-49976200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:49974600-49976600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:49974600-49977200	Enhancers	Dnd41	blood
45	chr5:49974600-49978200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:49975000-49976000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:49975000-49979000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:49975200-49976600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:49975200-49980600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:49975400-49976000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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