Variant report

Variant	rs573656673
Chromosome Location	chr5:49987218-49987219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49979801..49982370-chr5:49986606..49988193,2	MCF-7	breast:
2	chr5:49986640..49989197-chr5:50027826..50030637,2	MCF-7	breast:
3	chr5:49973996..49976524-chr5:49985360..49987243,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
13	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
14	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
15	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
16	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
17	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49968800-49990400	Weak transcription	Small Intestine	intestine
2	chr5:49976800-50000000	Weak transcription	Fetal Stomach	stomach
3	chr5:49977800-49990600	Weak transcription	Pancreas	Pancrea
4	chr5:49978200-49995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:49979000-49995200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:49979400-50006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:49980800-49995000	Weak transcription	Thymus	Thymus
8	chr5:49981400-49992600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:49982600-49987800	Strong transcription	Primary B cells from cord blood	blood
10	chr5:49982600-49992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:49982800-49997000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:49983000-49988000	Weak transcription	Fetal Thymus	thymus
13	chr5:49983000-49998800	Weak transcription	Lung	lung
14	chr5:49983200-49994200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:49983400-50006800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:49984000-49988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:49984200-49988200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:49984200-49988600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:49984800-49989000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr5:49985200-49987600	Genic enhancers	Primary T cells from cord blood	blood
21	chr5:49985200-49987800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:49985600-49987800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:49985800-49987600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:49985800-49987800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:49985800-49988000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:49986000-49987800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:49986000-49988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:49986000-50006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:49986600-49988000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:49986600-49988400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:49986800-49987400	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr5:49986800-49987400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:49986800-49987400	Genic enhancers	GM12878-XiMat	blood
34	chr5:49986800-49987600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:49986800-49987800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:49986800-49988000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:49986800-49989800	Weak transcription	Fetal Intestine Large	intestine
38	chr5:49987000-49987400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr5:49987000-49987400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:49987000-49987400	Weak transcription	Dnd41	blood
41	chr5:49987000-49987600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:49987000-49988800	Weak transcription	HMEC	breast
43	chr5:49987000-49989400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:49987200-49987400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:49987200-49987600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:49987200-49987600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:49987200-49987800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:49987200-49988000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:49987200-49989800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:49987200-49993200	Enhancers	Primary T helper cells PMA-I stimulated	--

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