Variant report

Variant	rs140221076
Chromosome Location	chr5:49995726-49995727
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	chr5:49963253..49964833-chr5:49994223..49996003,2	MCF-7	breast:
2	chr5:49995029..49996581-chr5:50034174..50037169,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151883	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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	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
27	nsv964769	chr5:49994526-49997944	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49976800-50000000	Weak transcription	Fetal Stomach	stomach
2	chr5:49979400-50006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:49982800-49997000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:49983000-49998800	Weak transcription	Lung	lung
5	chr5:49983400-50006800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:49986000-50006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:49987600-50001600	Weak transcription	Dnd41	blood
8	chr5:49987800-49998200	Weak transcription	Primary B cells from cord blood	blood
9	chr5:49987800-49998800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:49989000-49997600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:49989200-49998000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:49990800-49998600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:49990800-49998600	Weak transcription	Spleen	Spleen
14	chr5:49991200-49998600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:49991200-50007200	Weak transcription	Pancreas	Pancrea
16	chr5:49991400-49998200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:49991400-50006400	Weak transcription	Fetal Intestine Small	intestine
18	chr5:49993000-49996600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:49993600-49999200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:49993800-49997200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:49993800-50000800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:49993800-50006800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:49994000-49998200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:49994400-49996800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:49994800-49995800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:49994800-49995800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:49994800-49996600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:49995000-49995800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:49995000-49995800	Enhancers	Thymus	Thymus
30	chr5:49995000-49997000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:49995000-49997200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:49995200-49995800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:49995200-49995800	Genic enhancers	NHEK	skin
34	chr5:49995200-49996000	Weak transcription	Primary T cells from cord blood	blood
35	chr5:49995400-49995800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:49995400-49996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:49995400-49998400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:49995400-49999600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr5:49995400-50005200	Weak transcription	HMEC	breast
40	chr5:49995600-49995800	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr5:49995600-49995800	Enhancers	NHDF-Ad	bronchial
42	chr5:49995600-49996000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:49995600-49996800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:49995600-49997600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:49995600-49998200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr5:49995600-49998400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:49995600-49998600	Weak transcription	GM12878-XiMat	blood

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