Variant report

Variant	rs546116626
Chromosome Location	chr5:49968677-49968678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49966970..49969642-chr5:50045524..50047649,2	MCF-7	breast:
2	chr5:49962787..49964612-chr5:49967934..49969609,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151883	Chromatin interaction

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	nsv980791	chr5:49968246-49975820	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964400-49970000	Weak transcription	Aorta	Aorta
2	chr5:49964400-49975400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
6	chr5:49964600-49969000	Weak transcription	Osteobl	bone
7	chr5:49964800-49968800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:49964800-49969200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:49964800-49969200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:49964800-49970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
13	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
14	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
15	chr5:49965000-49970200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:49965400-49969400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:49965600-49976400	Weak transcription	HMEC	breast
18	chr5:49965800-49969800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:49965800-49973400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:49965800-49973800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:49965800-49976000	Weak transcription	Fetal Lung	lung
22	chr5:49965800-49976000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:49965800-49982000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:49965800-49983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:49966000-49969800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:49966000-49970400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:49966000-49975400	Weak transcription	NHEK	skin
28	chr5:49967000-49969000	Genic enhancers	Primary T cells from cord blood	blood
29	chr5:49967600-49969000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:49967600-49969400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:49967600-49970200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:49967800-49968800	Genic enhancers	Primary B cells from cord blood	blood
33	chr5:49967800-49968800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr5:49967800-49970200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:49967800-49970200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:49967800-49970200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr5:49968000-49968800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:49968000-49969000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:49968000-49970600	Enhancers	Primary B cells from peripheral blood	blood
40	chr5:49968200-49969400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:49968200-49969400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:49968200-49970400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:49968400-49968800	Enhancers	Small Intestine	intestine
44	chr5:49968400-49968800	Enhancers	Spleen	Spleen
45	chr5:49968400-49969400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:49968400-49969400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:49968400-49969600	Enhancers	Colon Smooth Muscle	Colon
48	chr5:49968400-49970600	Enhancers	Dnd41	blood
49	chr5:49968400-49971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:49968400-49972000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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