Variant report

Variant	rs549124706
Chromosome Location	chr5:49736244-49736245
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	chr5:49731051..49732867-chr5:49733750..49736731,2	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	nsv1032003	chr5:49455624-49881491	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1023981	chr5:49584188-49871537	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv537757	chr5:49584188-49871537	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv916441	chr5:49584313-49831223	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	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
12	esv3418391	chr5:49734766-49740307	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3443771	chr5:49734989-49740073	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49720400-49736400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:49720400-49736400	Weak transcription	Spleen	Spleen
3	chr5:49727800-49736400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:49735000-49736400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:49735000-49738000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:49735200-49736400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:49735200-49736600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr5:49735200-49737400	Active TSS	HMEC	breast
9	chr5:49735200-49738200	Active TSS	Duodenum Mucosa	Duodenum
10	chr5:49735400-49737600	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr5:49735400-49737800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:49735600-49736800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr5:49735600-49737200	Active TSS	Primary T cells fromperipheralblood	blood
14	chr5:49735600-49737800	Active TSS	Thymus	Thymus
15	chr5:49735800-49736600	Active TSS	Adipose Nuclei	Adipose
16	chr5:49735800-49736800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:49735800-49737000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:49735800-49737000	Active TSS	GM12878-XiMat	blood
19	chr5:49735800-49737400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:49735800-49737400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:49735800-49737600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:49735800-49737600	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr5:49735800-49737600	Active TSS	Rectal Smooth Muscle	rectum
24	chr5:49735800-49737800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:49735800-49737800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:49735800-49738000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:49735800-49738000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr5:49736000-49736600	Active TSS	Brain Hippocampus Middle	brain
29	chr5:49736000-49736600	Active TSS	Right Atrium	heart
30	chr5:49736000-49736800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:49736000-49736800	Bivalent Enhancer	Fetal Brain Male	brain
32	chr5:49736000-49736800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr5:49736000-49737200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr5:49736000-49737200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
35	chr5:49736000-49737200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr5:49736000-49737400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:49736000-49737400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr5:49736000-49737400	Active TSS	Small Intestine	intestine
39	chr5:49736000-49737400	Active TSS	Stomach Mucosa	stomach
40	chr5:49736000-49737400	Active TSS	HSMM	muscle
41	chr5:49736000-49737600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:49736000-49737600	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr5:49736000-49737600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:49736000-49737600	Active TSS	Colonic Mucosa	Colon
45	chr5:49736000-49737600	Active TSS	Esophagus	oesophagus
46	chr5:49736000-49737800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr5:49736000-49737800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:49736000-49737800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:49736000-49737800	Active TSS	Fetal Intestine Small	intestine
50	chr5:49736000-49737800	Active TSS	Pancreatic Islets	Pancreatic Islet

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