Variant report

Variant	rs11882103
Chromosome Location	chr19:42725381-42725382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42725176-42725490	K562	blood:	n/a	n/a
2	MXI1	chr19:42723724-42725480	SK-N-SH	brain:	n/a	n/a
3	HEY1	chr19:42723919-42725457	K562	blood:	n/a	n/a
4	POLR2A	chr19:42720863-42725728	HepG2	liver:	n/a	n/a
5	TCF12	chr19:42723661-42725430	A549	lung:	n/a	chr19:42724514-42724524
6	POLR2A	chr19:42723706-42727638	PFSK-1	brain:	n/a	n/a
7	MAZ	chr19:42723767-42725450	IMR90	lung:	n/a	chr19:42724316-42724326

No.	Distal block	Cell Line	Cell type
1	chr19:42721143..42723529-chr19:42724223..42726542,2	MCF-7	breast:
2	chr19:42724704..42726606-chr19:42754008..42756562,2	MCF-7	breast:
3	chr19:42722142..42727268-chr19:42743805..42748670,12	MCF-7	breast:
4	chr19:42719158..42725942-chr19:42744280..42751391,14	MCF-7	breast:

Variant related genes	Relation type
DEDD2	TF binding region
ENSG00000204957	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000105723	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11878811	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11878959	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11882606	1.00[EUR][1000 genomes]
rs11883099	1.00[EUR][1000 genomes]
rs11883406	1.00[CEU][hapmap]
rs3745231	0.88[AFR][1000 genomes]
rs59099214	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	nsv961292	chr19:42710814-42734591	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42723600-42725400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:42723600-42725800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:42723800-42725400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:42723800-42725400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr19:42723800-42725400	Active TSS	Aorta	Aorta
6	chr19:42723800-42725400	Active TSS	Psoas Muscle	Psoas
7	chr19:42723800-42725600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:42723800-42726000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:42724000-42725400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:42724000-42725400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:42724000-42725400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:42724000-42725600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:42724000-42725600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:42724000-42725600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr19:42724000-42725600	Active TSS	Lung	lung
16	chr19:42724000-42725600	Active TSS	NHLF	lung
17	chr19:42724000-42726000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:42724200-42725400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:42724200-42725400	Active TSS	Brain Germinal Matrix	brain
20	chr19:42724200-42725600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:42724200-42725600	Active TSS	NHDF-Ad	bronchial
22	chr19:42724200-42726200	Active TSS	HSMMtube	muscle
23	chr19:42724200-42726600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:42724600-42725400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:42724600-42725400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr19:42724600-42725400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr19:42724600-42725400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr19:42724600-42725400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:42724600-42725400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:42724600-42725400	Flanking Active TSS	Liver	Liver
31	chr19:42724600-42725600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr19:42724600-42725600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr19:42724800-42725400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr19:42724800-42725400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:42724800-42725400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:42724800-42725400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr19:42724800-42725400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr19:42724800-42725400	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr19:42724800-42725400	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr19:42724800-42725400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr19:42724800-42725400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr19:42724800-42725400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr19:42724800-42725400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr19:42724800-42725400	Flanking Active TSS	Placenta	Placenta
45	chr19:42724800-42725400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
46	chr19:42724800-42725400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:42724800-42725400	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr19:42724800-42725400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr19:42724800-42725400	Flanking Active TSS	Thymus	Thymus
50	chr19:42724800-42725400	Flanking Active TSS	HUVEC	blood vessel

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