Variant report

Variant	rs2303694
Chromosome Location	chr19:18562438-18562439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18559409-18562685	K562	blood:	n/a	n/a
2	POLR2A	chr19:18562433-18562444	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18551055..18551776-chr19:18561824..18562658,2	MCF-7	breast:
2	chr19:18550282..18552478-chr19:18560727..18563177,3	K562	blood:
3	chr19:18561664..18562616-chr19:18696886..18697655,2	MCF-7	breast:
4	chr19:18562199..18564627-chr19:18631303..18633445,2	MCF-7	breast:
5	chr19:18562074..18564464-chr19:18567601..18569747,2	K562	blood:
6	chr19:18529108..18532626-chr19:18559227..18562569,3	MCF-7	breast:
7	chr19:18561436..18562624-chr19:18572175..18573129,4	K562	blood:
8	chr19:18561406..18562774-chr19:18571386..18573287,9	MCF-7	breast:
9	chr19:18561844..18563565-chr19:18565872..18567885,2	MCF-7	breast:

No data

Variant related genes	Relation type
ELL	TF binding region
ENSG00000130511	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000268199	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs187957	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303693	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314670	0.86[ASN][1000 genomes]
rs3746176	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246328	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7251067	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101992	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8102195	0.87[ASN][1000 genomes]
rs8103520	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107222	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
5	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18545200-18570000	Weak transcription	Small Intestine	intestine
2	chr19:18549200-18566200	Weak transcription	HUVEC	blood vessel
3	chr19:18549800-18567000	Weak transcription	Psoas Muscle	Psoas
4	chr19:18550800-18569800	Weak transcription	Right Atrium	heart
5	chr19:18551600-18570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:18553400-18563600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:18553400-18564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:18553400-18564800	Strong transcription	Lung	lung
9	chr19:18553400-18579000	Weak transcription	Fetal Kidney	kidney
10	chr19:18553600-18564200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:18553600-18564200	Strong transcription	NHEK	skin
12	chr19:18553600-18565000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr19:18553800-18563000	Strong transcription	Esophagus	oesophagus
14	chr19:18553800-18563000	Strong transcription	Thymus	Thymus
15	chr19:18553800-18565000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:18553800-18565400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr19:18553800-18578000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:18554000-18563400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:18554000-18577600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:18554200-18563200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:18554200-18563600	Strong transcription	Fetal Brain Female	brain
22	chr19:18554200-18563600	Strong transcription	Dnd41	blood
23	chr19:18554200-18564000	Strong transcription	Primary T cells from cord blood	blood
24	chr19:18554200-18565000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:18554400-18562600	Strong transcription	Aorta	Aorta
26	chr19:18554400-18562800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:18554400-18563000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:18554400-18563200	Strong transcription	Brain Anterior Caudate	brain
29	chr19:18554400-18563600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:18554600-18563000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:18556000-18563600	Genic enhancers	Fetal Muscle Leg	muscle
32	chr19:18556800-18574800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:18557000-18563800	Strong transcription	Primary B cells from cord blood	blood
34	chr19:18557200-18563400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr19:18557600-18569000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:18558600-18562800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:18559200-18568600	Weak transcription	K562	blood
38	chr19:18559400-18568600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr19:18559600-18563600	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr19:18559800-18562600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:18560400-18567000	Weak transcription	HSMM	muscle
42	chr19:18560800-18562600	Genic enhancers	Right Ventricle	heart
43	chr19:18560800-18562800	Weak transcription	HSMMtube	muscle
44	chr19:18560800-18563600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr19:18561000-18566000	Genic enhancers	Placenta	Placenta
46	chr19:18561200-18564600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr19:18561400-18563000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:18561400-18563000	Genic enhancers	Brain Hippocampus Middle	brain
49	chr19:18561400-18563000	Genic enhancers	Spleen	Spleen
50	chr19:18561400-18563200	Weak transcription	Primary hematopoietic stem cells	blood

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