Variant report

Variant	rs2722740
Chromosome Location	chr19:44860537-44860538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44860226..44861181-chr2:133104577..133105347,5	HCT-116	colon:
2	chr19:44859033..44861169-chr2:133104533..133106354,2	K562	blood:
3	chr19:44716323..44716954-chr19:44860163..44860822,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131115	Chromatin interaction
ENSG00000272769	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1233441	0.83[CEU][hapmap]
rs1233444	0.82[CEU][hapmap]
rs1233459	0.84[CEU][hapmap]
rs1233470	0.84[CEU][hapmap]
rs1582	0.87[CEU][hapmap]
rs2571062	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2571063	0.83[AFR][1000 genomes]
rs2571065	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2571101	0.87[CEU][hapmap]
rs2571102	0.87[CEU][hapmap];0.93[YRI][hapmap]
rs2609874	0.83[CEU][hapmap]
rs2609875	0.83[CEU][hapmap]
rs2722737	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2722751	0.84[CEU][hapmap]

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	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv963093	chr19:44850276-44876742	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv912111	chr19:44852134-44902190	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS 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
5	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv579856	chr19:44855757-44899820	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv912113	chr19:44858776-44928885	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS 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
9	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44859600-44861000	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:44859600-44862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:44859600-44862000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:44859600-44862000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:44859800-44860600	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr19:44859800-44860800	Flanking Active TSS	Liver	Liver
7	chr19:44859800-44861000	Active TSS	NHLF	lung
8	chr19:44859800-44861400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:44859800-44861400	Active TSS	Fetal Brain Male	brain
10	chr19:44859800-44861600	Active TSS	Muscle Satellite Cultured Cells	--
11	chr19:44859800-44861600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:44859800-44861600	Active TSS	Fetal Brain Female	brain
13	chr19:44859800-44861600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr19:44859800-44861600	Active TSS	Fetal Lung	lung
15	chr19:44859800-44861800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:44859800-44861800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:44859800-44861800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:44859800-44861800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:44859800-44861800	Active TSS	Stomach Smooth Muscle	stomach
20	chr19:44859800-44862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr19:44859800-44862000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:44859800-44862000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:44859800-44862000	Active TSS	Hela-S3	cervix
24	chr19:44859800-44862800	Active TSS	A549	lung
25	chr19:44860000-44861200	Active TSS	Rectal Smooth Muscle	rectum
26	chr19:44860000-44861400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr19:44860000-44861400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:44860000-44861400	Active TSS	Brain Germinal Matrix	brain
29	chr19:44860000-44861600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:44860000-44861600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:44860000-44861600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr19:44860000-44861800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr19:44860000-44861800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:44860000-44861800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:44860000-44861800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:44860000-44861800	Active TSS	Fetal Kidney	kidney
37	chr19:44860000-44861800	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr19:44860000-44861800	Active TSS	Right Atrium	heart
39	chr19:44860000-44861800	Active TSS	Right Ventricle	heart
40	chr19:44860000-44861800	Active TSS	HSMMtube	muscle
41	chr19:44860000-44862000	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr19:44860200-44861000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:44860200-44861200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr19:44860200-44861200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:44860200-44861200	Active TSS	HUVEC	blood vessel
46	chr19:44860200-44861200	Active TSS	NHEK	skin
47	chr19:44860200-44861400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:44860200-44861400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:44860200-44861400	Active TSS	Fetal Intestine Large	intestine
50	chr19:44860200-44861400	Active TSS	Ovary	ovary

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