Variant report

Variant	rs2682583
Chromosome Location	chr19:43967692-43967693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:43965066..43971111-chr19:44006791..44009897,14	MCF-7	breast:
2	chr19:43967204..43969877-chr19:44006593..44010322,9	MCF-7	breast:
3	chr19:43967550..43968088-chr8:37962745..37963292,2	Hela-S3	cervix:
4	chr19:43964006..43968075-chr19:43982623..43986349,3	MCF-7	breast:
5	chr19:43966525..43969059-chr19:44008556..44010178,2	K562	blood:
6	chr19:43967559..43969177-chr19:44122484..44124753,2	K562	blood:
7	chr19:43857729..43859549-chr19:43967499..43969532,2	MCF-7	breast:
8	chr19:43966113..43971089-chr19:44005040..44010546,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204936	Chromatin interaction
ENSG00000176531	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000129691	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11668793	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2260164	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599433	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599434	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599438	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599441	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599442	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2682568	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682582	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35107209	0.91[ASN][1000 genomes]
rs57029828	0.89[ASN][1000 genomes]
rs60027199	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv2501	chr19:43942581-43978424	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 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	chr19:43966600-43968600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:43966600-43968600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:43966800-43967800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:43966800-43968200	Active TSS	Stomach Smooth Muscle	stomach
5	chr19:43966800-43968600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr19:43966800-43968600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:43966800-43969000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr19:43967000-43967800	Active TSS	Primary B cells from cord blood	blood
9	chr19:43967000-43968000	Active TSS	Brain Hippocampus Middle	brain
10	chr19:43967000-43968000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr19:43967000-43968000	Active TSS	Fetal Brain Female	brain
12	chr19:43967000-43968000	Active TSS	Pancreas	Pancrea
13	chr19:43967000-43968200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:43967000-43968200	Active TSS	Fetal Heart	heart
15	chr19:43967000-43968400	Active TSS	NHLF	lung
16	chr19:43967000-43968600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr19:43967000-43968600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:43967000-43968600	Active TSS	Brain Cingulate Gyrus	brain
19	chr19:43967000-43968600	Active TSS	Fetal Kidney	kidney
20	chr19:43967000-43968600	Active TSS	Rectal Smooth Muscle	rectum
21	chr19:43967000-43968600	Active TSS	A549	lung
22	chr19:43967000-43968800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:43967000-43968800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:43967000-43968800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:43967000-43968800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr19:43967000-43969000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr19:43967000-43969000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:43967000-43969000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr19:43967200-43967800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:43967200-43967800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr19:43967200-43968000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr19:43967200-43968000	Active TSS	Lung	lung
33	chr19:43967200-43968200	Active TSS	Left Ventricle	heart
34	chr19:43967200-43968200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr19:43967200-43968400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:43967200-43968400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr19:43967200-43968400	Active TSS	Gastric	stomach
38	chr19:43967200-43968400	Active TSS	Right Atrium	heart
39	chr19:43967200-43968600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr19:43967200-43968600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:43967200-43968600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr19:43967200-43968600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr19:43967200-43968600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:43967200-43968600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr19:43967200-43968600	Active TSS	Aorta	Aorta
46	chr19:43967200-43968600	Active TSS	Colon Smooth Muscle	Colon
47	chr19:43967200-43968600	Active TSS	Fetal Lung	lung
48	chr19:43967200-43968600	Flanking Active TSS	Fetal Thymus	thymus
49	chr19:43967200-43968600	Active TSS	HSMM	muscle
50	chr19:43967200-43968600	Active TSS	HSMMtube	muscle

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