Variant report

Variant	rs7257640
Chromosome Location	chr19:44143612-44143613
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	chr19:44142549..44145039-chr19:44172421..44174578,2	MCF-7	breast:
2	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
3	chr19:44121917..44126953-chr19:44140515..44144634,11	MCF-7	breast:
4	chr19:44122624..44125256-chr19:44141958..44145749,5	MCF-7	breast:
5	chr19:44143406..44146165-chr19:44170107..44174030,3	K562	blood:
6	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
7	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
8	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226763	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000269583	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs168310	1.00[ASN][1000 genomes]
rs16976597	0.80[EUR][1000 genomes]
rs2854497	1.00[ASN][1000 genomes]
rs3213316	1.00[ASN][1000 genomes]
rs3213321	1.00[ASN][1000 genomes]
rs3213322	1.00[ASN][1000 genomes]
rs3213348	1.00[ASN][1000 genomes]
rs34439296	1.00[ASN][1000 genomes]
rs34471331	1.00[ASN][1000 genomes]
rs346049	1.00[ASN][1000 genomes]
rs399300	1.00[ASN][1000 genomes]
rs4251895	1.00[ASN][1000 genomes]
rs4251915	1.00[ASN][1000 genomes]
rs56204051	1.00[ASN][1000 genomes]
rs57817750	1.00[ASN][1000 genomes]
rs60175550	1.00[ASN][1000 genomes]
rs60273962	1.00[ASN][1000 genomes]
rs60889018	1.00[ASN][1000 genomes]
rs73554667	1.00[ASN][1000 genomes]
rs73554679	1.00[ASN][1000 genomes]
rs73554696	1.00[ASN][1000 genomes]
rs73556565	1.00[ASN][1000 genomes]
rs73556581	1.00[ASN][1000 genomes]
rs8104645	1.00[ASN][1000 genomes]
rs8110767	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3324628	chr19:44142737-44145285	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv579852	chr19:44142771-44149449	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv11178	chr19:44142913-44144340	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3365982	chr19:44143062-44144960	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44141600-44144800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:44142600-44144200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:44142600-44145000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr19:44142800-44144200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:44142800-44145000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:44142800-44145000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:44143000-44143800	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr19:44143000-44144000	Enhancers	Liver	Liver
9	chr19:44143000-44144200	Bivalent/Poised TSS	HUVEC	blood vessel
10	chr19:44143000-44144400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr19:44143000-44144400	Active TSS	Brain Anterior Caudate	brain
12	chr19:44143000-44144400	Active TSS	Colon Smooth Muscle	Colon
13	chr19:44143000-44144400	Bivalent/Poised TSS	Fetal Stomach	stomach
14	chr19:44143000-44144600	Active TSS	Fetal Kidney	kidney
15	chr19:44143000-44144800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:44143000-44144800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr19:44143000-44144800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr19:44143000-44145000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr19:44143200-44143800	Flanking Bivalent TSS/Enh	Thymus	Thymus
22	chr19:44143200-44144200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:44143200-44144200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:44143200-44144200	Active TSS	Brain Germinal Matrix	brain
25	chr19:44143200-44144400	Active TSS	Brain Hippocampus Middle	brain
26	chr19:44143200-44144400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr19:44143200-44144400	Active TSS	Fetal Brain Female	brain
28	chr19:44143200-44144600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr19:44143200-44144600	Active TSS	Brain Angular Gyrus	brain
30	chr19:44143200-44144600	Active TSS	Brain Cingulate Gyrus	brain
31	chr19:44143200-44144800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:44143400-44143800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr19:44143400-44143800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:44143400-44143800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:44143400-44143800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr19:44143400-44143800	Flanking Active TSS	Ovary	ovary
37	chr19:44143400-44144000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:44143400-44144000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr19:44143400-44144000	Active TSS	Right Atrium	heart
40	chr19:44143400-44144200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr19:44143400-44144200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:44143400-44144200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:44143400-44144200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr19:44143400-44144200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:44143400-44144200	Active TSS	Brain Substantia Nigra	brain
46	chr19:44143400-44144200	Active TSS	Left Ventricle	heart
47	chr19:44143400-44144200	Enhancers	Lung	lung
48	chr19:44143400-44144200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr19:44143400-44144200	Enhancers	Spleen	Spleen
50	chr19:44143400-44144400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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