Variant report

Variant	rs113326341
Chromosome Location	chr19:44143476-44143477
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr19:44141422..44143480-chr19:44195245..44198092,2	K562	blood:
6	chr19:44143406..44146165-chr19:44170107..44174030,3	K562	blood:
7	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
8	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
9	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:
10	chr19:44140278..44143480-chr19:44195245..44198704,3	K562	blood:

No data

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:114 , 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	chr19:44142200-44143600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:44142200-44143600	Bivalent Enhancer	Fetal Thymus	thymus
4	chr19:44142600-44143600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr19:44142600-44143600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
6	chr19:44142600-44143600	Flanking Active TSS	HepG2	liver
7	chr19:44142600-44144200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:44142600-44145000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr19:44142800-44143600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr19:44142800-44144200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:44142800-44145000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr19:44142800-44145000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:44143000-44143600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:44143000-44143600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
15	chr19:44143000-44143600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:44143000-44143600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr19:44143000-44143600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr19:44143000-44143600	Bivalent Enhancer	Placenta	Placenta
19	chr19:44143000-44143600	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr19:44143000-44143600	Flanking Bivalent TSS/Enh	Dnd41	blood
21	chr19:44143000-44143600	Bivalent/Poised TSS	HSMMtube	muscle
22	chr19:44143000-44143800	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr19:44143000-44144000	Enhancers	Liver	Liver
24	chr19:44143000-44144200	Bivalent/Poised TSS	HUVEC	blood vessel
25	chr19:44143000-44144400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr19:44143000-44144400	Active TSS	Brain Anterior Caudate	brain
27	chr19:44143000-44144400	Active TSS	Colon Smooth Muscle	Colon
28	chr19:44143000-44144400	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr19:44143000-44144600	Active TSS	Fetal Kidney	kidney
30	chr19:44143000-44144800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:44143000-44144800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr19:44143000-44144800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr19:44143000-44145000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:44143200-44143600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:44143200-44143600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:44143200-44143600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:44143200-44143600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr19:44143200-44143600	Flanking Active TSS	Gastric	stomach
41	chr19:44143200-44143600	Flanking Active TSS	Pancreas	Pancrea
42	chr19:44143200-44143600	Flanking Bivalent TSS/Enh	A549	lung
43	chr19:44143200-44143600	Bivalent/Poised TSS	Hela-S3	cervix
44	chr19:44143200-44143600	Flanking Bivalent TSS/Enh	HMEC	breast
45	chr19:44143200-44143600	Flanking Bivalent TSS/Enh	K562	blood
46	chr19:44143200-44143800	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr19:44143200-44144200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:44143200-44144200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:44143200-44144200	Active TSS	Brain Germinal Matrix	brain
50	chr19:44143200-44144400	Active TSS	Brain Hippocampus Middle	brain

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