Variant report

Variant	rs2240932
Chromosome Location	chr19:44103010-44103011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44102946-44104534	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44077678..44083171-chr19:44093489..44103015,14	K562	blood:
2	chr19:44077687..44082496-chr19:44098234..44103069,7	MCF-7	breast:
3	chr19:44102595..44104228-chr19:44122295..44124088,2	MCF-7	breast:
4	chr19:44098671..44105555-chr19:44121892..44125342,15	MCF-7	breast:
5	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
6	chr19:44097777..44104240-chr19:44121602..44130880,30	K562	blood:
7	chr19:44101670..44103492-chr19:44107059..44108577,2	MCF-7	breast:
8	chr19:44100992..44104093-chr19:44119148..44120939,3	K562	blood:
9	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
10	chr19:44101681..44103493-chr19:44106654..44108776,2	K562	blood:

No data

Variant related genes	Relation type
IRGQ	TF binding region
ENSG00000269583	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000105767	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs25483	1.00[AMR][1000 genomes]
rs4251921	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44101600-44103600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44101600-44112000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:44101800-44103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:44101800-44103800	Weak transcription	Right Atrium	heart
5	chr19:44101800-44109400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:44101800-44111600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:44101800-44123200	Weak transcription	Small Intestine	intestine
8	chr19:44102000-44122600	Weak transcription	Fetal Kidney	kidney
9	chr19:44102200-44103200	Weak transcription	HSMM	muscle
10	chr19:44102200-44103400	Genic enhancers	Brain Angular Gyrus	brain
11	chr19:44102200-44103800	Weak transcription	Brain Substantia Nigra	brain
12	chr19:44102200-44111000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:44102200-44111200	Strong transcription	Fetal Muscle Leg	muscle
14	chr19:44102200-44113600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:44102200-44114200	Weak transcription	NH-A	brain
16	chr19:44102200-44114600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:44102200-44122600	Weak transcription	Psoas Muscle	Psoas
18	chr19:44102400-44103200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:44102400-44103200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr19:44102400-44103200	Weak transcription	HepG2	liver
21	chr19:44102400-44103400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr19:44102400-44103800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:44102400-44105000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:44102400-44105400	Weak transcription	Fetal Heart	heart
25	chr19:44102400-44106000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:44102400-44106200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr19:44102400-44107200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:44102400-44107400	Strong transcription	Primary T cells from cord blood	blood
29	chr19:44102400-44107400	Strong transcription	Placenta	Placenta
30	chr19:44102400-44109600	Weak transcription	Fetal Brain Male	brain
31	chr19:44102400-44110800	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:44102400-44119600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:44102400-44122600	Weak transcription	NHDF-Ad	bronchial
34	chr19:44102600-44103200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:44102600-44103200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:44102600-44103400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:44102600-44103800	Strong transcription	Brain Cingulate Gyrus	brain
38	chr19:44102600-44104000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr19:44102600-44104000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:44102600-44104000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:44102600-44104000	Strong transcription	NHLF	lung
42	chr19:44102600-44104600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr19:44102600-44104600	Genic enhancers	Brain Inferior Temporal Lobe	brain
44	chr19:44102600-44104600	Strong transcription	Esophagus	oesophagus
45	chr19:44102600-44105200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:44102600-44105400	Weak transcription	Primary B cells from cord blood	blood
47	chr19:44102600-44105800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:44102600-44105800	Strong transcription	Brain Germinal Matrix	brain
49	chr19:44102600-44106000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:44102600-44106000	Strong transcription	Fetal Lung	lung

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