Variant report

Variant	rs7249453
Chromosome Location	chr19:19098893-19098894
allele	A/T
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:11)
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	chr19:19098827-19099166	H1-neurons	neurons:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19094846..19096538-chr19:19098164..19100620,2	K562	blood:
2	chr19:19049878..19052587-chr19:19097016..19099654,4	MCF-7	breast:
3	chr19:19048490..19051471-chr19:19097448..19100408,2	K562	blood:
4	chr19:19096426..19099301-chr19:19099737..19102756,3	MCF-7	breast:
5	chr19:19097919..19099473-chr19:19231446..19233311,2	K562	blood:
6	chr19:19086874..19091371-chr19:19096444..19100736,4	K562	blood:
7	chr19:19096487..19099178-chr19:19102823..19104389,2	MCF-7	breast:
8	chr19:19031164..19034036-chr19:19094993..19099156,4	MCF-7	breast:
9	chr19:19039541..19041995-chr19:19096348..19099179,2	MCF-7	breast:
10	chr19:19028621..19032208-chr19:19096028..19099996,7	MCF-7	breast:
11	chr19:19038588..19040520-chr19:19096486..19099319,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269131	TF binding region
ENSG00000269019	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000269131	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1079543	0.86[YRI][hapmap]
rs11666340	0.96[YRI][hapmap]
rs11670204	0.97[YRI][hapmap]
rs11878368	0.83[AFR][1000 genomes]
rs12016	0.81[AFR][1000 genomes]
rs12975754	0.81[AFR][1000 genomes]
rs1859267	0.83[AFR][1000 genomes]
rs2269869	0.97[YRI][hapmap]
rs4808172	0.81[AFR][1000 genomes]
rs4808904	0.81[AFR][1000 genomes]
rs6511010	0.86[YRI][hapmap]
rs8109654	0.89[AFR][1000 genomes]
rs929215	0.83[YRI][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv2435	chr19:19077432-19122579	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19084200-19107800	Weak transcription	Right Atrium	heart
2	chr19:19094800-19099200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:19096200-19101600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:19096200-19104000	Weak transcription	Primary B cells from cord blood	blood
5	chr19:19096400-19100800	Weak transcription	Fetal Brain Female	brain
6	chr19:19096400-19101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:19096400-19102200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr19:19096400-19103400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:19096400-19103600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:19096600-19101400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:19096600-19103400	Weak transcription	NH-A	brain
12	chr19:19096800-19101200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:19096800-19102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:19096800-19104000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:19097000-19101800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:19097600-19100000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:19097600-19101000	Weak transcription	Spleen	Spleen
18	chr19:19097600-19101200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:19097600-19101800	Weak transcription	NHLF	lung
20	chr19:19097600-19102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:19097600-19102400	Weak transcription	Left Ventricle	heart
22	chr19:19097600-19103400	Weak transcription	HUVEC	blood vessel
23	chr19:19097600-19103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:19097800-19099400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:19097800-19100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:19097800-19101000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:19097800-19101200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:19097800-19101200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:19098000-19099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:19098000-19100200	Weak transcription	Adipose Nuclei	Adipose
31	chr19:19098000-19100200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:19098000-19100200	Weak transcription	Fetal Heart	heart
33	chr19:19098000-19100600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:19098000-19100600	Weak transcription	Fetal Intestine Large	intestine
35	chr19:19098000-19100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:19098000-19100800	Weak transcription	Fetal Lung	lung
37	chr19:19098000-19101000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:19098000-19101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:19098000-19101000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:19098000-19101000	Weak transcription	Brain Anterior Caudate	brain
41	chr19:19098000-19101000	Weak transcription	Brain Hippocampus Middle	brain
42	chr19:19098000-19101000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:19098000-19101000	Weak transcription	Lung	lung
44	chr19:19098000-19101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:19098000-19101200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:19098000-19101200	Weak transcription	Brain Substantia Nigra	brain
47	chr19:19098000-19101400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr19:19098000-19101400	Weak transcription	Liver	Liver
49	chr19:19098000-19101400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr19:19098000-19101400	Weak transcription	Monocytes-CD14+_RO01746	blood

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