Variant report

Variant	rs17725124
Chromosome Location	chr19:44086301-44086302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr19:44083900-44086327	SK-N-SH	brain:	n/a	chr19:44084081-44084088

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44080117..44083864-chr19:44085399..44088767,4	K562	blood:

Variant related genes	Relation type
XRCC1	TF binding region
ENSG00000234465	Chromatin interaction
ENSG00000073050	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1799782	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2293036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs25478	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3213277	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3213344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3213376	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3213403	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1063149	chr19:44059081-44087583	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44079800-44098200	Weak transcription	Small Intestine	intestine
2	chr19:44080400-44090200	Weak transcription	HSMM	muscle
3	chr19:44080600-44090800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:44080600-44095600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:44080800-44088400	Weak transcription	A549	lung
6	chr19:44081400-44090200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:44081400-44090200	Weak transcription	NHEK	skin
8	chr19:44081600-44090600	Weak transcription	HMEC	breast
9	chr19:44083000-44087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:44084400-44086800	Enhancers	Spleen	Spleen
11	chr19:44084600-44086400	Enhancers	K562	blood
12	chr19:44084600-44088200	Weak transcription	Liver	Liver
13	chr19:44084600-44088400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:44084600-44090200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:44084600-44090200	Enhancers	Primary B cells from cord blood	blood
16	chr19:44084600-44090200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:44084600-44090400	Enhancers	Primary B cells from peripheral blood	blood
18	chr19:44084600-44093000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:44084600-44093000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:44084600-44093000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:44084600-44093000	Weak transcription	HUVEC	blood vessel
22	chr19:44084600-44093800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:44084600-44094000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:44084600-44096800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr19:44084600-44098200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:44084800-44089800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:44084800-44095400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:44084800-44097400	Weak transcription	NH-A	brain
29	chr19:44085000-44087200	Enhancers	Primary hematopoietic stem cells	blood
30	chr19:44085000-44089800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:44085000-44095600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:44085000-44095600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:44085200-44086400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:44085200-44086400	Flanking Active TSS	Fetal Brain Female	brain
35	chr19:44085200-44086400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr19:44085400-44087200	Enhancers	GM12878-XiMat	blood
37	chr19:44085400-44094600	Weak transcription	Left Ventricle	heart
38	chr19:44085600-44086400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr19:44085600-44086400	Enhancers	Fetal Intestine Small	intestine
40	chr19:44085600-44086600	Enhancers	Fetal Thymus	thymus
41	chr19:44085600-44086800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:44085600-44086800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr19:44085600-44088400	Weak transcription	Pancreas	Pancrea
44	chr19:44085600-44090000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:44085600-44090000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr19:44085600-44090200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:44085600-44090600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:44085600-44090600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:44085600-44094200	Weak transcription	Right Ventricle	heart
50	chr19:44085600-44095200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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