Variant report

Variant	rs1124737
Chromosome Location	chr19:44405301-44405302
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:1)
LncRNA
region (count:10)
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	chr19:44405270-44405397	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44405165..44406844-chr19:44438913..44440753,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF404-1	chr19:44405189-44405957	ENSG00000247377
2	lnc-ZNF404-1	chr19:44405197-44405994	XLOC_013350
3	lnc-ZNF404-1	chr19:44405020-44405837	XLOC_013350
4	lnc-ZNF404-1	chr19:44405189-44405949	XLOC_013350
5	lnc-ZNF404-1	chr19:44405189-44405703	XLOC_013350
6	lnc-ZNF404-1	chr19:44405189-44405537	NONHSAT066636
7	lnc-ZNF404-1	chr19:44405189-44405957	ENSG00000267058.1
8	lnc-ZNF404-1	chr19:44405189-44405873	NONHSAT066641
9	lnc-ZNF404-1	chr19:44405197-44405663	ENSG00000267058.1
10	lnc-ZNF404-1	chr19:44405189-44405955	NR_038334

No data

Variant related genes	Relation type
ENSG00000267191	TF binding region
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16976860	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976861	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976863	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976889	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17449078	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2191562	0.91[YRI][hapmap]
rs2191563	0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56870791	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs57500373	0.81[AFR][1000 genomes]
rs59935787	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs60582855	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61022716	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61277064	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61528694	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6509121	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7254625	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs766959	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8103693	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8105412	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8106317	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8107364	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8108832	0.99[AFR][1000 genomes];0.93[AMR][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	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44398800-44405600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44401200-44405400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:44401400-44405400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:44404000-44405400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:44404000-44434800	ZNF genes & repeats	Liver	Liver
6	chr19:44404200-44407000	ZNF genes & repeats	GM12878-XiMat	blood
7	chr19:44404400-44405400	Weak transcription	HSMM	muscle
8	chr19:44404400-44406200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:44404600-44405400	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr19:44404600-44405600	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:44404800-44405800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:44404800-44406600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:44404800-44406800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr19:44405000-44405400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr19:44405000-44405400	Active TSS	Duodenum Mucosa	Duodenum
16	chr19:44405000-44405400	Enhancers	HepG2	liver
17	chr19:44405000-44405600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:44405000-44405600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr19:44405000-44405600	Flanking Active TSS	Fetal Brain Male	brain
20	chr19:44405000-44405800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr19:44405000-44405800	Flanking Active TSS	Fetal Heart	heart
22	chr19:44405000-44406000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr19:44405000-44406400	Active TSS	Fetal Brain Female	brain
24	chr19:44405200-44405400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:44405200-44405400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:44405200-44405400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:44405200-44405400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:44405200-44405400	Enhancers	Primary hematopoietic stem cells	blood
29	chr19:44405200-44405400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:44405200-44405400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr19:44405200-44405400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:44405200-44405400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:44405200-44405400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:44405200-44405400	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr19:44405200-44405400	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr19:44405200-44405400	Enhancers	Fetal Intestine Large	intestine
37	chr19:44405200-44405400	Enhancers	Fetal Kidney	kidney
38	chr19:44405200-44405400	Enhancers	Fetal Muscle Leg	muscle
39	chr19:44405200-44405400	Enhancers	Placenta	Placenta
40	chr19:44405200-44405400	Enhancers	Gastric	stomach
41	chr19:44405200-44405400	Enhancers	Ovary	ovary
42	chr19:44405200-44405400	Enhancers	Pancreas	Pancrea
43	chr19:44405200-44405400	Active TSS	Psoas Muscle	Psoas
44	chr19:44405200-44405400	Active TSS	Right Atrium	heart
45	chr19:44405200-44405400	Enhancers	Stomach Mucosa	stomach
46	chr19:44405200-44405400	Flanking Active TSS	NHDF-Ad	bronchial
47	chr19:44405200-44405600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:44405200-44405600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:44405200-44405600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:44405200-44405600	Enhancers	Primary T cells fromperipheralblood	blood

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