Variant report

Variant	rs4808844
Chromosome Location	chr19:18811966-18811967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18810589..18812335-chr19:18824171..18827003,2	MCF-7	breast:
2	chr19:18777019..18779428-chr19:18809740..18812402,2	K562	blood:
3	chr19:18810890..18813557-chr19:18875190..18876829,2	K562	blood:
4	chr19:18789026..18790711-chr19:18810926..18813520,2	K562	blood:
5	chr19:18653429..18654988-chr19:18810315..18813230,2	K562	blood:

Variant related genes	Relation type
ENSG00000105701	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11880870	0.82[CEU][hapmap]
rs2003476	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4808845	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55935482	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7258722	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs757318	0.82[CEU][hapmap];0.83[GIH][hapmap]
rs8112818	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv960927	chr19:18808010-18837082	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4808844	ANKLE1	cis	parietal	SCAN
rs4808844	ZNF738	cis	parietal	SCAN
rs4808844	CRTC1	cis	cerebellum	SCAN
rs4808844	TMEM59L	cis	cerebellum	SCAN
rs4808844	ZNF714	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18797200-18822400	Weak transcription	HepG2	liver
2	chr19:18810200-18812400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:18810200-18812400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:18810400-18812400	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr19:18810400-18812400	Flanking Active TSS	GM12878-XiMat	blood
6	chr19:18810600-18812200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr19:18810600-18812400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr19:18810600-18812400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:18811000-18812000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr19:18811000-18812000	Flanking Active TSS	Liver	Liver
11	chr19:18811000-18812200	Flanking Active TSS	Fetal Stomach	stomach
12	chr19:18811000-18812200	Flanking Active TSS	Thymus	Thymus
13	chr19:18811000-18812400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:18811000-18812400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:18811000-18812400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:18811000-18812400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:18811000-18812400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr19:18811000-18812400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr19:18811000-18812400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr19:18811200-18812000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:18811200-18812000	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr19:18811200-18812200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:18811200-18812200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr19:18811200-18812400	Enhancers	Fetal Brain Male	brain
25	chr19:18811200-18812400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:18811400-18812000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr19:18811400-18812000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:18811400-18812000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr19:18811400-18812000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:18811400-18812000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:18811400-18812000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr19:18811400-18812000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:18811400-18812000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:18811400-18812000	Active TSS	Left Ventricle	heart
35	chr19:18811400-18812000	Active TSS	Right Atrium	heart
36	chr19:18811400-18812000	Active TSS	NHDF-Ad	bronchial
37	chr19:18811400-18812200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:18811400-18812200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:18811400-18812200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr19:18811400-18812200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr19:18811400-18812200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr19:18811400-18812200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:18811400-18812200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr19:18811400-18812200	Flanking Active TSS	Fetal Brain Female	brain
45	chr19:18811400-18812200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr19:18811400-18812200	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr19:18811400-18812200	Flanking Active TSS	Fetal Thymus	thymus
48	chr19:18811400-18812200	Active TSS	Ovary	ovary
49	chr19:18811400-18812200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr19:18811400-18812200	Flanking Active TSS	Dnd41	blood

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