Variant report

Variant	rs8101444
Chromosome Location	chr19:39671444-39671445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39668971..39672206-chr19:39672666..39676660,4	K562	blood:
2	chr19:39643019..39646132-chr19:39671022..39674035,4	MCF-7	breast:
3	chr19:39460475..39462812-chr19:39669230..39671981,2	K562	blood:
4	chr19:39671387..39675690-chr19:39676720..39678693,3	K562	blood:
5	chr19:39661354..39664969-chr19:39667495..39672499,5	MCF-7	breast:
6	chr19:39669910..39671469-chr19:39677971..39680938,2	K562	blood:
7	chr19:39615269..39618904-chr19:39671305..39675094,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11666140	0.81[ASN][1000 genomes]
rs11667387	0.81[ASN][1000 genomes]
rs12972566	0.80[ASN][1000 genomes]
rs13228	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17641276	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2304090	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2319153	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35946542	0.81[ASN][1000 genomes]
rs71334840	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs750247	0.81[ASN][1000 genomes]
rs754703	0.81[ASN][1000 genomes]
rs754704	0.80[ASN][1000 genomes]
rs879689	0.81[ASN][1000 genomes]

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	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8101444	PAK4	cis	Skin Sun Exposed Lower leg	GTEx
rs8101444	PAK4	cis	Thyroid	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39640000-39672600	Weak transcription	GM12878-XiMat	blood
2	chr19:39654200-39674000	Weak transcription	K562	blood
3	chr19:39657800-39687600	Weak transcription	Right Atrium	heart
4	chr19:39658400-39673000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:39658800-39672400	Strong transcription	Colonic Mucosa	Colon
6	chr19:39658800-39673000	Strong transcription	Fetal Intestine Small	intestine
7	chr19:39659000-39671600	Strong transcription	Thymus	Thymus
8	chr19:39659000-39672000	Weak transcription	HMEC	breast
9	chr19:39659000-39672800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:39659200-39672400	Strong transcription	Fetal Intestine Large	intestine
11	chr19:39659200-39672400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr19:39659200-39672800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:39659400-39672000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:39659400-39672000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr19:39659400-39672200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:39659400-39672600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:39659400-39672800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:39659400-39673200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:39659600-39672800	Strong transcription	Brain Germinal Matrix	brain
20	chr19:39659600-39672800	Strong transcription	Placenta	Placenta
21	chr19:39659600-39673000	Strong transcription	Fetal Brain Female	brain
22	chr19:39660000-39671600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr19:39660000-39673000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:39660400-39672000	Strong transcription	Pancreas	Pancrea
25	chr19:39660800-39671600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr19:39661400-39672400	Strong transcription	Lung	lung
27	chr19:39661400-39673000	Strong transcription	Gastric	stomach
28	chr19:39661400-39684600	Weak transcription	HSMM	muscle
29	chr19:39661800-39672000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:39661800-39673000	Strong transcription	Fetal Muscle Leg	muscle
31	chr19:39661800-39674000	Weak transcription	Stomach Mucosa	stomach
32	chr19:39662400-39672600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:39662600-39681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:39662800-39672800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:39663000-39672000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:39663200-39672200	Strong transcription	A549	lung
37	chr19:39663200-39672800	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr19:39663200-39681400	Weak transcription	Fetal Kidney	kidney
39	chr19:39663600-39671600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:39663600-39672200	Weak transcription	HepG2	liver
41	chr19:39663600-39673400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:39664000-39672000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:39664200-39673000	Strong transcription	Brain Cingulate Gyrus	brain
44	chr19:39665000-39671600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:39665000-39672400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:39665200-39672800	Weak transcription	Psoas Muscle	Psoas
47	chr19:39665600-39672000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:39666000-39676600	Weak transcription	Fetal Lung	lung
49	chr19:39666000-39677000	Weak transcription	Fetal Brain Male	brain
50	chr19:39666400-39672600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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