Variant report

Variant	rs4802021
Chromosome Location	chr19:39675477-39675478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39616247..39618340-chr19:39674004..39675783,3	K562	blood:
2	chr19:39671387..39675690-chr19:39676720..39678693,3	K562	blood:
3	chr19:39643809..39645925-chr19:39673965..39675850,2	K562	blood:
4	chr19:39617221..39619579-chr19:39672951..39675735,2	MCF-7	breast:
5	chr19:39672896..39675810-chr19:39732374..39734924,2	K562	blood:
6	chr19:39668971..39672206-chr19:39672666..39676660,4	K562	blood:
7	chr19:39673403..39676045-chr19:39694848..39697748,2	K562	blood:
8	chr19:39656551..39660143-chr19:39675246..39681058,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130669	Chromatin interaction
ENSG00000179751	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11667387	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12610238	0.80[EUR][1000 genomes]
rs17641276	0.83[ASN][1000 genomes]
rs2319153	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71334840	0.84[AMR][1000 genomes];0.90[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4802021	PAK4	cis	Thyroid	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39657800-39687600	Weak transcription	Right Atrium	heart
2	chr19:39661400-39684600	Weak transcription	HSMM	muscle
3	chr19:39662600-39681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:39663200-39681400	Weak transcription	Fetal Kidney	kidney
5	chr19:39666000-39676600	Weak transcription	Fetal Lung	lung
6	chr19:39666000-39677000	Weak transcription	Fetal Brain Male	brain
7	chr19:39667400-39679600	Weak transcription	HSMMtube	muscle
8	chr19:39669200-39685800	Weak transcription	NHEK	skin
9	chr19:39669400-39675800	Weak transcription	Hela-S3	cervix
10	chr19:39669400-39676000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr19:39669400-39678200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:39669600-39677800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:39669600-39678200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:39669800-39676000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:39669800-39678200	Weak transcription	Right Ventricle	heart
16	chr19:39670600-39678400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:39670800-39678200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:39671000-39675800	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:39671000-39676000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:39671000-39678200	Weak transcription	Esophagus	oesophagus
21	chr19:39671000-39678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:39671000-39678400	Weak transcription	Spleen	Spleen
23	chr19:39671600-39675800	Weak transcription	Thymus	Thymus
24	chr19:39672000-39677800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:39672000-39677800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:39672000-39683600	Weak transcription	Pancreas	Pancrea
27	chr19:39672400-39676200	Weak transcription	Colonic Mucosa	Colon
28	chr19:39672400-39677800	Weak transcription	Fetal Intestine Large	intestine
29	chr19:39672400-39678200	Weak transcription	Lung	lung
30	chr19:39672600-39676200	Weak transcription	NHLF	lung
31	chr19:39672600-39677200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:39672600-39678200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:39672600-39678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:39672800-39675800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr19:39672800-39676000	Weak transcription	Brain Germinal Matrix	brain
36	chr19:39672800-39676600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:39672800-39677800	Weak transcription	Placenta	Placenta
38	chr19:39672800-39678200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:39672800-39683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:39673000-39675800	Weak transcription	Fetal Muscle Leg	muscle
41	chr19:39673000-39675800	Weak transcription	Fetal Stomach	stomach
42	chr19:39673000-39676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:39673000-39676000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:39673000-39678000	Weak transcription	Fetal Brain Female	brain
45	chr19:39673000-39678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:39673000-39678200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:39673000-39681400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:39673000-39684200	Weak transcription	Gastric	stomach
49	chr19:39673200-39677800	Weak transcription	HepG2	liver
50	chr19:39673200-39681400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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