Variant report

Variant	rs8101499
Chromosome Location	chr19:19476984-19476985
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19475560..19479223-chr19:19494515..19497733,3	K562	blood:
2	chr19:19475956..19479022-chr19:19487056..19489762,4	MCF-7	breast:
3	chr19:19476462..19478976-chr19:19482373..19484505,3	K562	blood:
4	chr19:19475888..19481380-chr19:19598435..19602231,6	MCF-7	breast:
5	chr19:19475914..19477803-chr19:19479943..19482008,3	K562	blood:
6	chr19:19476063..19479194-chr19:19516845..19521061,4	K562	blood:
7	chr19:19476417..19478794-chr19:19498125..19500397,2	K562	blood:
8	chr19:19476043..19479075-chr19:19495694..19499474,5	MCF-7	breast:
9	chr19:19475761..19480142-chr19:19495038..19498469,6	MCF-7	breast:
10	chr19:19475560..19478131-chr19:19494515..19496869,2	K562	blood:
11	chr19:19469711..19473651-chr19:19475756..19478808,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13964	0.84[EUR][1000 genomes]
rs15622	0.84[EUR][1000 genomes]
rs1858999	0.82[ASN][1000 genomes]
rs2074088	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2315279	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2315281	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2315283	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2905423	0.84[EUR][1000 genomes]
rs2905424	0.83[EUR][1000 genomes]
rs2905425	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2905427	0.88[EUR][1000 genomes]
rs2905430	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2905431	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2965175	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2965180	0.82[ASN][1000 genomes]
rs2965198	0.83[EUR][1000 genomes]
rs2965199	0.84[EUR][1000 genomes]
rs2965200	0.89[EUR][1000 genomes]
rs34277109	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34538000	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35418933	0.82[EUR][1000 genomes]
rs6511030	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6511032	0.84[EUR][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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8101499	HAPLN4	cis	Nerve Tibial	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
2	chr19:19465200-19483600	Weak transcription	NH-A	brain
3	chr19:19467200-19477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:19468200-19477600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:19468400-19477600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:19468400-19478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:19468600-19477600	Weak transcription	Fetal Lung	lung
8	chr19:19469200-19477600	Weak transcription	Brain Angular Gyrus	brain
9	chr19:19469400-19482000	Weak transcription	Esophagus	oesophagus
10	chr19:19469800-19477400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:19469800-19477400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:19469800-19477600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:19469800-19488400	Weak transcription	Gastric	stomach
14	chr19:19470000-19477400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:19470000-19477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:19470400-19477600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:19472200-19477600	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:19475400-19477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:19475600-19477400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:19475800-19477000	Weak transcription	HMEC	breast
21	chr19:19475800-19477400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:19475800-19477400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:19475800-19477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:19475800-19477600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:19475800-19488000	Weak transcription	Small Intestine	intestine
26	chr19:19476000-19477400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:19476000-19477400	Weak transcription	HSMM	muscle
28	chr19:19476000-19477600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr19:19476000-19477600	Weak transcription	Fetal Stomach	stomach
30	chr19:19476000-19477600	Weak transcription	Psoas Muscle	Psoas
31	chr19:19476000-19478200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:19476000-19478200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:19476000-19481800	Weak transcription	NHEK	skin
34	chr19:19476200-19477200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:19476200-19477200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:19476200-19477200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:19476200-19477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr19:19476200-19477400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:19476200-19477400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:19476200-19477400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:19476200-19477400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:19476200-19477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:19476200-19477400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:19476200-19477400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:19476200-19477400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:19476200-19477400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:19476200-19477400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:19476200-19477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:19476200-19477400	Weak transcription	Adipose Nuclei	Adipose
50	chr19:19476200-19477400	Weak transcription	Liver	Liver

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