Variant report

Variant	rs190137
Chromosome Location	chr6:44670330-44670331
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1283921	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283922	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283924	1.00[ASN][1000 genomes]
rs1293597	1.00[ASN][1000 genomes]
rs1296351	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1298942	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335164	1.00[ASN][1000 genomes]
rs1767800	0.81[EUR][1000 genomes]
rs227804	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227805	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227807	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227809	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227810	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227816	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227820	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227821	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227822	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227823	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227825	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227826	0.81[EUR][1000 genomes]
rs227856	1.00[ASN][1000 genomes]
rs2461016	1.00[ASN][1000 genomes]
rs2817118	0.81[EUR][1000 genomes]
rs489448	0.81[EUR][1000 genomes]
rs489757	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491590	1.00[ASN][1000 genomes]
rs504907	1.00[ASN][1000 genomes]
rs545441	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546936	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs551817	1.00[ASN][1000 genomes]
rs552919	1.00[ASN][1000 genomes]
rs552972	1.00[ASN][1000 genomes]
rs554682	1.00[ASN][1000 genomes]
rs567297	1.00[ASN][1000 genomes]
rs570778	1.00[ASN][1000 genomes]
rs581216	1.00[ASN][1000 genomes]
rs613208	1.00[ASN][1000 genomes]
rs613948	1.00[ASN][1000 genomes]
rs625595	1.00[ASN][1000 genomes]
rs626965	1.00[ASN][1000 genomes]
rs631320	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641011	1.00[ASN][1000 genomes]
rs641340	1.00[ASN][1000 genomes]
rs660643	1.00[ASN][1000 genomes]
rs666652	1.00[ASN][1000 genomes]
rs672098	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817071	chr6:44670110-44698829	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs190137	PRPH2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44665600-44673800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:44667200-44691000	Weak transcription	Right Atrium	heart
3	chr6:44668800-44670400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:44668800-44670800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:44668800-44670800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:44669000-44670400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:44669000-44670400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:44669000-44670600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:44669000-44670800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:44669600-44670600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:44669600-44670800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:44669800-44670400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:44670000-44670400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:44670000-44670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:44670000-44670800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:44670000-44670800	Enhancers	NH-A	brain
17	chr6:44670200-44672600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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