Variant report

Variant	rs1386352
Chromosome Location	chr2:173046754-173046755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10172507	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10183347	0.84[ASN][1000 genomes]
rs10203383	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10206099	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10208791	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11898349	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1386351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1386353	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1825750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34085702	0.95[ASN][1000 genomes]
rs6743245	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6751272	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6751564	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2762294	chr2:173028656-173071270	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1386352	PDK1	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173043000-173046800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:173045200-173047200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:173045800-173047000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr2:173045800-173047400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr2:173046000-173046800	Enhancers	Primary T cells from cord blood	blood
6	chr2:173046000-173046800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:173046000-173047200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:173046000-173047200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:173046000-173047600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:173046200-173046800	Enhancers	Fetal Intestine Large	intestine
11	chr2:173046200-173047000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:173046200-173047000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:173046200-173047000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:173046200-173047000	Enhancers	Fetal Thymus	thymus
15	chr2:173046200-173047000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:173046200-173047200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:173046200-173047200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:173046200-173047200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:173046200-173047400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:173046400-173046800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:173046400-173046800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:173046400-173046800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:173046400-173046800	Enhancers	Fetal Intestine Small	intestine
24	chr2:173046400-173046800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr2:173046400-173047000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:173046400-173047000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:173046400-173047000	Enhancers	Thymus	Thymus
28	chr2:173046400-173047000	Enhancers	HMEC	breast
29	chr2:173046400-173047200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:173046400-173047200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:173046400-173047200	Enhancers	NH-A	brain
32	chr2:173046600-173046800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:173046600-173046800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:173046600-173046800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:173046600-173046800	Enhancers	Esophagus	oesophagus
36	chr2:173046600-173047000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:173046600-173047000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:173046600-173047000	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:173046600-173047000	Enhancers	Hela-S3	cervix
40	chr2:173046600-173047000	Enhancers	NHEK	skin
41	chr2:173046600-173047600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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