Variant report

Variant	rs33910987
Chromosome Location	chr2:173046997-173046998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13005487	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13006420	0.92[ASN][1000 genomes]
rs13006876	0.92[ASN][1000 genomes]
rs17219125	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34267026	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34517309	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34928801	1.00[ASN][1000 genomes]
rs35334306	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35768968	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36078085	1.00[ASN][1000 genomes]
rs56789785	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6751665	0.87[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs33910987	OLA1	cis	cerebellum	SCAN
rs33910987	CYBRD1	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

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

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