Variant report

Variant	rs10800198
Chromosome Location	chr1:166125423-166125424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166125392-166125442	AG04450	lung:	fetal
2	chr1:166125392-166125442	Jurkat	blood:	n/a
3	chr1:166125392-166125442	SK-N-MC	brain:	n/a
4	chr1:166125392-166125442	PrEC	prostate:	n/a
5	chr1:166125392-166125442	SAEC	small airway:	n/a
6	chr1:166125392-166125442	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:166125392-166125442	BJ	skin:	n/a
8	chr1:166125392-166125442	GM06990	blood:	n/a
9	chr1:166125392-166125442	BE2_C	brain:	n/a
10	chr1:166125392-166125442	H1-hESC	embryonic stem cell:	embryo
11	chr1:166125392-166125442	HL-60	blood:	n/a
12	chr1:166125392-166125442	HRE	kidney:	n/a
13	chr1:166125392-166125442	K562	blood:	n/a
14	chr1:166125392-166125442	Caco-2	colon:	n/a
15	chr1:166125392-166125442	GM19239	blood:	n/a
16	chr1:166125392-166125442	HEEpiC	esophagus:	n/a
17	chr1:166125392-166125442	NB4	blood:	n/a
18	chr1:166125392-166125442	RPTEC	kidney:	n/a
19	chr1:166125392-166125442	SK-N-SH	brain:	n/a
20	chr1:166125392-166125442	HRCEpiC	kidney:	n/a
21	chr1:166125392-166125442	HCM	heart:	n/a
22	chr1:166125392-166125442	NH-A	brain:	n/a
23	chr1:166125392-166125442	HMEC	breast:	n/a
24	chr1:166125392-166125442	GM12891	blood:	n/a
25	chr1:166125392-166125442	A549	lung:	n/a
26	chr1:166125392-166125442	GM12878	blood:	n/a
27	chr1:166125392-166125442	CMK	blood:	n/a
28	chr1:166125392-166125442	PFSK-1	brain:	n/a
29	chr1:166125392-166125442	Hela-S3	cervix:	n/a
30	chr1:166125392-166125442	NHBE	bronchial:	n/a
31	chr1:166125392-166125442	Hepatocyte	liver:	n/a
32	chr1:166125392-166125442	AG04449	skin:	fetal
33	chr1:166125392-166125442	HepG2	liver:	n/a
34	chr1:166125392-166125442	NHDF-neo	bronchial:	n/a
35	chr1:166125392-166125442	HNPCEpiC	eye:	n/a
36	chr1:166125392-166125442	ProgFib	skin:	n/a
37	chr1:166125392-166125442	T-47D	breast:	n/a
38	chr1:166125392-166125442	HIPEpiC	eye:	n/a
39	chr1:166125392-166125442	ECC-1	luminal epithelium:	n/a
40	chr1:166125392-166125442	AG10803	skin:	n/a
41	chr1:166125392-166125442	HUVEC	blood vessel:	n/a
42	chr1:166125392-166125442	IMR90	lung:	fetal
43	chr1:166125392-166125442	SKMC	muscle:	n/a
44	chr1:166125392-166125442	HAEpiC	amniotic membrane:	n/a
45	chr1:166125392-166125442	PANC-1	pancreas:	n/a
46	chr1:166125392-166125442	GM12892	blood:	n/a
47	chr1:166125392-166125442	AoSMC	blood vessel:	n/a
48	chr1:166125392-166125442	HEK293	kidney:	embryo
49	chr1:166125392-166125442	AG09309	skin:	n/a
50	chr1:166125392-166125442	U87	brain:	n/a

No data

Variant related genes	Relation type
MIR921	CpG island

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10494453	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10494455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10494456	0.82[AMR][1000 genomes]
rs10800199	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10800200	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10918369	0.90[TSI][hapmap]
rs10918373	0.94[YRI][hapmap]
rs10918381	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10918383	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10918384	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10918385	0.92[EUR][1000 genomes]
rs12023523	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12031538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076837	0.94[EUR][1000 genomes]
rs12126834	0.92[EUR][1000 genomes]
rs12136704	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12144426	0.91[EUR][1000 genomes]
rs12402371	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12409766	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12734750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1432119	0.92[EUR][1000 genomes]
rs1529642	0.94[EUR][1000 genomes]
rs1530889	0.94[EUR][1000 genomes]
rs1551179	0.94[EUR][1000 genomes]
rs1864791	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2116519	0.85[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs28568389	0.82[AMR][1000 genomes]
rs4074897	0.90[TSI][hapmap]
rs4656481	0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs4656484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4657530	0.92[EUR][1000 genomes]
rs61835151	0.82[AMR][1000 genomes]
rs6426968	0.90[TSI][hapmap]
rs6681924	0.85[GIH][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs6696964	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6698285	0.82[TSI][hapmap]
rs6698973	0.90[TSI][hapmap]
rs6700193	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7513325	0.90[TSI][hapmap]
rs7548172	1.00[CEU][hapmap];0.80[JPT][hapmap];0.98[EUR][1000 genomes]
rs9787101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9787239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10800198	PBX1	cis	cerebellum	SCAN
rs10800198	RCSD1	cis	parietal	SCAN
rs10800198	CD48	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166119400-166128400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:166122600-166126800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr1:166122600-166127200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:166122800-166126000	Weak transcription	Gastric	stomach
5	chr1:166123000-166125600	Weak transcription	Right Atrium	heart
6	chr1:166123400-166126600	Weak transcription	Psoas Muscle	Psoas
7	chr1:166123600-166126000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:166123600-166127000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:166123800-166134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:166125400-166127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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