Variant report

Variant	rs591868
Chromosome Location	chr1:93475069-93475070
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	chr1:93475058-93475108	HCT-116	colon:	n/a
2	chr1:93475058-93475108	Hepatocyte	liver:	n/a
3	chr1:93475058-93475108	T-47D	breast:	n/a
4	chr1:93475058-93475108	PANC-1	pancreas:	n/a
5	chr1:93475058-93475108	HIPEpiC	eye:	n/a
6	chr1:93475058-93475108	AoSMC	blood vessel:	n/a
7	chr1:93475058-93475108	AG10803	skin:	n/a
8	chr1:93475058-93475108	PFSK-1	brain:	n/a
9	chr1:93475058-93475108	NB4	blood:	n/a
10	chr1:93475058-93475108	SKMC	muscle:	n/a
11	chr1:93475058-93475108	GM12878	blood:	n/a
12	chr1:93475058-93475108	AG09319	gingival:	n/a
13	chr1:93475058-93475108	HMEC	breast:	n/a
14	chr1:93475058-93475108	HNPCEpiC	eye:	n/a
15	chr1:93475058-93475108	HEEpiC	esophagus:	n/a
16	chr1:93475058-93475108	NT2-D1	testis:	n/a
17	chr1:93475058-93475108	HepG2	liver:	n/a
18	chr1:93475058-93475108	Caco-2	colon:	n/a
19	chr1:93475058-93475108	AG04450	lung:	fetal
20	chr1:93475058-93475108	NHBE	bronchial:	n/a
21	chr1:93475058-93475108	SK-N-SH	brain:	n/a
22	chr1:93475058-93475108	HCM	heart:	n/a
23	chr1:93475058-93475108	AG04449	skin:	fetal
24	chr1:93475058-93475108	NH-A	brain:	n/a
25	chr1:93475058-93475108	IMR90	lung:	fetal
26	chr1:93475058-93475108	GM12892	blood:	n/a
27	chr1:93475058-93475108	Hela-S3	cervix:	n/a
28	chr1:93475058-93475108	ovcar-3	ovarian:	n/a
29	chr1:93475058-93475108	H1-hESC	embryonic stem cell:	embryo
30	chr1:93475058-93475108	HEK293	kidney:	embryo
31	chr1:93475058-93475108	GM19239	blood:	n/a
32	chr1:93475058-93475108	GM12891	blood:	n/a
33	chr1:93475058-93475108	U87	brain:	n/a
34	chr1:93475058-93475108	HAEpiC	amniotic membrane:	n/a
35	chr1:93475058-93475108	HRPEpiC	eye:	n/a
36	chr1:93475058-93475108	NHDF-neo	bronchial:	n/a
37	chr1:93475058-93475108	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:93475058-93475108	MCF-7	breast:	n/a
39	chr1:93475058-93475108	SAEC	small airway:	n/a
40	chr1:93475058-93475108	SK-N-SH_RA	brain:	n/a
41	chr1:93475058-93475108	MCF10A-Er-Src	breast:	n/a
42	chr1:93475058-93475108	GM06990	blood:	n/a
43	chr1:93475058-93475108	Jurkat	blood:	n/a
44	chr1:93475058-93475108	AG09309	skin:	n/a
45	chr1:93475058-93475108	HCPEpiC	choroid plexus:	n/a
46	chr1:93475058-93475108	BE2_C	brain:	n/a
47	chr1:93475058-93475108	ProgFib	skin:	n/a
48	chr1:93475058-93475108	HUVEC	blood vessel:	n/a
49	chr1:93475058-93475108	HCF	heart:	n/a
50	chr1:93475058-93475108	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
RNU6-210P	CpG island

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11164860	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11164861	0.96[ASN][1000 genomes]
rs12022729	0.84[ASN][1000 genomes]
rs12023767	0.84[ASN][1000 genomes]
rs12027025	0.84[ASN][1000 genomes]
rs12039256	0.84[ASN][1000 genomes]
rs12043577	0.84[ASN][1000 genomes]
rs12119421	0.83[ASN][1000 genomes]
rs12130551	0.96[ASN][1000 genomes]
rs12134501	0.84[ASN][1000 genomes]
rs12141895	0.84[ASN][1000 genomes]
rs1678778	0.89[ASN][1000 genomes]
rs2086312	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2253595	0.86[ASN][1000 genomes]
rs2485032	0.86[EUR][1000 genomes]
rs2492898	0.84[ASN][1000 genomes]
rs2928183	0.97[ASN][1000 genomes]
rs4626900	0.84[ASN][1000 genomes]
rs481214	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4847227	0.89[ASN][1000 genomes]
rs485336	0.84[ASN][1000 genomes]
rs486370	0.97[ASN][1000 genomes]
rs492054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs496465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497540	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504418	0.89[ASN][1000 genomes]
rs517856	0.82[ASN][1000 genomes]
rs521527	0.89[ASN][1000 genomes]
rs524045	0.85[ASN][1000 genomes]
rs553396	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs557812	0.87[ASN][1000 genomes]
rs56320266	0.95[ASN][1000 genomes]
rs572131	0.97[ASN][1000 genomes]
rs57478994	0.85[ASN][1000 genomes]
rs590296	0.89[ASN][1000 genomes]
rs591820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664524	0.86[ASN][1000 genomes]
rs664852	0.88[ASN][1000 genomes]
rs6674738	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs680285	0.85[ASN][1000 genomes]
rs681373	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs808833	0.83[ASN][1000 genomes]
rs9787147	0.85[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93471600-93478000	Weak transcription	GM12878-XiMat	blood
2	chr1:93474000-93478800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:93474200-93478800	Weak transcription	HSMMtube	muscle
4	chr1:93474200-93479000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:93474200-93490600	Weak transcription	K562	blood
6	chr1:93474400-93478200	Weak transcription	Fetal Muscle Leg	muscle

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