Variant report

Variant	rs4845649
Chromosome Location	chr1:154533617-154533618
allele	A/C
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:6)
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	chr1:154533569-154533619	RPTEC	kidney:	n/a
2	chr1:154533569-154533619	LNCaP	prostate:	n/a
3	chr1:154533569-154533619	Hela-S3	cervix:	n/a
4	chr1:154533569-154533619	GM12892	blood:	n/a
5	chr1:154533569-154533619	HCM	heart:	n/a
6	chr1:154533569-154533619	HRE	kidney:	n/a
7	chr1:154533569-154533619	NT2-D1	testis:	n/a
8	chr1:154533569-154533619	ProgFib	skin:	n/a
9	chr1:154533569-154533619	IMR90	lung:	fetal
10	chr1:154533569-154533619	AG09309	skin:	n/a
11	chr1:154533569-154533619	AG09319	gingival:	n/a
12	chr1:154533569-154533619	HAEpiC	amniotic membrane:	n/a
13	chr1:154533569-154533619	AG04450	lung:	fetal
14	chr1:154533569-154533619	NB4	blood:	n/a
15	chr1:154533569-154533619	Jurkat	blood:	n/a
16	chr1:154533569-154533619	AG04449	skin:	fetal
17	chr1:154533569-154533619	HCT-116	colon:	n/a
18	chr1:154533569-154533619	MCF-7	breast:	n/a
19	chr1:154533569-154533619	HIPEpiC	eye:	n/a
20	chr1:154533569-154533619	HMEC	breast:	n/a
21	chr1:154533569-154533619	H1-hESC	embryonic stem cell:	embryo
22	chr1:154533569-154533619	HUVEC	blood vessel:	n/a
23	chr1:154533569-154533619	HL-60	blood:	n/a
24	chr1:154533569-154533619	AoSMC	blood vessel:	n/a
25	chr1:154533569-154533619	SKMC	muscle:	n/a
26	chr1:154533569-154533619	ECC-1	luminal epithelium:	n/a
27	chr1:154533569-154533619	T-47D	breast:	n/a
28	chr1:154533569-154533619	HEK293	kidney:	embryo
29	chr1:154533569-154533619	Hepatocyte	liver:	n/a
30	chr1:154533569-154533619	PrEC	prostate:	n/a
31	chr1:154533569-154533619	HNPCEpiC	eye:	n/a
32	chr1:154533569-154533619	A549	lung:	n/a
33	chr1:154533569-154533619	GM12878	blood:	n/a
34	chr1:154533569-154533619	NHDF-neo	bronchial:	n/a
35	chr1:154533569-154533619	SK-N-SH_RA	brain:	n/a
36	chr1:154533569-154533619	HCPEpiC	choroid plexus:	n/a
37	chr1:154533569-154533619	HEEpiC	esophagus:	n/a
38	chr1:154533569-154533619	ovcar-3	ovarian:	n/a
39	chr1:154533569-154533619	NHBE	bronchial:	n/a
40	chr1:154533569-154533619	PFSK-1	brain:	n/a
41	chr1:154533569-154533619	MCF10A-Er-Src	breast:	n/a
42	chr1:154533569-154533619	AG10803	skin:	n/a
43	chr1:154533569-154533619	Caco-2	colon:	n/a
44	chr1:154533569-154533619	HRCEpiC	kidney:	n/a
45	chr1:154533569-154533619	BE2_C	brain:	n/a
46	chr1:154533569-154533619	HCF	heart:	n/a
47	chr1:154533569-154533619	NH-A	brain:	n/a
48	chr1:154533569-154533619	SK-N-MC	brain:	n/a
49	chr1:154533569-154533619	U87	brain:	n/a
50	chr1:154533569-154533619	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:154512152..154513982-chr1:154532786..154534564,2	K562	blood:
2	chr1:154533452..154535071-chr1:154565672..154567692,2	K562	blood:
3	chr1:154530233..154533708-chr1:154538204..154541561,4	K562	blood:
4	chr1:154529929..154534088-chr1:154598976..154602957,6	MCF-7	breast:
5	chr1:154528881..154534687-chr1:154578685..154583746,8	MCF-7	breast:
6	chr1:154533282..154535465-chr1:154542257..154543764,2	K562	blood:

No data

Variant related genes	Relation type
UBE2Q1	CpG island
ENSG00000160710	Chromatin interaction
ENSG00000160716	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11265634	0.86[AFR][1000 genomes]
rs2280781	0.83[EUR][1000 genomes]
rs4074436	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4845378	0.82[EUR][1000 genomes]
rs4845652	0.87[EUR][1000 genomes]
rs55908418	0.84[EUR][1000 genomes]
rs61811370	0.87[EUR][1000 genomes]
rs61811371	0.87[EUR][1000 genomes]
rs61811372	0.85[EUR][1000 genomes]
rs6660775	0.87[EUR][1000 genomes]
rs72698182	0.84[EUR][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 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	chr1:154532400-154533800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:154532400-154535000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:154532400-154539000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:154532400-154539200	Weak transcription	Fetal Brain Female	brain
5	chr1:154532400-154539800	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:154532600-154539200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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