Variant report

Variant	rs12574118
Chromosome Location	chr11:85952342-85952343
allele	A/G
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:9)
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	chr11:85952331-85952381	PANC-1	pancreas:	n/a
2	chr11:85952331-85952381	LNCaP	prostate:	n/a
3	chr11:85952331-85952381	HEK293	kidney:	embryo
4	chr11:85952331-85952381	GM12878	blood:	n/a
5	chr11:85952331-85952381	HMEC	breast:	n/a
6	chr11:85952331-85952381	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:85952331-85952381	HRE	kidney:	n/a
8	chr11:85952331-85952381	SK-N-MC	brain:	n/a
9	chr11:85952331-85952381	HIPEpiC	eye:	n/a
10	chr11:85952331-85952381	HL-60	blood:	n/a
11	chr11:85952331-85952381	PFSK-1	brain:	n/a
12	chr11:85952331-85952381	HRCEpiC	kidney:	n/a
13	chr11:85952331-85952381	HRPEpiC	eye:	n/a
14	chr11:85952331-85952381	ovcar-3	ovarian:	n/a
15	chr11:85952331-85952381	AG09309	skin:	n/a
16	chr11:85952331-85952381	T-47D	breast:	n/a
17	chr11:85952331-85952381	HAEpiC	amniotic membrane:	n/a
18	chr11:85952331-85952381	RPTEC	kidney:	n/a
19	chr11:85952331-85952381	HCPEpiC	choroid plexus:	n/a
20	chr11:85952331-85952381	NH-A	brain:	n/a
21	chr11:85952331-85952381	AG04450	lung:	fetal
22	chr11:85952331-85952381	GM19239	blood:	n/a
23	chr11:85952331-85952381	Jurkat	blood:	n/a
24	chr11:85952331-85952381	MCF-7	breast:	n/a
25	chr11:85952331-85952381	Hela-S3	cervix:	n/a
26	chr11:85952331-85952381	NHDF-neo	bronchial:	n/a
27	chr11:85952331-85952381	NHBE	bronchial:	n/a
28	chr11:85952331-85952381	GM12892	blood:	n/a
29	chr11:85952331-85952381	AoSMC	blood vessel:	n/a
30	chr11:85952331-85952381	Hepatocyte	liver:	n/a
31	chr11:85952331-85952381	HNPCEpiC	eye:	n/a
32	chr11:85952331-85952381	MCF10A-Er-Src	breast:	n/a
33	chr11:85952331-85952381	K562	blood:	n/a
34	chr11:85952331-85952381	GM12891	blood:	n/a
35	chr11:85952331-85952381	NB4	blood:	n/a
36	chr11:85952331-85952381	SAEC	small airway:	n/a
37	chr11:85952331-85952381	SKMC	muscle:	n/a
38	chr11:85952331-85952381	AG09319	gingival:	n/a
39	chr11:85952331-85952381	BJ	skin:	n/a
40	chr11:85952331-85952381	U87	brain:	n/a
41	chr11:85952331-85952381	HCT-116	colon:	n/a
42	chr11:85952331-85952381	HEEpiC	esophagus:	n/a
43	chr11:85952331-85952381	ProgFib	skin:	n/a
44	chr11:85952331-85952381	NT2-D1	testis:	n/a
45	chr11:85952331-85952381	IMR90	lung:	fetal
46	chr11:85952331-85952381	ECC-1	luminal epithelium:	n/a
47	chr11:85952331-85952381	A549	lung:	n/a
48	chr11:85952331-85952381	GM06990	blood:	n/a
49	chr11:85952331-85952381	SK-N-SH	brain:	n/a
50	chr11:85952331-85952381	HCF	heart:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85913237..85915607-chr11:85952212..85954653,2	K562	blood:
2	chr11:85946291..85947955-chr11:85950332..85952940,2	MCF-7	breast:
3	chr11:85951079..85952582-chr11:85956879..85959583,2	K562	blood:
4	chr11:85939907..85943169-chr11:85949863..85954103,4	K562	blood:
5	chr11:85856566..85859537-chr11:85951959..85954165,2	K562	blood:
6	chr11:85949048..85953243-chr11:85953411..85957233,6	MCF-7	breast:
7	chr11:85943444..85945776-chr11:85951720..85953260,2	K562	blood:
8	chr11:85658069..85660517-chr11:85950815..85953002,2	K562	blood:
9	chr11:85945545..85947391-chr11:85950063..85952731,2	K562	blood:

No data

Variant related genes	Relation type
EED	CpG island
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10792840	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898454	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898455	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898456	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234582	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234583	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234585	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234586	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234587	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234591	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234592	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234595	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1215001	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12225782	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12226796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282663	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577739	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12800606	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1376947	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1391221	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs19039	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291225	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs291227	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291228	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291230	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291233	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291234	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291237	0.95[ASN][1000 genomes]
rs291238	0.95[ASN][1000 genomes]
rs291242	0.92[ASN][1000 genomes]
rs291247	0.89[ASN][1000 genomes]
rs291251	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34095340	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34972740	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3923738	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4547120	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944562	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12574118	EED	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85941600-85955000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:85951600-85954400	Weak transcription	Hela-S3	cervix
3	chr11:85951800-85953200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:85951800-85953200	Enhancers	K562	blood
5	chr11:85951800-85954600	Weak transcription	HepG2	liver
6	chr11:85952000-85953400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:85952000-85953600	Weak transcription	GM12878-XiMat	blood

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