Variant report

Variant	rs73250518
Chromosome Location	chr12:8666334-8666335
allele	C/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: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	chr12:8666295-8666345	RPTEC	kidney:	n/a
2	chr12:8666295-8666345	PrEC	prostate:	n/a
3	chr12:8666295-8666345	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:8666295-8666345	GM12878	blood:	n/a
5	chr12:8666295-8666345	AoSMC	blood vessel:	n/a
6	chr12:8666295-8666345	HCPEpiC	choroid plexus:	n/a
7	chr12:8666295-8666345	HIPEpiC	eye:	n/a
8	chr12:8666295-8666345	SK-N-SH_RA	brain:	n/a
9	chr12:8666295-8666345	NHDF-neo	bronchial:	n/a
10	chr12:8666295-8666345	NH-A	brain:	n/a
11	chr12:8666295-8666345	Hela-S3	cervix:	n/a
12	chr12:8666295-8666345	ovcar-3	ovarian:	n/a
13	chr12:8666295-8666345	CMK	blood:	n/a
14	chr12:8666295-8666345	HL-60	blood:	n/a
15	chr12:8666295-8666345	AG09319	gingival:	n/a
16	chr12:8666295-8666345	GM06990	blood:	n/a
17	chr12:8666295-8666345	NHBE	bronchial:	n/a
18	chr12:8666295-8666345	LNCaP	prostate:	n/a
19	chr12:8666295-8666345	SKMC	muscle:	n/a
20	chr12:8666295-8666345	HMEC	breast:	n/a
21	chr12:8666295-8666345	AG09309	skin:	n/a
22	chr12:8666295-8666345	NB4	blood:	n/a
23	chr12:8666295-8666345	HAEpiC	amniotic membrane:	n/a
24	chr12:8666295-8666345	SK-N-SH	brain:	n/a
25	chr12:8666295-8666345	HRPEpiC	eye:	n/a
26	chr12:8666295-8666345	ECC-1	luminal epithelium:	n/a
27	chr12:8666295-8666345	HNPCEpiC	eye:	n/a
28	chr12:8666295-8666345	U87	brain:	n/a
29	chr12:8666295-8666345	PANC-1	pancreas:	n/a
30	chr12:8666295-8666345	H1-hESC	embryonic stem cell:	embryo
31	chr12:8666295-8666345	BJ	skin:	n/a
32	chr12:8666295-8666345	AG10803	skin:	n/a
33	chr12:8666295-8666345	HCM	heart:	n/a
34	chr12:8666295-8666345	MCF10A-Er-Src	breast:	n/a
35	chr12:8666295-8666345	Hepatocyte	liver:	n/a
36	chr12:8666295-8666345	HEK293	kidney:	embryo
37	chr12:8666295-8666345	IMR90	lung:	fetal
38	chr12:8666295-8666345	SAEC	small airway:	n/a
39	chr12:8666295-8666345	HCT-116	colon:	n/a
40	chr12:8666295-8666345	HCF	heart:	n/a
41	chr12:8666295-8666345	HEEpiC	esophagus:	n/a
42	chr12:8666295-8666345	PFSK-1	brain:	n/a
43	chr12:8666295-8666345	GM12892	blood:	n/a
44	chr12:8666295-8666345	HRCEpiC	kidney:	n/a
45	chr12:8666295-8666345	SK-N-MC	brain:	n/a
46	chr12:8666295-8666345	T-47D	breast:	n/a
47	chr12:8666295-8666345	GM12891	blood:	n/a
48	chr12:8666295-8666345	HRE	kidney:	n/a
49	chr12:8666295-8666345	AG04449	skin:	fetal
50	chr12:8666295-8666345	HepG2	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000246115	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11046021	1.00[ASN][1000 genomes]
rs11046022	1.00[ASN][1000 genomes]
rs11046036	1.00[ASN][1000 genomes]
rs11046037	1.00[ASN][1000 genomes]
rs11046045	1.00[ASN][1000 genomes]
rs11046047	1.00[ASN][1000 genomes]
rs11046052	1.00[ASN][1000 genomes]
rs11046054	1.00[ASN][1000 genomes]
rs11502427	1.00[ASN][1000 genomes]
rs11502428	1.00[ASN][1000 genomes]
rs11502683	1.00[ASN][1000 genomes]
rs12300561	1.00[ASN][1000 genomes]
rs12301908	1.00[ASN][1000 genomes]
rs12302126	1.00[ASN][1000 genomes]
rs12306856	1.00[ASN][1000 genomes]
rs12316625	1.00[ASN][1000 genomes]
rs59401741	1.00[AMR][1000 genomes]
rs60451208	1.00[AMR][1000 genomes]
rs6487219	1.00[ASN][1000 genomes]
rs6487220	1.00[ASN][1000 genomes]
rs6487221	1.00[ASN][1000 genomes]
rs7136461	1.00[AMR][1000 genomes]
rs7138828	1.00[ASN][1000 genomes]
rs7298114	1.00[ASN][1000 genomes]
rs7298236	1.00[ASN][1000 genomes]
rs7300097	1.00[ASN][1000 genomes]
rs7307664	1.00[ASN][1000 genomes]
rs73250515	1.00[AMR][1000 genomes]
rs73250522	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73250524	1.00[AMR][1000 genomes]
rs74059874	1.00[AMR][1000 genomes]
rs7963287	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1039504	chr12:8494944-8780137	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv557342	chr12:8599397-8774527	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv933050	chr12:8602789-8775989	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv518772	chr12:8615809-8667579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv518125	chr12:8615809-8671274	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1035270	chr12:8619562-8674062	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv933555	chr12:8627165-8775989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv933639	chr12:8627243-8775989	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv526021	chr12:8662809-8671274	Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr12:8665800-8667000	Active TSS	Monocytes-CD14+_RO01746	blood
2	chr12:8666000-8666400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr12:8666000-8667000	Active TSS	Primary monocytes fromperipheralblood	blood
4	chr12:8666000-8667600	Active TSS	Primary hematopoietic stem cells	blood
5	chr12:8666000-8667800	Active TSS	Primary B cells from cord blood	blood
6	chr12:8666200-8667200	Active TSS	Primary neutrophils fromperipheralblood	blood

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