Variant report

Variant	rs847958
Chromosome Location	chr7:12510677-12510678
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: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	chr7:12510665-12510715	SK-N-SH_RA	brain:	n/a
2	chr7:12510665-12510715	PrEC	prostate:	n/a
3	chr7:12510665-12510715	SK-N-SH	brain:	n/a
4	chr7:12510665-12510715	HIPEpiC	eye:	n/a
5	chr7:12510665-12510715	H1-hESC	embryonic stem cell:	embryo
6	chr7:12510665-12510715	HRCEpiC	kidney:	n/a
7	chr7:12510665-12510715	K562	blood:	n/a
8	chr7:12510665-12510715	HepG2	liver:	n/a
9	chr7:12510665-12510715	GM19239	blood:	n/a
10	chr7:12510665-12510715	AG04449	skin:	fetal
11	chr7:12510665-12510715	HAEpiC	amniotic membrane:	n/a
12	chr7:12510665-12510715	NHBE	bronchial:	n/a
13	chr7:12510665-12510715	ovcar-3	ovarian:	n/a
14	chr7:12510665-12510715	HEK293	kidney:	embryo
15	chr7:12510665-12510715	GM06990	blood:	n/a
16	chr7:12510665-12510715	Jurkat	blood:	n/a
17	chr7:12510665-12510715	BJ	skin:	n/a
18	chr7:12510665-12510715	HNPCEpiC	eye:	n/a
19	chr7:12510665-12510715	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:12510665-12510715	HCT-116	colon:	n/a
21	chr7:12510665-12510715	LNCaP	prostate:	n/a
22	chr7:12510665-12510715	MCF10A-Er-Src	breast:	n/a
23	chr7:12510665-12510715	PANC-1	pancreas:	n/a
24	chr7:12510665-12510715	SKMC	muscle:	n/a
25	chr7:12510665-12510715	HRPEpiC	eye:	n/a
26	chr7:12510665-12510715	Caco-2	colon:	n/a
27	chr7:12510665-12510715	HUVEC	blood vessel:	n/a
28	chr7:12510665-12510715	U87	brain:	n/a
29	chr7:12510665-12510715	SAEC	small airway:	n/a
30	chr7:12510665-12510715	NHDF-neo	bronchial:	n/a
31	chr7:12510665-12510715	PFSK-1	brain:	n/a
32	chr7:12510665-12510715	HCF	heart:	n/a
33	chr7:12510665-12510715	HCM	heart:	n/a
34	chr7:12510665-12510715	CMK	blood:	n/a
35	chr7:12510665-12510715	ProgFib	skin:	n/a
36	chr7:12510665-12510715	HCPEpiC	choroid plexus:	n/a
37	chr7:12510665-12510715	A549	lung:	n/a
38	chr7:12510665-12510715	Hepatocyte	liver:	n/a
39	chr7:12510665-12510715	GM12891	blood:	n/a
40	chr7:12510665-12510715	AoSMC	blood vessel:	n/a
41	chr7:12510665-12510715	AG04450	lung:	fetal
42	chr7:12510665-12510715	NH-A	brain:	n/a
43	chr7:12510665-12510715	T-47D	breast:	n/a
44	chr7:12510665-12510715	AG09309	skin:	n/a
45	chr7:12510665-12510715	IMR90	lung:	fetal
46	chr7:12510665-12510715	GM12878	blood:	n/a
47	chr7:12510665-12510715	HMEC	breast:	n/a
48	chr7:12510665-12510715	SK-N-MC	brain:	n/a
49	chr7:12510665-12510715	MCF-7	breast:	n/a
50	chr7:12510665-12510715	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
ENSG00000236048	CpG island

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10499426	0.90[ASN][1000 genomes]
rs12669079	0.90[ASN][1000 genomes]
rs1440027	0.90[ASN][1000 genomes]
rs17192277	0.90[ASN][1000 genomes]
rs17278049	0.88[ASN][1000 genomes]
rs7787895	0.88[ASN][1000 genomes]
rs7788605	0.88[ASN][1000 genomes]
rs7792086	0.88[ASN][1000 genomes]
rs847917	0.90[ASN][1000 genomes]
rs847919	0.90[ASN][1000 genomes]
rs847920	0.90[ASN][1000 genomes]
rs847924	0.90[ASN][1000 genomes]
rs847936	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847937	0.90[ASN][1000 genomes]
rs847938	0.89[ASN][1000 genomes]
rs847940	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs847942	0.81[EUR][1000 genomes]
rs847944	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs847945	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs847947	0.82[EUR][1000 genomes]
rs847955	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs847959	0.85[EUR][1000 genomes]
rs847961	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848021	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs848022	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv1801371	chr7:12498138-12522283	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2757212	chr7:12505613-12596535	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2759511	chr7:12505613-12596535	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1017055	chr7:12509227-12553217	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12510600-12510800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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