Variant report

Variant	rs7300172
Chromosome Location	chr12:9434423-9434424
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:3)
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	chr12:9434399-9434449	NB4	blood:	n/a
2	chr12:9434399-9434449	HRPEpiC	eye:	n/a
3	chr12:9434399-9434449	A549	lung:	n/a
4	chr12:9434399-9434449	U87	brain:	n/a
5	chr12:9434399-9434449	NHDF-neo	bronchial:	n/a
6	chr12:9434399-9434449	AoSMC	blood vessel:	n/a
7	chr12:9434399-9434449	ECC-1	luminal epithelium:	n/a
8	chr12:9434399-9434449	Hela-S3	cervix:	n/a
9	chr12:9434399-9434449	GM12891	blood:	n/a
10	chr12:9434399-9434449	PANC-1	pancreas:	n/a
11	chr12:9434399-9434449	BJ	skin:	n/a
12	chr12:9434399-9434449	HNPCEpiC	eye:	n/a
13	chr12:9434399-9434449	LNCaP	prostate:	n/a
14	chr12:9434399-9434449	IMR90	lung:	fetal
15	chr12:9434399-9434449	MCF10A-Er-Src	breast:	n/a
16	chr12:9434399-9434449	NHBE	bronchial:	n/a
17	chr12:9434399-9434449	MCF-7	breast:	n/a
18	chr12:9434399-9434449	HEEpiC	esophagus:	n/a
19	chr12:9434399-9434449	AG04449	skin:	fetal
20	chr12:9434399-9434449	PFSK-1	brain:	n/a
21	chr12:9434399-9434449	HRE	kidney:	n/a
22	chr12:9434399-9434449	HCPEpiC	choroid plexus:	n/a
23	chr12:9434399-9434449	HMEC	breast:	n/a
24	chr12:9434399-9434449	HL-60	blood:	n/a
25	chr12:9434399-9434449	K562	blood:	n/a
26	chr12:9434399-9434449	HRCEpiC	kidney:	n/a
27	chr12:9434399-9434449	Hepatocyte	liver:	n/a
28	chr12:9434399-9434449	SAEC	small airway:	n/a
29	chr12:9434399-9434449	NH-A	brain:	n/a
30	chr12:9434399-9434449	SK-N-MC	brain:	n/a
31	chr12:9434399-9434449	HEK293	kidney:	embryo
32	chr12:9434399-9434449	HCF	heart:	n/a
33	chr12:9434399-9434449	SKMC	muscle:	n/a
34	chr12:9434399-9434449	BE2_C	brain:	n/a
35	chr12:9434399-9434449	HUVEC	blood vessel:	n/a
36	chr12:9434399-9434449	GM19239	blood:	n/a
37	chr12:9434399-9434449	GM12878	blood:	n/a
38	chr12:9434399-9434449	PrEC	prostate:	n/a
39	chr12:9434399-9434449	Jurkat	blood:	n/a
40	chr12:9434399-9434449	SK-N-SH_RA	brain:	n/a
41	chr12:9434399-9434449	SK-N-SH	brain:	n/a
42	chr12:9434399-9434449	HCT-116	colon:	n/a
43	chr12:9434399-9434449	HCM	heart:	n/a
44	chr12:9434399-9434449	AG10803	skin:	n/a
45	chr12:9434399-9434449	HepG2	liver:	n/a
46	chr12:9434399-9434449	T-47D	breast:	n/a
47	chr12:9434399-9434449	GM06990	blood:	n/a
48	chr12:9434399-9434449	AG09309	skin:	n/a
49	chr12:9434399-9434449	AG09319	gingival:	n/a
50	chr12:9434399-9434449	Caco-2	colon:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9428390..9430208-chr12:9433960..9436399,2	K562	blood:
2	chr12:9431917..9434887-chr12:9485752..9487325,2	MCF-7	breast:
3	chr12:9423398..9429968-chr12:9431078..9436174,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111788	CpG island
ENSG00000111788	Chromatin interaction
ENSG00000256069	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10743632	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743633	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743634	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743636	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771463	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771464	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549428	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549429	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2113899	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2113900	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4514480	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61916194	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6487735	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487748	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7135251	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300369	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960104	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
7	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
8	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1048917	chr12:9393282-9436132	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv898739	chr12:9398365-9435244	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv976736	chr12:9431362-9524845	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs7300172	RP11-22B23.1	cis	Heart Left Ventricle	GTEx
rs7300172	DDX12P	cis	Muscle Skeletal	GTEx
rs7300172	SNORA75	cis	Thyroid	GTEx
rs7300172	RP11-22B23.1	cis	Artery Aorta	GTEx
rs7300172	RP11-22B23.1	cis	Stomach	GTEx
rs7300172	SNORA75	cis	lung	GTEx
rs7300172	RP11-22B23.1	cis	Artery Tibial	GTEx
rs7300172	RP11-22B23.1	cis	Esophagus Muscularis	GTEx
rs7300172	RP11-22B23.1	cis	Whole Blood	GTEx
rs7300172	DDX12P	cis	Nerve Tibial	GTEx
rs7300172	RP11-22B23.1	cis	Esophagus Mucosa	GTEx
rs7300172	RP11-22B23.2	cis	Nerve Tibial	GTEx
rs7300172	RP11-22B23.1	cis	Muscle Skeletal	GTEx
rs7300172	DDX12P	cis	Thyroid	GTEx
rs7300172	DDX12P	cis	Artery Aorta	GTEx
rs7300172	DDX12P	cis	Esophagus Muscularis	GTEx
rs7300172	RP11-22B23.1	cis	lung	GTEx
rs7300172	RP11-22B23.1	cis	Nerve Tibial	GTEx
rs7300172	DDX12P	cis	Artery Tibial	GTEx
rs7300172	RP11-22B23.1	cis	Thyroid	GTEx
rs7300172	RP11-22B23.1	cis	Skin Sun Exposed Lower leg	GTEx
rs7300172	RP13-735L24.1	cis	Muscle Skeletal	GTEx
rs7300172	RP11-22B23.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9429200-9435200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:9429800-9435400	Weak transcription	NHEK	skin
3	chr12:9434200-9435400	Weak transcription	HepG2	liver
4	chr12:9434200-9435800	Weak transcription	Liver	Liver

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