Variant report

Variant	rs74061123
Chromosome Location	chr12:12333487-12333488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10082834	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10083170	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466847	0.81[EUR][1000 genomes]
rs10845497	0.87[EUR][1000 genomes]
rs10845499	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845500	0.85[EUR][1000 genomes]
rs11054720	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054729	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054732	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054746	0.87[EUR][1000 genomes]
rs1123213	0.84[EUR][1000 genomes]
rs11829211	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12297598	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304957	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307111	0.87[EUR][1000 genomes]
rs12309246	0.81[EUR][1000 genomes]
rs12311922	0.87[EUR][1000 genomes]
rs12316043	0.81[EUR][1000 genomes]
rs12319942	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425185	0.89[EUR][1000 genomes]
rs12427198	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448423	0.87[EUR][1000 genomes]
rs56998126	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57055264	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58682800	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7308022	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311064	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74061145	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957531	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960716	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973583	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973718	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978064	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979919	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:12279800-12342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12281800-12335600	Weak transcription	Psoas Muscle	Psoas
6	chr12:12288200-12342800	Weak transcription	K562	blood
7	chr12:12302200-12338400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:12303800-12335600	Weak transcription	Right Ventricle	heart
9	chr12:12304000-12353000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:12312000-12350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:12312200-12334000	Weak transcription	Pancreas	Pancrea
12	chr12:12312200-12334600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:12312200-12338000	Weak transcription	Brain Germinal Matrix	brain
14	chr12:12312200-12355800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
16	chr12:12312800-12337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:12314000-12335600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:12314000-12336000	Weak transcription	Adipose Nuclei	Adipose
19	chr12:12314400-12336000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:12315400-12334000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:12315400-12340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:12315400-12371600	Weak transcription	Lung	lung
23	chr12:12317600-12335600	Weak transcription	Fetal Stomach	stomach
24	chr12:12317800-12335400	Weak transcription	Fetal Kidney	kidney
25	chr12:12318200-12335600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:12318200-12335600	Weak transcription	Left Ventricle	heart
27	chr12:12318200-12335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:12318400-12334000	Weak transcription	Brain Substantia Nigra	brain
29	chr12:12322000-12334200	Weak transcription	Gastric	stomach
30	chr12:12325400-12334000	Weak transcription	NHLF	lung
31	chr12:12325400-12335800	Weak transcription	Osteobl	bone
32	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:12325600-12335000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:12325800-12334000	Weak transcription	Fetal Heart	heart
35	chr12:12325800-12334200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:12325800-12335600	Weak transcription	Fetal Brain Female	brain
37	chr12:12325800-12335600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:12325800-12341000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:12326000-12333800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:12326200-12333800	Weak transcription	HSMMtube	muscle
41	chr12:12326200-12334400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:12326600-12334000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:12327800-12334000	Weak transcription	HMEC	breast
44	chr12:12327800-12334200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:12328000-12334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:12328200-12335600	Weak transcription	Stomach Mucosa	stomach
47	chr12:12328400-12335600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:12328400-12339800	Weak transcription	Ovary	ovary
49	chr12:12328600-12339000	Weak transcription	Fetal Intestine Small	intestine
50	chr12:12329000-12334800	Strong transcription	Liver	Liver

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