Variant report

Variant	rs61919485
Chromosome Location	chr12:62926773-62926774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506442	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10506443	0.90[ASN][1000 genomes]
rs11614276	0.87[ASN][1000 genomes]
rs12146793	0.90[ASN][1000 genomes]
rs12371458	0.95[ASN][1000 genomes]
rs12423344	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12424006	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12427111	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17097966	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17098038	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120341	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1982991	0.95[ASN][1000 genomes]
rs4763172	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4763173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763176	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57715507	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59191400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61556144	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61919477	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61919478	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61919479	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61921903	0.81[AMR][1000 genomes]
rs61921904	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61921905	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61921908	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61921909	0.90[ASN][1000 genomes]
rs61921910	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61921911	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61921913	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61921914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7136696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309338	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7316437	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73323255	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7958721	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964791	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965328	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969992	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
3	chr12:62876000-62937400	Weak transcription	Gastric	stomach
4	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
5	chr12:62897600-62931000	Weak transcription	K562	blood
6	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
7	chr12:62902400-62929200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:62902600-62927000	Weak transcription	Colonic Mucosa	Colon
9	chr12:62903600-62949800	Weak transcription	NHEK	skin
10	chr12:62904600-62927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:62904600-62929200	Weak transcription	HUVEC	blood vessel
12	chr12:62906400-62943800	Weak transcription	Aorta	Aorta
13	chr12:62906600-62931600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:62906800-62927400	Weak transcription	Brain Germinal Matrix	brain
15	chr12:62907000-62926800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:62907000-62927800	Weak transcription	Lung	lung
17	chr12:62907000-62931000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:62907400-62940200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:62908200-62927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:62908400-62931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:62908800-62927400	Weak transcription	Left Ventricle	heart
23	chr12:62909000-62927200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:62909000-62927200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:62909400-62927400	Weak transcription	Fetal Kidney	kidney
26	chr12:62910600-62927000	Weak transcription	Fetal Brain Female	brain
27	chr12:62911400-62944000	Weak transcription	Spleen	Spleen
28	chr12:62911800-62930400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:62914000-62927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:62914200-62941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:62915400-62927000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:62915400-62927200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:62915800-62930200	Weak transcription	Fetal Stomach	stomach
34	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:62917000-62940600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
37	chr12:62917400-62960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:62917600-62927200	Weak transcription	Stomach Mucosa	stomach
39	chr12:62917800-62930200	Weak transcription	Fetal Intestine Small	intestine
40	chr12:62918400-62926800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:62918600-62927200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:62919400-62937200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:62919600-62927200	Weak transcription	Primary T cells from cord blood	blood
44	chr12:62919600-62927200	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:62919600-62937200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:62919800-62927200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:62920000-62927200	Weak transcription	Thymus	Thymus
49	chr12:62920000-62950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:62923000-62927200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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