Variant report

Variant	rs12036146
Chromosome Location	chr1:85811689-85811690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12022538	0.85[ASN][1000 genomes]
rs12023006	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024405	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024508	0.85[ASN][1000 genomes]
rs12029474	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029684	0.94[ASN][1000 genomes]
rs12033170	0.89[ASN][1000 genomes]
rs12033473	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034206	0.94[ASN][1000 genomes]
rs12034481	0.94[ASN][1000 genomes]
rs12038279	0.90[ASN][1000 genomes]
rs12039188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042485	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043505	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043604	0.85[ASN][1000 genomes]
rs12045545	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047139	0.81[ASN][1000 genomes]
rs12047220	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048263	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049582	0.85[ASN][1000 genomes]
rs2300638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28847138	0.98[ASN][1000 genomes]
rs3813603	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489234	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:85799000-85813600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85800400-85815000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:85806400-85815800	Weak transcription	Pancreas	Pancrea
6	chr1:85806600-85813600	Weak transcription	Left Ventricle	heart
7	chr1:85806600-85814200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:85807600-85812200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:85807600-85813400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:85808200-85815800	Weak transcription	Aorta	Aorta
11	chr1:85808400-85816000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:85808600-85813600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:85809000-85815800	Weak transcription	Ovary	ovary
14	chr1:85809200-85813600	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:85809200-85813600	Weak transcription	Psoas Muscle	Psoas
16	chr1:85809200-85814800	Weak transcription	Fetal Stomach	stomach
17	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
18	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:85809800-85814800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:85809800-85815200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:85809800-85819000	Weak transcription	Brain Angular Gyrus	brain
25	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
27	chr1:85810200-85813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:85810200-85813600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:85810200-85813600	Weak transcription	NHLF	lung
30	chr1:85810200-85814600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:85810200-85816800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:85810200-85823600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:85810400-85811800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:85810400-85812400	Genic enhancers	NHDF-Ad	bronchial
35	chr1:85810400-85813600	Weak transcription	Liver	Liver
36	chr1:85810400-85813600	Weak transcription	Fetal Brain Male	brain
37	chr1:85810400-85813600	Weak transcription	Fetal Heart	heart
38	chr1:85810400-85813600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:85810400-85813600	Weak transcription	HepG2	liver
40	chr1:85810400-85814600	Weak transcription	Hela-S3	cervix
41	chr1:85810400-85815000	Weak transcription	Esophagus	oesophagus
42	chr1:85810400-85815800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:85810600-85812000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:85810600-85813600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:85810600-85814400	Weak transcription	NHEK	skin
46	chr1:85810600-85815000	Weak transcription	Adipose Nuclei	Adipose
47	chr1:85810600-85815000	Weak transcription	HMEC	breast
48	chr1:85810600-85819600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:85810600-85825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:85810800-85812200	Enhancers	HUVEC	blood vessel

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