Variant report

Variant	rs12089972
Chromosome Location	chr1:209818762-209818763
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209805910..209807493-chr1:209818305..209821287,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489340	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10863778	0.99[ASN][1000 genomes]
rs12073223	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12090288	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12403733	0.80[EUR][1000 genomes]
rs12410975	0.86[EUR][1000 genomes]
rs17014889	0.80[EUR][1000 genomes]
rs17014906	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014942	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014955	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17015006	0.95[AMR][1000 genomes]
rs2072937	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2072939	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2072942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076219	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076222	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076232	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076347	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076348	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076352	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2229466	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2235542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236889	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2236890	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282734	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282736	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282737	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298924	0.99[ASN][1000 genomes]
rs2298927	0.99[ASN][1000 genomes]
rs2298929	0.99[ASN][1000 genomes]
rs36051870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58679997	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59815577	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60927005	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs714971	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv2762140	chr1:209816331-209830347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209801600-209819800	Weak transcription	Lung	lung
2	chr1:209814200-209821400	Enhancers	Fetal Muscle Trunk	muscle
3	chr1:209814200-209825000	Enhancers	Fetal Muscle Leg	muscle
4	chr1:209814400-209823200	Genic enhancers	Fetal Intestine Large	intestine
5	chr1:209814600-209818800	Enhancers	Fetal Kidney	kidney
6	chr1:209814600-209820600	Enhancers	Adipose Nuclei	Adipose
7	chr1:209814600-209820800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:209814600-209822400	Genic enhancers	Fetal Intestine Small	intestine
9	chr1:209814600-209823200	Enhancers	Fetal Heart	heart
10	chr1:209814600-209826800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:209814800-209819400	Enhancers	Brain Germinal Matrix	brain
12	chr1:209814800-209819400	Strong transcription	Hela-S3	cervix
13	chr1:209814800-209820400	Enhancers	Placenta	Placenta
14	chr1:209814800-209821000	Enhancers	Fetal Brain Male	brain
15	chr1:209815200-209819200	Enhancers	Fetal Lung	lung
16	chr1:209815200-209820400	Weak transcription	Gastric	stomach
17	chr1:209815400-209819000	Weak transcription	HSMM	muscle
18	chr1:209815400-209819200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:209815400-209819400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:209815400-209819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:209815800-209821800	Weak transcription	HUVEC	blood vessel
22	chr1:209816000-209819000	Enhancers	K562	blood
23	chr1:209816000-209820800	Enhancers	Fetal Thymus	thymus
24	chr1:209816000-209824200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
25	chr1:209816200-209819200	Genic enhancers	NHEK	skin
26	chr1:209816200-209820800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:209816200-209821600	Enhancers	Right Ventricle	heart
28	chr1:209816400-209820000	Enhancers	Fetal Brain Female	brain
29	chr1:209817000-209819200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:209817000-209819200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:209817000-209820000	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr1:209817000-209825400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:209817200-209819000	Weak transcription	HSMMtube	muscle
34	chr1:209817200-209819200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:209817400-209819200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:209817400-209819200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:209817400-209824600	Weak transcription	Aorta	Aorta
38	chr1:209817600-209819200	Weak transcription	Esophagus	oesophagus
39	chr1:209817600-209819200	Weak transcription	Stomach Mucosa	stomach
40	chr1:209817600-209819200	Weak transcription	NHLF	lung
41	chr1:209817600-209819800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:209817600-209819800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:209817600-209819800	Weak transcription	Osteobl	bone
44	chr1:209817600-209820000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:209817600-209821800	Weak transcription	Colonic Mucosa	Colon
46	chr1:209817600-209821800	Weak transcription	Small Intestine	intestine
47	chr1:209817600-209822400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:209817600-209824800	Transcr. at gene 5' and 3'	HMEC	breast
49	chr1:209817800-209819400	Weak transcription	Brain Anterior Caudate	brain
50	chr1:209817800-209822800	Weak transcription	Brain Hippocampus Middle	brain

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