Variant report

Variant	rs1889145
Chromosome Location	chr1:56915820-56915821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56899641..56901431-chr1:56912878..56915864,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10888972	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11206815	0.91[EUR][1000 genomes]
rs1261410	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1964940	0.91[EUR][1000 genomes]
rs2151391	0.96[ASN][1000 genomes]
rs2184104	0.99[EUR][1000 genomes]
rs2780292	0.90[EUR][1000 genomes]
rs6421496	0.98[ASN][1000 genomes]
rs6421497	0.91[EUR][1000 genomes]
rs6588633	0.91[EUR][1000 genomes]
rs6684929	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687307	0.85[EUR][1000 genomes]
rs6688564	0.85[AFR][1000 genomes]
rs6691109	0.98[ASN][1000 genomes]
rs6693179	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698602	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7365290	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7365293	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7368386	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7513178	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7513411	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7525346	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7527084	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7535319	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1889145	ZYG11A	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56908400-56916800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:56910000-56916200	Enhancers	Liver	Liver
4	chr1:56912000-56916200	Enhancers	Right Atrium	heart
5	chr1:56912000-56916400	Enhancers	Hela-S3	cervix
6	chr1:56912000-56916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:56912000-56916600	Enhancers	Left Ventricle	heart
8	chr1:56912800-56918600	Weak transcription	Fetal Heart	heart
9	chr1:56912800-56922400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:56912800-56923400	Weak transcription	Spleen	Spleen
11	chr1:56913000-56916000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:56913200-56917400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:56913600-56917000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:56913800-56917000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:56913800-56917200	Weak transcription	Small Intestine	intestine
16	chr1:56913800-56917400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
18	chr1:56914200-56916200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:56914200-56916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:56914200-56916200	Enhancers	Lung	lung
21	chr1:56914200-56916200	Enhancers	Psoas Muscle	Psoas
22	chr1:56914200-56916400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:56914200-56917400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:56914200-56919800	Enhancers	Fetal Intestine Small	intestine
25	chr1:56914400-56919600	Enhancers	Fetal Intestine Large	intestine
26	chr1:56914600-56917800	Weak transcription	Fetal Kidney	kidney
27	chr1:56914600-56919800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:56914800-56916000	Enhancers	A549	lung
29	chr1:56914800-56916200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:56914800-56916200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:56914800-56916200	Enhancers	Right Ventricle	heart
32	chr1:56914800-56916400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:56914800-56916400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:56914800-56916600	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:56914800-56916600	Enhancers	Fetal Muscle Leg	muscle
36	chr1:56914800-56917200	Weak transcription	Fetal Lung	lung
37	chr1:56915000-56917200	Weak transcription	Pancreas	Pancrea
38	chr1:56915000-56922400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:56915200-56916000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:56915200-56917800	Weak transcription	NHDF-Ad	bronchial
41	chr1:56915200-56922400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:56915200-56935800	Weak transcription	NHLF	lung
43	chr1:56915400-56916000	Enhancers	Fetal Thymus	thymus
44	chr1:56915400-56916200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:56915400-56916200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:56915400-56916200	Enhancers	Esophagus	oesophagus
47	chr1:56915400-56916400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:56915400-56916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:56915400-56917400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:56915400-56917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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