Variant report

Variant	rs11120334
Chromosome Location	chr1:214638965-214638966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10746445	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746446	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4130486	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4233305	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233307	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4253891	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4301608	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4421564	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4451529	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4465172	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4539105	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6540831	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6540836	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6540839	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6540840	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6665797	0.86[EUR][1000 genomes]
rs6682987	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7528679	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7528775	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7528800	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7535598	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7537159	0.81[ASN][1000 genomes]
rs7537274	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7555415	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][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	esv275028	chr1:214637808-214639253	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214613000-214649400	Weak transcription	Lung	lung
2	chr1:214621000-214639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:214625800-214644800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:214627200-214640000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:214628600-214640600	Weak transcription	Right Atrium	heart
6	chr1:214628800-214639400	Weak transcription	Stomach Mucosa	stomach
7	chr1:214629200-214644800	Weak transcription	Psoas Muscle	Psoas
8	chr1:214634200-214640000	Weak transcription	Fetal Kidney	kidney
9	chr1:214634400-214639800	Weak transcription	Fetal Lung	lung
10	chr1:214634400-214639800	Weak transcription	A549	lung
11	chr1:214634400-214640000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:214634400-214644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:214634400-214645000	Weak transcription	HUVEC	blood vessel
14	chr1:214634400-214646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:214634800-214640000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:214635800-214645000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:214636200-214640600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:214637000-214639800	Weak transcription	NH-A	brain
19	chr1:214637000-214640200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:214637200-214639800	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:214637200-214640000	Weak transcription	NHDF-Ad	bronchial
22	chr1:214637200-214645000	Weak transcription	Esophagus	oesophagus
23	chr1:214637400-214639600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:214637400-214641400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:214637800-214640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:214638000-214639800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:214638000-214639800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:214638200-214639000	Genic enhancers	Osteobl	bone
29	chr1:214638200-214639600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:214638200-214639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:214638200-214639800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:214638200-214639800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:214638200-214639800	Weak transcription	Adipose Nuclei	Adipose
34	chr1:214638200-214639800	Weak transcription	Fetal Intestine Small	intestine
35	chr1:214638200-214639800	Weak transcription	Ovary	ovary
36	chr1:214638200-214639800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:214638200-214640000	Weak transcription	Fetal Intestine Large	intestine
38	chr1:214638200-214640000	Weak transcription	Pancreas	Pancrea
39	chr1:214638200-214640200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:214638200-214642200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:214638200-214644400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:214638200-214644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:214638200-214645400	Weak transcription	Left Ventricle	heart
44	chr1:214638200-214645600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:214638200-214645800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:214638200-214647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:214638200-214649200	Weak transcription	Aorta	Aorta
48	chr1:214638400-214639400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:214638400-214639800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:214638400-214639800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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