Variant report

Variant	rs233122
Chromosome Location	chr1:85790058-85790059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1045609	1.00[EUR][1000 genomes]
rs10489509	1.00[AMR][1000 genomes]
rs10489512	1.00[AMR][1000 genomes]
rs10873699	1.00[AMR][1000 genomes]
rs11161596	1.00[AMR][1000 genomes]
rs11799987	1.00[AMR][1000 genomes]
rs11802126	1.00[AMR][1000 genomes]
rs11802530	1.00[EUR][1000 genomes]
rs11805144	1.00[AMR][1000 genomes]
rs11805470	0.88[MKK][hapmap];1.00[AMR][1000 genomes]
rs11806483	1.00[AMR][1000 genomes]
rs11808537	1.00[EUR][1000 genomes]
rs11809053	1.00[AMR][1000 genomes]
rs11809833	1.00[EUR][1000 genomes]
rs11811186	1.00[AMR][1000 genomes]
rs12059670	1.00[AMR][1000 genomes]
rs12071648	1.00[AMR][1000 genomes]
rs12082194	1.00[AMR][1000 genomes]
rs17126044	0.88[MKK][hapmap];1.00[AMR][1000 genomes]
rs17126791	1.00[AMR][1000 genomes]
rs17127818	1.00[EUR][1000 genomes]
rs182845	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs20862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233043	0.92[ASW][hapmap];0.96[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs233044	0.92[ASW][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs233063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233064	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233084	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs233085	0.87[AFR][1000 genomes]
rs233088	0.87[AFR][1000 genomes]
rs233094	0.86[AFR][1000 genomes]
rs233126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233129	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2474121	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34609757	1.00[EUR][1000 genomes]
rs41438644	1.00[AMR][1000 genomes]
rs4399206	1.00[AMR][1000 genomes]
rs4564196	1.00[EUR][1000 genomes]
rs57053091	1.00[AMR][1000 genomes]
rs57527592	1.00[AMR][1000 genomes]
rs57769466	1.00[AMR][1000 genomes]
rs60176254	1.00[AMR][1000 genomes]
rs60202981	1.00[AMR][1000 genomes]
rs61473029	1.00[AMR][1000 genomes]
rs74098846	1.00[EUR][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	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
2	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:85778200-85790400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:85780000-85791800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:85780000-85795800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:85780200-85790400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:85780200-85795800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:85780400-85791600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:85780400-85793200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:85780400-85795800	Weak transcription	Gastric	stomach
13	chr1:85781800-85792800	Weak transcription	Pancreas	Pancrea
14	chr1:85782200-85790600	Genic enhancers	Muscle Satellite Cultured Cells	--
15	chr1:85782400-85795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:85782800-85794600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:85783000-85795800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:85783200-85795800	Weak transcription	Aorta	Aorta
19	chr1:85783800-85791000	Genic enhancers	Osteobl	bone
20	chr1:85784000-85790400	Weak transcription	Left Ventricle	heart
21	chr1:85784000-85794600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:85784600-85794600	Weak transcription	Fetal Lung	lung
23	chr1:85786200-85790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:85786400-85791200	Strong transcription	Fetal Intestine Small	intestine
25	chr1:85786600-85790400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:85786600-85790600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:85786600-85791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:85786600-85791600	Weak transcription	Fetal Kidney	kidney
29	chr1:85786800-85790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:85787200-85790600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:85787200-85793600	Weak transcription	HSMMtube	muscle
32	chr1:85787400-85790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:85787400-85790600	Weak transcription	Hela-S3	cervix
34	chr1:85787400-85791600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:85787600-85790800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:85787600-85791000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:85787600-85791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:85787600-85791400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:85788000-85790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:85788600-85790400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:85788600-85790600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:85788600-85790600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:85788600-85797400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:85788800-85790200	Weak transcription	A549	lung
45	chr1:85788800-85791000	Weak transcription	HMEC	breast
46	chr1:85788800-85791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:85788800-85791600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:85789000-85790600	Genic enhancers	HUVEC	blood vessel
49	chr1:85789000-85791000	Weak transcription	NHEK	skin
50	chr1:85789000-85791400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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