Variant report

Variant	rs233111
Chromosome Location	chr1:85785655-85785656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10782548	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11587876	0.88[JPT][hapmap]
rs17127710	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs233046	0.87[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs233051	0.94[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233080	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233087	0.92[ASN][1000 genomes]
rs233128	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34278923	0.84[ASN][1000 genomes]
rs591917	0.90[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap]
rs648216	0.90[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap]
rs7532508	0.90[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes];0.94[ASN][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	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
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85774600-85785800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:85774600-85787000	Weak transcription	Fetal Stomach	stomach
3	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
4	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:85777400-85786400	Enhancers	NHLF	lung
8	chr1:85778200-85790400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:85778800-85786000	Enhancers	NHEK	skin
10	chr1:85778800-85788800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:85778800-85789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:85779600-85787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:85780000-85791800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:85780000-85795800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:85780200-85790400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:85780200-85795800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:85780400-85788200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:85780400-85791600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:85780400-85793200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:85780400-85795800	Weak transcription	Gastric	stomach
21	chr1:85780800-85786400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:85780800-85786400	Weak transcription	Right Ventricle	heart
23	chr1:85780800-85787600	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:85781000-85785800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:85781800-85786000	Weak transcription	Placenta	Placenta
26	chr1:85781800-85786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:85781800-85792800	Weak transcription	Pancreas	Pancrea
28	chr1:85782200-85790600	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr1:85782400-85785800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:85782400-85795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:85782800-85785800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:85782800-85786400	Weak transcription	Lung	lung
33	chr1:85782800-85794600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:85783000-85795800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:85783200-85786200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:85783200-85786200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:85783200-85786400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:85783200-85795800	Weak transcription	Aorta	Aorta
39	chr1:85783600-85786200	Weak transcription	HSMMtube	muscle
40	chr1:85783800-85786000	Enhancers	A549	lung
41	chr1:85783800-85786200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:85783800-85789800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:85783800-85791000	Genic enhancers	Osteobl	bone
44	chr1:85784000-85789600	Strong transcription	HepG2	liver
45	chr1:85784000-85790400	Weak transcription	Left Ventricle	heart
46	chr1:85784000-85794600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:85784400-85786000	Weak transcription	Fetal Heart	heart
48	chr1:85784400-85786400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:85784600-85794600	Weak transcription	Fetal Lung	lung
50	chr1:85784800-85787200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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