Variant report

Variant	rs4105051
Chromosome Location	chr1:220542973-220542974
allele	A/G
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:23)

rs_ID	r²[population]
rs10157171	0.85[AFR][1000 genomes]
rs1022178	0.85[AFR][1000 genomes]
rs10746397	0.93[AFR][1000 genomes]
rs10863547	0.85[AFR][1000 genomes]
rs10863548	0.93[AFR][1000 genomes]
rs11118540	0.93[AFR][1000 genomes]
rs11118547	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12087378	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1338769	0.93[AFR][1000 genomes]
rs1338772	0.93[AFR][1000 genomes]
rs1511696	0.93[AFR][1000 genomes]
rs1578050	1.00[MEX][hapmap]
rs17007606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17007616	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17007924	1.00[MEX][hapmap]
rs1999935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1999937	0.93[AFR][1000 genomes]
rs2221832	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3860320	0.97[AFR][1000 genomes]
rs41274798	0.92[EUR][1000 genomes]
rs4282827	0.93[AFR][1000 genomes]
rs6684421	0.93[AFR][1000 genomes]
rs7554825	0.93[AFR][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220537000-220543400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:220537000-220544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:220540600-220544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:220541000-220543400	Enhancers	Hela-S3	cervix
5	chr1:220541000-220544400	Enhancers	HSMMtube	muscle
6	chr1:220541200-220544600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:220541200-220544600	Enhancers	NH-A	brain
8	chr1:220541200-220544600	Enhancers	NHDF-Ad	bronchial
9	chr1:220541400-220543000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:220541400-220544200	Enhancers	Fetal Kidney	kidney
11	chr1:220541400-220544400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:220541400-220544400	Enhancers	Osteobl	bone
13	chr1:220541400-220544600	Enhancers	NHLF	lung
14	chr1:220541400-220544800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:220541400-220545000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:220541400-220545000	Enhancers	HMEC	breast
17	chr1:220541600-220543400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:220541600-220543400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:220541600-220544000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:220541600-220544400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:220541600-220544400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:220541600-220544600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:220541600-220544800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:220541600-220544800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:220541600-220545000	Enhancers	Placenta	Placenta
26	chr1:220541600-220545200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:220541600-220545200	Enhancers	Fetal Muscle Leg	muscle
28	chr1:220541800-220543600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:220541800-220544000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:220541800-220544600	Enhancers	Right Atrium	heart
31	chr1:220541800-220545000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:220542000-220543600	Enhancers	NHEK	skin
33	chr1:220542200-220543200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:220542200-220544800	Enhancers	Left Ventricle	heart
35	chr1:220542400-220543400	Weak transcription	Fetal Stomach	stomach
36	chr1:220542400-220543600	Weak transcription	Right Ventricle	heart
37	chr1:220542400-220544400	Enhancers	Adipose Nuclei	Adipose
38	chr1:220542400-220544600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:220542400-220544800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:220542400-220552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:220542600-220543000	Weak transcription	HSMM	muscle
42	chr1:220542600-220543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:220542600-220543600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:220542600-220543800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:220542600-220543800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:220542600-220544200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:220542600-220544800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:220542800-220543200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:220542800-220543200	Weak transcription	Spleen	Spleen
50	chr1:220542800-220543800	Weak transcription	Esophagus	oesophagus

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