Variant report

Variant	rs10157171
Chromosome Location	chr1:220541798-220541799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220536671..220538560-chr1:220540237..220541993,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157169	0.81[AFR][1000 genomes]
rs1022178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10746397	0.85[AFR][1000 genomes]
rs10863547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10863548	0.85[AFR][1000 genomes]
rs11118540	0.85[AFR][1000 genomes]
rs1338769	0.85[AFR][1000 genomes]
rs1338772	0.85[AFR][1000 genomes]
rs1511696	0.85[AFR][1000 genomes]
rs1578050	1.00[ASW][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap]
rs17007924	1.00[MEX][hapmap]
rs1999935	0.82[AFR][1000 genomes]
rs1999937	0.85[AFR][1000 genomes]
rs2221832	0.82[AFR][1000 genomes]
rs3860320	0.89[AFR][1000 genomes]
rs4105051	0.85[AFR][1000 genomes]
rs4282827	0.85[AFR][1000 genomes]
rs6684421	0.85[AFR][1000 genomes]
rs7554825	0.85[AFR][1000 genomes]
rs907417	0.92[AFR][1000 genomes];1.00[AMR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220531600-220542200	Weak transcription	Left Ventricle	heart
2	chr1:220536800-220541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:220537000-220543400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:220537000-220544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:220537200-220542200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:220537600-220541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:220540600-220544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:220541000-220542800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:220541000-220543400	Enhancers	Hela-S3	cervix
10	chr1:220541000-220544400	Enhancers	HSMMtube	muscle
11	chr1:220541200-220544600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:220541200-220544600	Enhancers	NH-A	brain
13	chr1:220541200-220544600	Enhancers	NHDF-Ad	bronchial
14	chr1:220541400-220542400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:220541400-220542600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:220541400-220542600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:220541400-220543000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:220541400-220544200	Enhancers	Fetal Kidney	kidney
19	chr1:220541400-220544400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:220541400-220544400	Enhancers	Osteobl	bone
21	chr1:220541400-220544600	Enhancers	NHLF	lung
22	chr1:220541400-220544800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:220541400-220545000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:220541400-220545000	Enhancers	HMEC	breast
25	chr1:220541600-220542200	Enhancers	GM12878-XiMat	blood
26	chr1:220541600-220542400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:220541600-220542400	Enhancers	Right Ventricle	heart
28	chr1:220541600-220542800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:220541600-220542800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:220541600-220542800	Enhancers	Psoas Muscle	Psoas
31	chr1:220541600-220543400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:220541600-220543400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:220541600-220544000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:220541600-220544400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:220541600-220544400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:220541600-220544600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:220541600-220544800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:220541600-220544800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:220541600-220545000	Enhancers	Placenta	Placenta
40	chr1:220541600-220545200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:220541600-220545200	Enhancers	Fetal Muscle Leg	muscle

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