Variant report

Variant	rs35240561
Chromosome Location	chr1:85775217-85775218
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85775211..85778145-chr1:85779507..85781328,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10782550	0.85[ASN][1000 genomes]
rs11161597	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161599	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801146	0.82[ASN][1000 genomes]
rs12118950	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12120551	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12122816	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123745	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12125900	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12128907	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12129502	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12130145	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12130591	0.90[ASN][1000 genomes]
rs12132677	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12133722	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12135333	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12138621	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138852	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12139958	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140170	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12140272	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140457	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12140935	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12717763	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12724823	0.90[ASN][1000 genomes]
rs12736004	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12743049	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12757160	0.84[AMR][1000 genomes]
rs12758237	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12758768	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498374	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608536	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17384381	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17388521	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076699	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300639	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300640	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28529751	0.90[ASN][1000 genomes]
rs34561661	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35193119	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35761966	0.90[ASN][1000 genomes]
rs36110608	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3768223	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71652696	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85772800-85779800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85773600-85775400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:85773600-85775600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:85774000-85779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:85774400-85775400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:85774400-85775400	Enhancers	Osteobl	bone
7	chr1:85774400-85775600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:85774400-85777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:85774400-85778000	Weak transcription	HMEC	breast
10	chr1:85774400-85779400	Weak transcription	Aorta	Aorta
11	chr1:85774600-85776600	Enhancers	HUVEC	blood vessel
12	chr1:85774600-85777400	Weak transcription	HSMMtube	muscle
13	chr1:85774600-85777400	Weak transcription	NHLF	lung
14	chr1:85774600-85777600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:85774600-85777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:85774600-85777600	Weak transcription	Right Ventricle	heart
17	chr1:85774600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:85774600-85777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:85774600-85779000	Weak transcription	Fetal Heart	heart
20	chr1:85774600-85779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:85774600-85779400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:85774600-85779600	Weak transcription	Fetal Lung	lung
23	chr1:85774600-85779600	Weak transcription	Ovary	ovary
24	chr1:85774600-85779800	Weak transcription	Placenta	Placenta
25	chr1:85774600-85779800	Weak transcription	Right Atrium	heart
26	chr1:85774600-85780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:85774600-85780000	Weak transcription	Lung	lung
28	chr1:85774600-85780000	Weak transcription	Pancreas	Pancrea
29	chr1:85774600-85780000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:85774600-85780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:85774600-85782400	Weak transcription	Fetal Intestine Small	intestine
32	chr1:85774600-85785200	Weak transcription	Liver	Liver
33	chr1:85774600-85785800	Weak transcription	Fetal Intestine Large	intestine
34	chr1:85774600-85787000	Weak transcription	Fetal Stomach	stomach
35	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
36	chr1:85774800-85777400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:85774800-85777400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:85774800-85777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:85774800-85777600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:85774800-85777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:85774800-85777600	Weak transcription	Fetal Brain Female	brain
42	chr1:85774800-85777600	Weak transcription	NHDF-Ad	bronchial
43	chr1:85774800-85777800	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:85774800-85777800	Weak transcription	Psoas Muscle	Psoas
45	chr1:85774800-85777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:85774800-85779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:85774800-85779600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:85774800-85782200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:85774800-85782200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:85774800-85784000	Weak transcription	HepG2	liver

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