Variant report

Variant	rs17503335
Chromosome Location	chr1:92060264-92060265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92060019..92063789-chr1:92065058..92070338,4	K562	blood:
2	chr1:92059728..92061441-chr1:92068842..92071690,2	K562	blood:
3	chr1:92056853..92058906-chr1:92058997..92061738,3	K562	blood:
4	chr1:92038932..92042320-chr1:92059008..92062228,3	K562	blood:
5	chr1:92057409..92061312-chr1:92170673..92173610,3	K562	blood:

Variant related genes	Relation type
ENSG00000229067	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493854	0.84[ASN][1000 genomes]
rs10493855	0.92[ASN][1000 genomes]
rs10874796	0.81[ASN][1000 genomes]
rs11164971	0.86[ASN][1000 genomes]
rs11165002	0.81[ASN][1000 genomes]
rs11165008	0.81[ASN][1000 genomes]
rs12048543	0.81[ASN][1000 genomes]
rs12059556	0.84[ASN][1000 genomes]
rs17131500	0.92[ASN][1000 genomes]
rs1848435	0.86[ASN][1000 genomes]
rs4658235	0.81[ASN][1000 genomes]
rs4658238	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4658241	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4658243	0.83[EUR][1000 genomes]
rs56034708	0.98[ASN][1000 genomes]
rs58841613	0.81[ASN][1000 genomes]
rs6604045	0.81[ASN][1000 genomes]
rs6604046	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6659090	0.83[EUR][1000 genomes]
rs6677520	0.82[ASN][1000 genomes]
rs6681573	0.84[ASN][1000 genomes]
rs6681883	0.84[ASN][1000 genomes]
rs6686665	0.84[ASN][1000 genomes]
rs6688706	0.84[ASN][1000 genomes]
rs6691704	0.84[ASN][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92049600-92061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:92051800-92067600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:92055000-92060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:92055400-92061200	Enhancers	Ovary	ovary
5	chr1:92055600-92061400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:92056000-92062200	Enhancers	Fetal Heart	heart
8	chr1:92057200-92070400	Weak transcription	Psoas Muscle	Psoas
9	chr1:92057400-92060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:92057600-92061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:92057600-92063400	Enhancers	K562	blood
12	chr1:92057800-92061600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:92058400-92061800	Enhancers	Placenta	Placenta
14	chr1:92058800-92061400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:92059600-92066200	Weak transcription	Fetal Stomach	stomach
16	chr1:92059600-92067200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:92059800-92068800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:92060000-92060600	Enhancers	Lung	lung
19	chr1:92060000-92060600	Enhancers	Right Ventricle	heart
20	chr1:92060000-92060800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:92060000-92060800	Enhancers	Colon Smooth Muscle	Colon
22	chr1:92060000-92060800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:92060000-92060800	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:92060000-92060800	Enhancers	Right Atrium	heart
25	chr1:92060000-92060800	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:92060200-92060600	Weak transcription	Left Ventricle	heart

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