Variant report

Variant	rs17121978
Chromosome Location	chr1:85602541-85602542
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	chr1:85600744..85602624-chr1:85606340..85608066,2	K562	blood:
2	chr1:85600190..85603293-chr1:85664973..85667718,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12022814	0.82[EUR][1000 genomes]
rs12034501	1.00[CEU][hapmap]
rs12036276	1.00[CEU][hapmap]
rs12041155	1.00[CEU][hapmap]
rs12043409	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12045141	1.00[CEU][hapmap]
rs1674179	0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs17099217	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17121656	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17121745	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17121935	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305930	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2305931	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28410552	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41289039	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57222060	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58659750	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59030463	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60866399	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs817430	0.86[JPT][hapmap]

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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85594800-85614400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:85598400-85603600	Weak transcription	Right Atrium	heart
3	chr1:85598400-85608400	Weak transcription	Pancreas	Pancrea
4	chr1:85598600-85608600	Weak transcription	Left Ventricle	heart
5	chr1:85599400-85604400	Enhancers	Fetal Intestine Large	intestine
6	chr1:85599600-85603800	Enhancers	Fetal Intestine Small	intestine
7	chr1:85599800-85602600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:85599800-85602800	Weak transcription	Fetal Heart	heart
9	chr1:85600200-85604000	Enhancers	Liver	Liver
10	chr1:85600600-85603800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:85600800-85602600	Weak transcription	Spleen	Spleen
12	chr1:85601000-85608400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:85601200-85604000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:85601400-85602600	Weak transcription	Fetal Brain Male	brain
15	chr1:85601400-85602800	Weak transcription	HepG2	liver
16	chr1:85601400-85603000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:85601400-85603600	Weak transcription	Fetal Lung	lung
18	chr1:85601600-85603400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:85601800-85603000	Enhancers	Colonic Mucosa	Colon
20	chr1:85602000-85602600	Enhancers	Lung	lung
21	chr1:85602000-85602800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:85602000-85603200	Enhancers	Fetal Kidney	kidney
23	chr1:85602000-85603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:85602000-85603400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:85602200-85602800	Weak transcription	Gastric	stomach
26	chr1:85602200-85603200	Weak transcription	Placenta	Placenta
27	chr1:85602200-85603400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:85602400-85602800	Enhancers	Small Intestine	intestine
29	chr1:85602400-85603400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:85602400-85604200	Enhancers	Duodenum Mucosa	Duodenum

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