Variant report

Variant	rs17017761
Chromosome Location	chr1:211744536-211744537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211743190..211745097-chr1:211827808..211829565,2	MCF-7	breast:
2	chr1:211692734..211695713-chr1:211744143..211747035,2	MCF-7	breast:
3	chr1:211729557..211732599-chr1:211743450..211747456,3	K562	blood:
4	chr1:211698404..211701104-chr1:211743081..211745100,2	MCF-7	breast:
5	chr1:211742646..211744909-chr1:211759048..211760986,2	K562	blood:
6	chr1:211721060..211723722-chr1:211744392..211746338,2	K562	blood:
7	chr1:211694132..211696485-chr1:211743577..211746464,2	MCF-7	breast:
8	chr1:211738614..211743299-chr1:211744203..211747378,6	K562	blood:

No data

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119772	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs11553543	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12091351	1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs12562288	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017739	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs17017758	0.91[EUR][1000 genomes]
rs17017782	0.92[JPT][hapmap]
rs17838268	0.97[AFR][1000 genomes]
rs2278652	1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs3738198	1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs58859157	0.91[EUR][1000 genomes]
rs61336072	0.99[AFR][1000 genomes]
rs61632665	0.84[AFR][1000 genomes]
rs73075110	0.91[EUR][1000 genomes]
rs73075139	0.91[EUR][1000 genomes]
rs7515127	0.99[AFR][1000 genomes]
rs7519865	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7530862	0.91[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7531277	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543376	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211733800-211744800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:211734400-211748000	Weak transcription	Placenta	Placenta
3	chr1:211738800-211746000	Weak transcription	HepG2	liver
4	chr1:211738800-211748200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:211740200-211745800	Weak transcription	Hela-S3	cervix
6	chr1:211740400-211745400	Weak transcription	Liver	Liver
7	chr1:211741400-211744800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:211741400-211745200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:211741400-211747400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:211741400-211747400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:211741600-211744800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:211741600-211747400	Weak transcription	K562	blood
13	chr1:211741800-211746600	Weak transcription	NH-A	brain
14	chr1:211742200-211745400	Weak transcription	Osteobl	bone
15	chr1:211742200-211747000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:211742200-211748800	Weak transcription	HSMMtube	muscle
17	chr1:211742400-211745800	Weak transcription	HSMM	muscle
18	chr1:211742400-211748600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:211742600-211746000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:211742800-211744600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:211742800-211744600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:211742800-211745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:211742800-211745400	Weak transcription	NHDF-Ad	bronchial
24	chr1:211743000-211744800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:211743000-211744800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:211743000-211747200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:211743200-211744800	Weak transcription	A549	lung
28	chr1:211743200-211745000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:211743200-211745000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:211743200-211748400	Weak transcription	Fetal Lung	lung
31	chr1:211743400-211745000	Weak transcription	HMEC	breast
32	chr1:211743400-211745200	Weak transcription	Colonic Mucosa	Colon
33	chr1:211743400-211746000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:211743400-211746800	Weak transcription	NHLF	lung
35	chr1:211743600-211745400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:211743600-211746800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:211743800-211745000	Enhancers	GM12878-XiMat	blood
38	chr1:211743800-211746000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:211743800-211747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:211743800-211748000	Weak transcription	NHEK	skin
41	chr1:211743800-211748600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:211743800-211748800	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:211744000-211748000	Weak transcription	Primary B cells from cord blood	blood
44	chr1:211744200-211746400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:211744200-211747400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:211744400-211745400	Weak transcription	Fetal Intestine Small	intestine
47	chr1:211744400-211748600	Weak transcription	H1 Cell Line	embryonic stem cell

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