Variant report

Variant	rs817135
Chromosome Location	chr1:193230577-193230578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193230026..193232497-chr1:193244244..193247099,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-5	chr1:193229687-193230635	NONHSAT008565

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1221501	0.86[AFR][1000 genomes]
rs12531	1.00[CEU][hapmap]
rs1536100	0.86[AFR][1000 genomes]
rs16835169	0.82[YRI][hapmap]
rs16835204	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2265555	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2477550	0.90[EUR][1000 genomes]
rs41305084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4657746	0.86[AFR][1000 genomes]
rs506721	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551862	0.90[AFR][1000 genomes]
rs56986460	0.93[AFR][1000 genomes]
rs60563043	0.81[EUR][1000 genomes]
rs6665739	0.81[YRI][hapmap]
rs6665751	0.81[YRI][hapmap]
rs74130935	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74130936	0.85[AFR][1000 genomes]
rs74130937	0.86[AFR][1000 genomes]
rs74130938	0.93[AFR][1000 genomes]
rs74130939	0.93[AFR][1000 genomes]
rs74130940	0.90[AFR][1000 genomes]
rs74130941	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130942	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518409	1.00[CEU][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7521045	1.00[EUR][1000 genomes]
rs7527486	0.81[EUR][1000 genomes]
rs7533841	0.81[EUR][1000 genomes]
rs7556154	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7556241	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs817134	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
4	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:193211000-193230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:193211400-193233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:193211600-193233400	Weak transcription	Fetal Stomach	stomach
8	chr1:193211600-193235000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
10	chr1:193217000-193231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:193217400-193232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:193217400-193232400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:193217600-193235200	Weak transcription	NHEK	skin
16	chr1:193217600-193235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:193218000-193233400	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:193218000-193239400	Weak transcription	Esophagus	oesophagus
19	chr1:193218200-193235000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:193218200-193236800	Weak transcription	A549	lung
21	chr1:193218400-193230800	Weak transcription	Thymus	Thymus
22	chr1:193218400-193233600	Weak transcription	Fetal Intestine Large	intestine
23	chr1:193218400-193233600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:193218400-193235600	Weak transcription	Placenta	Placenta
25	chr1:193218400-193239200	Weak transcription	Osteobl	bone
26	chr1:193218400-193239400	Weak transcription	Left Ventricle	heart
27	chr1:193218600-193231400	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:193218600-193237600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:193218800-193238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:193219000-193230600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:193219000-193232800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:193219000-193236400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:193219400-193233400	Weak transcription	HepG2	liver
35	chr1:193219600-193235000	Weak transcription	Liver	Liver
36	chr1:193219600-193235000	Weak transcription	K562	blood
37	chr1:193220000-193232800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:193220400-193237200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:193220600-193231800	Weak transcription	NH-A	brain
40	chr1:193220600-193239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:193221200-193233000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:193224600-193233400	Weak transcription	Fetal Brain Male	brain
44	chr1:193224600-193234400	Weak transcription	Fetal Intestine Small	intestine
45	chr1:193226800-193234600	Weak transcription	GM12878-XiMat	blood
46	chr1:193227000-193233400	Weak transcription	NHDF-Ad	bronchial
47	chr1:193227400-193232200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:193227600-193233400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:193227800-193231200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:193227800-193231800	Weak transcription	Primary T cells from cord blood	blood

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