Variant report

Variant	rs10921331
Chromosome Location	chr1:193228075-193228076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:
2	chr1:193216941..193221237-chr1:193223372..193228455,4	K562	blood:
3	chr1:193026590..193028368-chr1:193225578..193228087,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-5	chr1:193227477-193228190	NONHSAT008565

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10489686	1.00[AFR][1000 genomes]
rs10494675	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10801170	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10801186	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12116651	1.00[AFR][1000 genomes]
rs12119992	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12122868	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123069	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123511	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12123750	1.00[CEU][hapmap]
rs12123793	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12123970	1.00[AFR][1000 genomes]
rs12124921	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12124924	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129126	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12133955	1.00[AFR][1000 genomes]
rs12134846	1.00[CEU][hapmap]
rs12135148	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135670	1.00[CEU][hapmap]
rs12137353	1.00[AFR][1000 genomes]
rs12137391	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap]
rs12141336	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141455	1.00[AFR][1000 genomes]
rs12141559	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143361	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145101	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12145609	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145761	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1325196	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17526825	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17528639	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17592121	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17592633	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17593120	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17593414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17601491	1.00[AFR][1000 genomes]
rs28930673	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28930674	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs528790	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6663374	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6685991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738589	1.00[AFR][1000 genomes]
rs72740227	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740228	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740230	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740259	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740261	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740270	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740276	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7525157	0.94[EUR][1000 genomes]
rs817137	0.97[EUR][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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
3	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
5	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
6	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:193210800-193228200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:193210800-193229200	Weak transcription	Gastric	stomach
11	chr1:193211000-193230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:193211400-193233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:193211600-193233400	Weak transcription	Fetal Stomach	stomach
14	chr1:193211600-193235000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
16	chr1:193217000-193229200	Weak transcription	NHLF	lung
17	chr1:193217000-193231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:193217400-193228600	Weak transcription	Ovary	ovary
21	chr1:193217400-193232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:193217400-193232400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:193217600-193235200	Weak transcription	NHEK	skin
24	chr1:193217600-193235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:193218000-193233400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:193218000-193239400	Weak transcription	Esophagus	oesophagus
27	chr1:193218200-193229200	Strong transcription	HSMM	muscle
28	chr1:193218200-193235000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:193218200-193236800	Weak transcription	A549	lung
30	chr1:193218400-193230800	Weak transcription	Thymus	Thymus
31	chr1:193218400-193233600	Weak transcription	Fetal Intestine Large	intestine
32	chr1:193218400-193233600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:193218400-193235600	Weak transcription	Placenta	Placenta
34	chr1:193218400-193239200	Weak transcription	Osteobl	bone
35	chr1:193218400-193239400	Weak transcription	Left Ventricle	heart
36	chr1:193218600-193229000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:193218600-193229200	Weak transcription	HSMMtube	muscle
38	chr1:193218600-193231400	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:193218600-193237600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:193218800-193238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:193219000-193230600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:193219000-193232800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:193219000-193236400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:193219200-193228600	Weak transcription	Brain Anterior Caudate	brain
46	chr1:193219400-193229400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:193219400-193233400	Weak transcription	HepG2	liver
48	chr1:193219600-193235000	Weak transcription	Liver	Liver
49	chr1:193219600-193235000	Weak transcription	K562	blood
50	chr1:193220000-193232800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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