Variant report

Variant	rs3010014
Chromosome Location	chr1:212228845-212228846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:212228475-212229695	K562	blood:	n/a	n/a
2	KAP1	chr1:212228571-212229058	K562	blood:	n/a	n/a
3	SETDB1	chr1:212228617-212229546	K562	blood:	n/a	n/a
4	POLR2A	chr1:212228729-212229363	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:212228615-212228926	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:212228583-212229952	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:212228593-212229686	HL-60	blood:	n/a	n/a
8	POLR2A	chr1:212228708-212229549	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:212228783-212228864	Gliobla	brain:	n/a	n/a
10	SETDB1	chr1:212228409-212231670	K562	blood:	n/a	n/a
11	POLR2A	chr1:212228807-212229384	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:212228108-212230032	K562	blood:	n/a	n/a
13	POLR2A	chr1:212228728-212229438	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:212228631-212229747	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:212228734-212229264	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:212228603-212229771	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr1:212228827-212229335	K562	blood:	n/a	n/a
18	POLR2A	chr1:212228599-212229732	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:212228212-212233601	K562	blood:	n/a	n/a
20	POLR2A	chr1:212228739-212229258	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:212228142-212230048	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212227506..212231237-chr1:212233553..212238482,7	K562	blood:
2	chr1:212223004..212226012-chr1:212226300..212230375,4	K562	blood:
3	chr1:212219058..212220568-chr1:212226723..212229507,2	K562	blood:
4	chr1:212225925..212230498-chr1:212230640..212238482,9	K562	blood:

No data

Variant related genes	Relation type
RPL21P28	TF binding region
ENSG00000220749	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1017979	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10863933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863938	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1586660	0.88[GIH][hapmap];1.00[TSI][hapmap]
rs2788128	1.00[AMR][1000 genomes]
rs2788129	1.00[AMR][1000 genomes]
rs2788130	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2788131	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2788134	1.00[AMR][1000 genomes]
rs2788135	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs2788136	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2788137	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2788141	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2788142	1.00[CEU][hapmap]
rs2808380	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs2808383	1.00[CEU][hapmap]
rs2808384	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2808387	1.00[AMR][1000 genomes]
rs2808388	0.88[GIH][hapmap];1.00[TSI][hapmap]
rs2808390	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2970573	1.00[AMR][1000 genomes]
rs2970574	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2970575	1.00[AMR][1000 genomes]
rs2970576	1.00[CEU][hapmap]
rs2970585	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970588	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970591	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970596	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2970597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970598	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970600	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970602	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993524	1.00[CEU][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993525	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993527	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993530	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993532	0.82[EUR][1000 genomes]
rs2993535	0.88[GIH][hapmap];1.00[TSI][hapmap]
rs2993536	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993537	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993540	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2993542	1.00[AMR][1000 genomes]
rs2993543	1.00[CEU][hapmap]
rs2993546	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993548	1.00[AMR][1000 genomes]
rs2993549	1.00[CEU][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009986	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009990	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009992	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009993	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009994	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009995	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009996	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009998	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010000	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010001	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010005	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs3010008	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs3010015	1.00[CEU][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010017	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010018	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010019	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010020	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010029	1.00[TSI][hapmap]
rs4309042	0.82[EUR][1000 genomes]
rs4397712	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4951437	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4951565	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6540717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540718	1.00[AMR][1000 genomes]
rs6656826	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6658972	1.00[CEU][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6660399	1.00[AMR][1000 genomes]
rs6672030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6683980	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704044	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7532954	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7545292	0.88[GIH][hapmap];1.00[TSI][hapmap]
rs7551276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212209600-212253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:212210600-212229200	Weak transcription	Fetal Brain Female	brain
3	chr1:212210800-212241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:212211400-212229200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:212212000-212229200	Weak transcription	Fetal Kidney	kidney
6	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:212215600-212229200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:212215600-212233000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:212215800-212229000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:212216000-212229200	Strong transcription	Fetal Thymus	thymus
11	chr1:212216200-212233200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:212216400-212229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:212216800-212229000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr1:212217000-212232800	Strong transcription	Dnd41	blood
15	chr1:212218000-212231000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:212218000-212231800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:212220600-212229200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:212225400-212229000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:212225400-212230000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:212225800-212230000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:212226200-212229000	Strong transcription	Primary hematopoietic stem cells	blood
22	chr1:212226200-212233000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:212226200-212233000	ZNF genes & repeats	K562	blood
24	chr1:212226400-212230000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:212226600-212229000	Strong transcription	Fetal Stomach	stomach
26	chr1:212226600-212229200	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:212226600-212230400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:212226600-212237600	Weak transcription	NHDF-Ad	bronchial
29	chr1:212226800-212229800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:212227000-212229400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:212227000-212230000	Strong transcription	HMEC	breast
32	chr1:212227000-212230600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:212227200-212230000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:212227200-212230000	Strong transcription	NHEK	skin
35	chr1:212227200-212230800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:212227200-212231200	Strong transcription	HepG2	liver
37	chr1:212227400-212229000	Strong transcription	Thymus	Thymus
38	chr1:212227400-212229200	Strong transcription	Fetal Lung	lung
39	chr1:212227400-212229800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr1:212227400-212230000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:212227600-212230000	Strong transcription	Osteobl	bone
42	chr1:212227600-212230600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:212227800-212229400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:212228000-212229200	Strong transcription	NH-A	brain
45	chr1:212228200-212229400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:212228200-212231200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr1:212228200-212231400	ZNF genes & repeats	GM12878-XiMat	blood
48	chr1:212228400-212229600	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr1:212228400-212229600	Strong transcription	NHLF	lung
50	chr1:212228400-212229800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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