Variant report

Variant	rs2970598
Chromosome Location	chr1:212231122-212231123
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212227506..212231237-chr1:212233553..212238482,7	K562	blood:
2	chr1:212230913..212233313-chr1:212635726..212638248,2	K562	blood:
3	chr1:212222695..212225632-chr1:212230694..212232912,2	K562	blood:
4	chr1:212225925..212230498-chr1:212230640..212238482,9	K562	blood:

Variant related genes	Relation type
ENSG00000220749	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10863933	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863934	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863938	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788128	1.00[AMR][1000 genomes]
rs2788129	1.00[AMR][1000 genomes]
rs2788130	1.00[AMR][1000 genomes]
rs2788131	1.00[AMR][1000 genomes]
rs2788134	1.00[AMR][1000 genomes]
rs2788136	1.00[AMR][1000 genomes]
rs2788137	1.00[AMR][1000 genomes]
rs2808384	1.00[AMR][1000 genomes]
rs2808387	1.00[AMR][1000 genomes]
rs2808390	1.00[AMR][1000 genomes]
rs2970573	1.00[AMR][1000 genomes]
rs2970574	1.00[AMR][1000 genomes]
rs2970575	1.00[AMR][1000 genomes]
rs2970585	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970588	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970596	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2970597	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970600	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970602	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993527	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993530	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993532	0.82[EUR][1000 genomes]
rs2993536	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993537	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993540	1.00[AMR][1000 genomes]
rs2993542	1.00[AMR][1000 genomes]
rs2993546	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993548	1.00[AMR][1000 genomes]
rs2993549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009986	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009990	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009992	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009993	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009995	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009996	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009998	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009999	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010000	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010001	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010005	0.82[EUR][1000 genomes]
rs3010008	1.00[AMR][1000 genomes]
rs3010014	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010017	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4309042	0.82[EUR][1000 genomes]
rs4951437	1.00[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540718	1.00[AMR][1000 genomes]
rs6656826	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6658972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6672030	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6683980	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7532954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551276	0.80[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:64 , 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	chr1:212210800-212241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:212215600-212233000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:212216200-212233200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:212217000-212232800	Strong transcription	Dnd41	blood
7	chr1:212218000-212231800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:212226200-212233000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212226200-212233000	ZNF genes & repeats	K562	blood
10	chr1:212226600-212237600	Weak transcription	NHDF-Ad	bronchial
11	chr1:212227200-212231200	Strong transcription	HepG2	liver
12	chr1:212228200-212231200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr1:212228200-212231400	ZNF genes & repeats	GM12878-XiMat	blood
14	chr1:212228600-212231600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr1:212228600-212231800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:212228600-212237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:212228800-212231400	Strong transcription	HSMM	muscle
18	chr1:212229000-212231400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr1:212229200-212231400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:212229200-212237800	Weak transcription	NH-A	brain
21	chr1:212229400-212231600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr1:212229400-212231600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:212229600-212255400	Weak transcription	NHLF	lung
24	chr1:212229600-212266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:212229800-212231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:212229800-212231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:212229800-212231600	Strong transcription	Fetal Thymus	thymus
28	chr1:212229800-212232800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:212229800-212236800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:212229800-212237600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:212229800-212243400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:212229800-212255800	Weak transcription	Thymus	Thymus
33	chr1:212229800-212261000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:212229800-212261200	Weak transcription	Fetal Stomach	stomach
35	chr1:212229800-212261400	Weak transcription	Fetal Intestine Small	intestine
36	chr1:212229800-212263000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:212229800-212266400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:212230000-212231600	Weak transcription	Fetal Kidney	kidney
39	chr1:212230000-212237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:212230000-212237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:212230000-212238800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:212230000-212239400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:212230000-212242200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:212230000-212243400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:212230000-212249800	Weak transcription	NHEK	skin
46	chr1:212230000-212255200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:212230000-212255400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:212230000-212261200	Weak transcription	Osteobl	bone
49	chr1:212230000-212265200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:212230200-212231200	Strong transcription	A549	lung

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