Variant report

Variant	rs2970596
Chromosome Location	chr1:212230497-212230498
allele	C/T
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	chr1:212208792..212210406-chr1:212229258..212230902,2	K562	blood:
3	chr1:212225925..212230498-chr1:212230640..212238482,9	K562	blood:

Variant related genes	Relation type
ENSG00000143476	Chromatin interaction
ENSG00000143493	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10863933	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10863934	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10863938	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10863940	1.00[EUR][1000 genomes]
rs12086580	1.00[AMR][1000 genomes]
rs2970585	0.82[EUR][1000 genomes]
rs2970586	1.00[EUR][1000 genomes]
rs2970588	0.94[EUR][1000 genomes]
rs2970590	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2970591	1.00[EUR][1000 genomes]
rs2970594	1.00[EUR][1000 genomes]
rs2970597	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2970598	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2970600	0.82[EUR][1000 genomes]
rs2970602	0.82[EUR][1000 genomes]
rs2993524	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993525	1.00[EUR][1000 genomes]
rs2993526	1.00[EUR][1000 genomes]
rs2993527	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993530	0.82[EUR][1000 genomes]
rs2993532	0.82[EUR][1000 genomes]
rs2993536	0.82[EUR][1000 genomes]
rs2993537	0.82[EUR][1000 genomes]
rs2993546	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993549	1.00[EUR][1000 genomes]
rs3009983	1.00[EUR][1000 genomes]
rs3009986	0.82[EUR][1000 genomes]
rs3009990	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3009992	0.82[EUR][1000 genomes]
rs3009993	0.82[EUR][1000 genomes]
rs3009994	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3009995	0.82[EUR][1000 genomes]
rs3009996	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3009998	0.82[EUR][1000 genomes]
rs3009999	0.82[EUR][1000 genomes]
rs3010000	0.82[EUR][1000 genomes]
rs3010001	0.82[EUR][1000 genomes]
rs3010005	0.82[EUR][1000 genomes]
rs3010014	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3010015	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3010017	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3010018	1.00[EUR][1000 genomes]
rs3010019	1.00[EUR][1000 genomes]
rs3010020	1.00[EUR][1000 genomes]
rs3010021	1.00[EUR][1000 genomes]
rs3010022	1.00[EUR][1000 genomes]
rs4309042	0.82[EUR][1000 genomes]
rs4951437	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4951565	0.97[EUR][1000 genomes]
rs6540717	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6656826	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6658972	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6672030	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6683980	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6704044	1.00[EUR][1000 genomes]
rs72748559	1.00[AMR][1000 genomes]
rs7532954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7551276	0.80[AFR][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:65 , 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	chr1:212218000-212231000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:212218000-212231800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:212226200-212233000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212226200-212233000	ZNF genes & repeats	K562	blood
11	chr1:212226600-212237600	Weak transcription	NHDF-Ad	bronchial
12	chr1:212227000-212230600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:212227200-212230800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:212227200-212231200	Strong transcription	HepG2	liver
15	chr1:212227600-212230600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:212228200-212231200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr1:212228200-212231400	ZNF genes & repeats	GM12878-XiMat	blood
18	chr1:212228600-212231600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr1:212228600-212231800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:212228600-212237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:212228800-212230600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:212228800-212231400	Strong transcription	HSMM	muscle
23	chr1:212229000-212230600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:212229000-212231400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr1:212229200-212231400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:212229200-212237800	Weak transcription	NH-A	brain
27	chr1:212229400-212231600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:212229400-212231600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:212229600-212230600	Strong transcription	Hela-S3	cervix
30	chr1:212229600-212255400	Weak transcription	NHLF	lung
31	chr1:212229600-212266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:212229800-212230800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:212229800-212231000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:212229800-212231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:212229800-212231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:212229800-212231600	Strong transcription	Fetal Thymus	thymus
37	chr1:212229800-212232800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:212229800-212236800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:212229800-212237600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:212229800-212243400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:212229800-212255800	Weak transcription	Thymus	Thymus
42	chr1:212229800-212261000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:212229800-212261200	Weak transcription	Fetal Stomach	stomach
44	chr1:212229800-212261400	Weak transcription	Fetal Intestine Small	intestine
45	chr1:212229800-212263000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:212229800-212266400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:212230000-212231000	Weak transcription	Fetal Lung	lung
48	chr1:212230000-212231000	Weak transcription	HMEC	breast
49	chr1:212230000-212231600	Weak transcription	Fetal Kidney	kidney
50	chr1:212230000-212237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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