Variant report

Variant	rs2993543
Chromosome Location	chr1:212105854-212105855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:212105607-212105933	GM12891	blood:	n/a	chr1:212105774-212105783
2	CBX3	chr1:212105762-212106336	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212071600..212073818-chr1:212104650..212107451,2	K562	blood:

Variant related genes	Relation type
ENSG00000233626	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1017979	1.00[CEU][hapmap]
rs10863927	0.91[EUR][1000 genomes]
rs10863938	1.00[CEU][hapmap]
rs11119809	1.00[AMR][1000 genomes]
rs11119818	0.91[EUR][1000 genomes]
rs11119819	0.91[EUR][1000 genomes]
rs1418047	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1539196	0.86[EUR][1000 genomes]
rs2000168	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2050953	0.86[EUR][1000 genomes]
rs2105322	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788128	0.91[EUR][1000 genomes]
rs2788129	0.91[EUR][1000 genomes]
rs2788130	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788131	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788134	0.86[EUR][1000 genomes]
rs2788135	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788136	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788137	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788141	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788142	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788144	1.00[EUR][1000 genomes]
rs2788146	1.00[EUR][1000 genomes]
rs2808376	1.00[EUR][1000 genomes]
rs2808377	1.00[EUR][1000 genomes]
rs2808380	0.91[EUR][1000 genomes]
rs2808383	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808384	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2808387	0.91[EUR][1000 genomes]
rs2808390	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs28475044	0.91[EUR][1000 genomes]
rs28851183	0.91[EUR][1000 genomes]
rs2970573	0.91[EUR][1000 genomes]
rs2970574	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2970575	0.91[EUR][1000 genomes]
rs2970576	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970581	1.00[EUR][1000 genomes]
rs2970585	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970586	1.00[CEU][hapmap]
rs2970600	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970602	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2993524	1.00[CEU][hapmap]
rs2993525	1.00[CEU][hapmap]
rs2993527	1.00[CEU][hapmap]
rs2993530	0.86[EUR][1000 genomes]
rs2993532	0.86[EUR][1000 genomes]
rs2993536	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2993537	0.86[EUR][1000 genomes]
rs2993540	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2993542	0.91[EUR][1000 genomes]
rs2993546	1.00[CEU][hapmap]
rs2993549	1.00[CEU][hapmap]
rs3009986	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009990	0.86[EUR][1000 genomes]
rs3009992	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3009993	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3009994	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009995	0.86[EUR][1000 genomes]
rs3009996	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009998	0.86[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010000	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010001	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010005	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010008	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3010014	1.00[CEU][hapmap]
rs3010015	1.00[CEU][hapmap]
rs3010017	1.00[CEU][hapmap]
rs3010018	1.00[CEU][hapmap]
rs3010022	1.00[CEU][hapmap]
rs4245744	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4397712	1.00[CEU][hapmap]
rs4508084	0.91[EUR][1000 genomes]
rs4579825	0.91[EUR][1000 genomes]
rs4951424	0.86[EUR][1000 genomes]
rs4951427	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951429	0.91[EUR][1000 genomes]
rs4951430	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4951432	0.91[EUR][1000 genomes]
rs4951437	1.00[CEU][hapmap]
rs4951547	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951549	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951551	1.00[AMR][1000 genomes]
rs60146950	0.86[EUR][1000 genomes]
rs6540707	1.00[AMR][1000 genomes]
rs6540710	0.91[EUR][1000 genomes]
rs6656780	1.00[AMR][1000 genomes]
rs6656826	1.00[CEU][hapmap]
rs6658972	1.00[CEU][hapmap]
rs6664386	0.81[EUR][1000 genomes]
rs6669803	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6672030	1.00[CEU][hapmap]
rs6672393	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6685282	0.91[EUR][1000 genomes]
rs6689342	0.91[EUR][1000 genomes]
rs6693275	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6697341	0.91[EUR][1000 genomes]
rs6699292	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6699981	0.91[EUR][1000 genomes]
rs7413558	0.91[EUR][1000 genomes]
rs7517565	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7545377	0.91[EUR][1000 genomes]
rs7553567	0.84[EUR][1000 genomes]

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212084800-212113000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212098800-212106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:212100600-212109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:212101400-212107800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:212102000-212106200	Weak transcription	Right Atrium	heart
6	chr1:212102000-212109000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:212102400-212106200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:212102400-212107800	Weak transcription	Spleen	Spleen
9	chr1:212102400-212113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:212102600-212115200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:212102600-212120400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:212102800-212111400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:212102800-212114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:212102800-212115000	Weak transcription	Fetal Thymus	thymus
15	chr1:212102800-212115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:212103000-212106000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:212103000-212107800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:212103000-212132600	Weak transcription	Gastric	stomach
19	chr1:212103200-212106000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:212103200-212107800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:212103200-212108600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:212103200-212115000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:212103200-212115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:212103200-212115200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:212103200-212115200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:212103400-212106000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:212103400-212106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:212103400-212111600	Weak transcription	Liver	Liver
29	chr1:212103400-212113200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:212103400-212113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:212103600-212106000	Weak transcription	Pancreas	Pancrea
32	chr1:212103600-212106200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:212103600-212111800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:212103600-212111800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:212103600-212115000	Weak transcription	NHEK	skin
36	chr1:212103600-212115400	Weak transcription	HMEC	breast
37	chr1:212103600-212132200	Weak transcription	Esophagus	oesophagus
38	chr1:212103800-212132200	Weak transcription	NHLF	lung
39	chr1:212104000-212117600	Weak transcription	HepG2	liver
40	chr1:212104200-212115000	Weak transcription	Lung	lung
41	chr1:212104400-212106000	Weak transcription	Right Ventricle	heart
42	chr1:212104400-212108000	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:212104600-212107800	Enhancers	GM12878-XiMat	blood
44	chr1:212104800-212107400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:212104800-212109600	Weak transcription	Fetal Intestine Small	intestine
46	chr1:212104800-212114800	Weak transcription	Hela-S3	cervix
47	chr1:212104800-212124400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:212105400-212106200	Enhancers	Primary B cells from cord blood	blood
49	chr1:212105400-212107000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr1:212105400-212109000	Enhancers	Fetal Heart	heart

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