Variant report

Variant	rs2808380
Chromosome Location	chr1:212107579-212107580
allele	C/T
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	EBF1	chr1:212107365-212109306	GM12878	blood:	n/a	chr1:212108338-212108351 chr1:212108340-212108349 chr1:212108340-212108350 chr1:212108340-212108349
2	POLR2A	chr1:212107578-212108390	SK-N-MC	brain:	n/a	n/a
3	CEBPB	chr1:212107477-212107604	Hela-S3	cervix:	n/a	chr1:212107572-212107583
4	BCL3	chr1:212107544-212108386	A549	lung:	n/a	n/a
5	CEBPB	chr1:212107397-212107734	K562	blood:	n/a	chr1:212107572-212107583
6	POLR2A	chr1:212106625-212109232	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr1:212107420-212107705	K562	blood:	n/a	chr1:212107572-212107583
8	CEBPB	chr1:212107422-212107703	HepG2	liver:	n/a	chr1:212107572-212107583
9	MTA3	chr1:212107316-212109437	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212106730..212108475-chr1:212198666..212200544,2	K562	blood:
2	chr1:212105969..212108114-chr1:212115797..212117969,2	K562	blood:

Variant related genes	Relation type
ENSG00000233626	TF binding region
ENSG00000212187	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1017979	0.91[YRI][hapmap]
rs10863927	0.82[EUR][1000 genomes]
rs10863938	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs11119818	0.82[EUR][1000 genomes]
rs11119819	0.82[EUR][1000 genomes]
rs1586660	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs2000168	0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs2105322	0.82[EUR][1000 genomes]
rs2788128	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2788129	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2788130	1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2788131	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs2788134	0.94[EUR][1000 genomes]
rs2788135	1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2788136	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs2788137	1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2788141	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2788142	0.91[EUR][1000 genomes]
rs2788144	0.91[EUR][1000 genomes]
rs2788146	0.91[EUR][1000 genomes]
rs2808376	0.91[EUR][1000 genomes]
rs2808377	0.91[EUR][1000 genomes]
rs2808382	0.81[GIH][hapmap]
rs2808383	0.91[EUR][1000 genomes]
rs2808384	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2808387	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2808388	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs2808390	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs28475044	0.82[EUR][1000 genomes]
rs28851183	0.82[EUR][1000 genomes]
rs2970573	1.00[EUR][1000 genomes]
rs2970574	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2970575	1.00[EUR][1000 genomes]
rs2970576	0.91[EUR][1000 genomes]
rs2970581	0.91[EUR][1000 genomes]
rs2970585	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2970586	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs2970588	0.83[AFR][1000 genomes]
rs2970590	0.90[AFR][1000 genomes]
rs2970591	0.83[AFR][1000 genomes]
rs2970600	0.91[YRI][hapmap];0.94[EUR][1000 genomes]
rs2970602	0.94[EUR][1000 genomes]
rs2993524	0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2993526	0.83[AFR][1000 genomes]
rs2993527	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2993530	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2993532	0.94[EUR][1000 genomes]
rs2993535	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs2993536	0.81[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2993537	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2993540	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2993542	1.00[EUR][1000 genomes]
rs2993543	0.91[EUR][1000 genomes]
rs2993546	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs2993549	0.86[AFR][1000 genomes]
rs3009983	0.80[AFR][1000 genomes]
rs3009986	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs3009990	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3009992	0.94[EUR][1000 genomes]
rs3009993	0.94[EUR][1000 genomes]
rs3009994	1.00[GIH][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3009995	0.94[EUR][1000 genomes]
rs3009996	0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3009998	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3009999	0.91[YRI][hapmap];0.94[EUR][1000 genomes]
rs3010000	0.94[EUR][1000 genomes]
rs3010001	0.91[YRI][hapmap];0.94[EUR][1000 genomes]
rs3010005	0.91[YRI][hapmap];0.94[EUR][1000 genomes]
rs3010008	1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3010014	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs3010015	1.00[YRI][hapmap]
rs3010017	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs3010018	0.91[YRI][hapmap]
rs3010019	0.83[AFR][1000 genomes]
rs3010022	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs3010029	1.00[TSI][hapmap]
rs4245744	0.90[TSI][hapmap]
rs4397712	0.91[YRI][hapmap]
rs4508084	0.82[EUR][1000 genomes]
rs4579825	0.82[EUR][1000 genomes]
rs4951429	0.82[EUR][1000 genomes]
rs4951430	0.82[EUR][1000 genomes]
rs4951432	0.82[EUR][1000 genomes]
rs4951437	0.91[YRI][hapmap]
rs4951559	0.81[ASN][1000 genomes]
rs6540710	0.82[EUR][1000 genomes]
rs6656826	0.91[YRI][hapmap]
rs6658972	1.00[YRI][hapmap]
rs6672030	0.91[YRI][hapmap]
rs6685282	0.82[EUR][1000 genomes]
rs6689342	0.82[EUR][1000 genomes]
rs6697341	0.82[EUR][1000 genomes]
rs6699981	0.82[EUR][1000 genomes]
rs7413558	0.82[EUR][1000 genomes]
rs7517565	0.82[EUR][1000 genomes]
rs7545292	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs7545377	0.82[EUR][1000 genomes]

No data

Chromatin state (count:65 , 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	chr1:212100600-212109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212101400-212107800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:212102000-212109000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:212102400-212107800	Weak transcription	Spleen	Spleen
6	chr1:212102400-212113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:212102600-212115200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:212102600-212120400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:212102800-212111400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:212102800-212114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:212102800-212115000	Weak transcription	Fetal Thymus	thymus
12	chr1:212102800-212115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:212103000-212107800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:212103000-212132600	Weak transcription	Gastric	stomach
15	chr1:212103200-212107800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:212103200-212108600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:212103200-212115000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:212103200-212115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:212103200-212115200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:212103200-212115200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:212103400-212111600	Weak transcription	Liver	Liver
22	chr1:212103400-212113200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:212103400-212113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:212103600-212111800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:212103600-212111800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:212103600-212115000	Weak transcription	NHEK	skin
27	chr1:212103600-212115400	Weak transcription	HMEC	breast
28	chr1:212103600-212132200	Weak transcription	Esophagus	oesophagus
29	chr1:212103800-212132200	Weak transcription	NHLF	lung
30	chr1:212104000-212117600	Weak transcription	HepG2	liver
31	chr1:212104200-212115000	Weak transcription	Lung	lung
32	chr1:212104400-212108000	Enhancers	Fetal Muscle Trunk	muscle
33	chr1:212104600-212107800	Enhancers	GM12878-XiMat	blood
34	chr1:212104800-212109600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:212104800-212114800	Weak transcription	Hela-S3	cervix
36	chr1:212104800-212124400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:212105400-212109000	Enhancers	Fetal Heart	heart
38	chr1:212105400-212109200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:212105400-212109200	Enhancers	Fetal Muscle Leg	muscle
40	chr1:212106200-212111800	Weak transcription	Primary B cells from cord blood	blood
41	chr1:212106200-212148600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:212106400-212107800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:212106400-212108800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:212106400-212111800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:212106400-212111800	Weak transcription	Left Ventricle	heart
46	chr1:212106400-212115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:212106400-212132400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:212106400-212132600	Weak transcription	Right Ventricle	heart
49	chr1:212106400-212147800	Weak transcription	NH-A	brain
50	chr1:212106600-212108600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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