Variant report

Variant	rs4851144
Chromosome Location	chr2:99220707-99220708
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	POLR2A	chr2:99220566-99220763	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99220491..99222361-chr2:99223823..99225591,2	MCF-7	breast:
2	chr2:99060800..99062868-chr2:99218071..99220777,2	MCF-7	breast:
3	chr2:99219237..99221017-chr2:99222834..99226199,5	K562	blood:

Variant related genes	Relation type
UNC50	TF binding region
ENSG00000040933	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs10199199	0.82[EUR][1000 genomes]
rs10496327	0.87[EUR][1000 genomes]
rs10514774	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1139829	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11537554	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11884553	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11888595	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11892744	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11896729	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11901568	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11902825	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12052639	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12617721	0.88[EUR][1000 genomes]
rs12618524	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12619665	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12622341	0.87[EUR][1000 genomes]
rs13402379	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1516085	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587835	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031139	0.83[EUR][1000 genomes]
rs17031146	0.83[EUR][1000 genomes]
rs17031905	0.87[EUR][1000 genomes]
rs17032120	0.88[EUR][1000 genomes]
rs17032866	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032870	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17033136	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17033813	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17034171	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17034241	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444095	0.87[EUR][1000 genomes]
rs17446058	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17502889	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17504774	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17505088	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17505326	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17506535	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513468	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1847550	0.84[EUR][1000 genomes]
rs2230388	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276603	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278206	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278207	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278208	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2278211	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278212	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2278213	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2278214	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2309390	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3203856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906456	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3729568	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754871	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754872	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754875	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754877	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754878	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754879	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754880	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3754881	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754883	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754884	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754885	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754886	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754888	0.88[EUR][1000 genomes]
rs3754889	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754890	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754891	0.88[EUR][1000 genomes]
rs3754893	0.85[EUR][1000 genomes]
rs3769698	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769701	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769708	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769709	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769712	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769713	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769715	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769716	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769717	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769719	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769723	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769724	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769725	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769726	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769727	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769728	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769729	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769730	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769733	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769734	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769735	0.91[EUR][1000 genomes]
rs3769736	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769737	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769738	0.88[EUR][1000 genomes]
rs3769740	0.87[EUR][1000 genomes]
rs3769741	0.87[EUR][1000 genomes]
rs3769743	0.87[EUR][1000 genomes]
rs3820941	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820943	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820945	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4596026	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4599165	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4850874	0.87[EUR][1000 genomes]
rs4850875	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4850876	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850877	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850878	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850879	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4851131	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4851136	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4851140	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851141	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851142	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851145	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851146	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55900716	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55934321	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56091613	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56118505	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56141907	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56197140	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56232707	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56240302	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56333112	0.82[EUR][1000 genomes]
rs56357378	0.83[EUR][1000 genomes]
rs58778964	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61180742	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6728891	0.83[EUR][1000 genomes]
rs6736755	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6753380	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6753515	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72819965	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819970	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819971	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819972	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819981	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819996	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72820002	0.87[EUR][1000 genomes]
rs72821904	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821907	0.89[EUR][1000 genomes]
rs72821908	0.88[EUR][1000 genomes]
rs72821920	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72821924	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821930	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821939	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72821943	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821946	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821951	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72821955	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72821956	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72821965	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823788	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823792	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823794	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823796	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72823801	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562232	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7585747	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7585939	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7588254	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs961242	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
3	chr2:99194200-99220800	Weak transcription	Fetal Heart	heart
4	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:99201800-99223000	Weak transcription	Stomach Mucosa	stomach
6	chr2:99203000-99222800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:99210800-99223200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:99211000-99221200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:99212200-99220800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:99212200-99222800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:99212600-99220800	Strong transcription	Placenta	Placenta
12	chr2:99212600-99221400	Strong transcription	Liver	Liver
13	chr2:99212600-99223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:99213000-99220800	Strong transcription	HSMM	muscle
15	chr2:99213000-99222400	Strong transcription	Primary B cells from cord blood	blood
16	chr2:99213000-99222600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:99213000-99223000	Strong transcription	Fetal Thymus	thymus
18	chr2:99213200-99221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:99213200-99221400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:99213200-99223600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:99213800-99221000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:99214000-99221400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:99214200-99223000	Weak transcription	Fetal Brain Male	brain
24	chr2:99214400-99222600	Weak transcription	Brain Angular Gyrus	brain
25	chr2:99214800-99222600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:99216800-99222400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:99216800-99223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:99217000-99221200	Weak transcription	HMEC	breast
29	chr2:99217000-99221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:99217000-99223400	Weak transcription	A549	lung
31	chr2:99217000-99223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:99217200-99221000	Weak transcription	HSMMtube	muscle
33	chr2:99217200-99221800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:99217200-99223600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:99217200-99223600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:99217400-99223000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:99217400-99223000	Weak transcription	Osteobl	bone
38	chr2:99217400-99223600	Weak transcription	NH-A	brain
39	chr2:99217600-99222400	Weak transcription	Small Intestine	intestine
40	chr2:99217600-99222600	Weak transcription	Brain Germinal Matrix	brain
41	chr2:99218400-99221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:99218400-99221200	Weak transcription	Fetal Lung	lung
43	chr2:99218400-99221600	Weak transcription	NHEK	skin
44	chr2:99218400-99222400	Weak transcription	Aorta	Aorta
45	chr2:99218400-99222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:99218400-99222600	Weak transcription	Gastric	stomach
47	chr2:99218400-99222600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:99218400-99222600	Weak transcription	Spleen	Spleen
49	chr2:99218400-99222800	Weak transcription	Esophagus	oesophagus
50	chr2:99218400-99222800	Weak transcription	Pancreas	Pancrea

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