Variant report

Variant	rs2576967
Chromosome Location	chr12:104278147-104278148
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	SMC3	chr12:104278126-104278319	HepG2	liver:	n/a	n/a
2	CTCF	chr12:104278140-104278290	BJ	skin:	n/a	chr12:104278195-104278211
3	CTCF	chr12:104278120-104278270	AG04450	lung:	n/a	chr12:104278195-104278211
4	RAD21	chr12:104278135-104278277	K562	blood:	n/a	n/a
5	RAD21	chr12:104277613-104278976	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr12:104278140-104278290	HCFaa	heart:	n/a	chr12:104278195-104278211
7	CTCF	chr12:104278140-104278290	HMF	breast:	n/a	chr12:104278195-104278211
8	CTCF	chr12:104278120-104278270	AoAF	blood vessel:	n/a	chr12:104278195-104278211
9	CTCF	chr12:104278140-104278290	GM12873	blood:	n/a	chr12:104278195-104278211
10	CTCF	chr12:104278024-104278267	A549	lung:	n/a	chr12:104278195-104278211
11	CTCF	chr12:104278124-104278285	Kidney_OC	kidney:	n/a	chr12:104278195-104278211
12	CTCF	chr12:104278120-104278270	HPAF	blood vessel:	n/a	chr12:104278195-104278211
13	CTCF	chr12:104278100-104278250	RPTEC	kidney:	n/a	chr12:104278195-104278211
14	SPI1	chr12:104277900-104278752	GM12878	blood:	n/a	chr12:104278241-104278254 chr12:104278244-104278253
15	CTCF	chr12:104278140-104278290	GM12864	blood:	n/a	chr12:104278195-104278211
16	CTCF	chr12:104278060-104278210	BE2_C	brain:	n/a	n/a
17	CTCF	chr12:104278140-104278290	GM12866	blood:	n/a	chr12:104278195-104278211
18	CTCF	chr12:104278140-104278290	Hela-S3	cervix:	n/a	chr12:104278195-104278211
19	CTCF	chr12:104278126-104278267	SK-N-SH_RA	brain:	n/a	chr12:104278195-104278211
20	CTCF	chr12:104278120-104278270	AG09309	skin:	n/a	chr12:104278195-104278211
21	RAD21	chr12:104277921-104278462	A549	lung:	n/a	n/a
22	SPI1	chr12:104278127-104278369	GM12878	blood:	n/a	chr12:104278241-104278254 chr12:104278244-104278253
23	SMC3	chr12:104278094-104278363	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr12:104278040-104278190	HCM	heart:	n/a	n/a
25	CTCF	chr12:104277847-104278936	A549	lung:	n/a	chr12:104278381-104278394 chr12:104278195-104278211
26	CTCF	chr12:104278122-104278294	GM10248	blood:	n/a	chr12:104278195-104278211
27	SPI1	chr12:104278142-104278485	HL-60	blood:	n/a	chr12:104278241-104278254 chr12:104278244-104278253
28	CTCF	chr12:104278120-104278270	HRPEpiC	eye:	n/a	chr12:104278195-104278211
29	CTCF	chr12:104278017-104278412	IMR90	lung:	n/a	chr12:104278381-104278394 chr12:104278195-104278211
30	CTCF	chr12:104278120-104278270	HCPEpiC	choroid plexus:	n/a	chr12:104278195-104278211
31	CTCF	chr12:104278103-104278337	MCF-7	breast:	n/a	chr12:104278195-104278211
32	FOXA1	chr12:104278099-104278351	T-47D	breast:	n/a	n/a
33	SPI1	chr12:104278131-104278344	K562	blood:	n/a	chr12:104278241-104278254 chr12:104278244-104278253
34	RCOR1	chr12:104278052-104278280	GM12878	blood:	n/a	n/a
35	RFX5	chr12:104278117-104278317	GM12878	blood:	n/a	n/a
36	MAZ	chr12:104278027-104278328	GM12878	blood:	n/a	n/a
37	CTCF	chr12:104278080-104278230	HCT-116	colon:	n/a	chr12:104278195-104278211
38	CTCF	chr12:104278110-104278300	Pancreas_OC	pancreas:	n/a	chr12:104278195-104278211
39	CTCF	chr12:104278080-104278230	GM12869	blood:	n/a	chr12:104278195-104278211
40	SPI1	chr12:104277965-104278520	HL-60	blood:	n/a	chr12:104278241-104278254 chr12:104278244-104278253
41	SMC3	chr12:104278080-104278336	K562	blood:	n/a	n/a
42	CTCF	chr12:104278140-104278290	HRE	kidney:	n/a	chr12:104278195-104278211
43	CTCF	chr12:104278120-104278270	GM12865	blood:	n/a	chr12:104278195-104278211
44	CTCF	chr12:104278120-104278270	HVMF	connective:	n/a	chr12:104278195-104278211
45	CTCF	chr12:104278080-104278230	HVMF	connective:	n/a	chr12:104278195-104278211
46	CTCF	chr12:104278035-104278359	H1-hESC	embryonic stem cell:	n/a	chr12:104278195-104278211
47	CTCF	chr12:104278140-104278290	HEK293	kidney:	n/a	chr12:104278195-104278211
48	CTCF	chr12:104278100-104278250	SAEC	small airway:	n/a	chr12:104278195-104278211
49	CTCF	chr12:104278120-104278270	K562	blood:	n/a	chr12:104278195-104278211
50	TBP	chr12:104278030-104278282	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104233142..104235484-chr12:104276450..104278828,3	K562	blood:
2	chr12:104276117..104279238-chr12:104322705..104326968,4	K562	blood:
3	chr12:103968788..103969666-chr12:104278125..104278702,2	MCF-7	breast:
4	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
5	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
6	chr12:104276555..104279337-chr12:104325468..104328815,4	K562	blood:
7	chr12:104233142..104235198-chr12:104276474..104278828,2	K562	blood:
8	chr12:104277459..104278614-chr12:104502651..104503606,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10745982	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10745983	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10745986	0.99[ASN][1000 genomes]
rs10745987	0.99[ASN][1000 genomes]
rs10745988	0.99[ASN][1000 genomes]
rs10745989	0.89[ASN][1000 genomes]
rs10745990	0.93[ASN][1000 genomes]
rs10778291	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10778293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10778294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10778295	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10778297	0.99[ASN][1000 genomes]
rs10778298	0.99[ASN][1000 genomes]
rs10778299	0.99[ASN][1000 genomes]
rs10778300	0.95[ASN][1000 genomes]
rs10778301	0.95[ASN][1000 genomes]
rs10778302	0.97[ASN][1000 genomes]
rs10778303	0.99[ASN][1000 genomes]
rs10778304	0.99[ASN][1000 genomes]
rs10861126	0.95[ASN][1000 genomes]
rs10861128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861129	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10861134	0.99[ASN][1000 genomes]
rs10861135	0.99[ASN][1000 genomes]
rs10861136	0.87[ASN][1000 genomes]
rs10861137	0.99[ASN][1000 genomes]
rs10861138	0.81[ASN][1000 genomes]
rs10861139	0.99[ASN][1000 genomes]
rs10861140	0.99[ASN][1000 genomes]
rs11111816	0.83[EUR][1000 genomes]
rs11111817	0.83[EUR][1000 genomes]
rs11111822	0.93[ASN][1000 genomes]
rs11111823	0.99[ASN][1000 genomes]
rs11111824	0.99[ASN][1000 genomes]
rs11111827	0.95[ASN][1000 genomes]
rs11111828	0.84[ASN][1000 genomes]
rs11613427	0.99[ASN][1000 genomes]
rs1165596	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1165597	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1165598	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1185985	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12312978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1583599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1595338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1595339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2033730	0.98[ASN][1000 genomes]
rs2196614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2248382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2251979	0.83[EUR][1000 genomes]
rs2252000	0.83[EUR][1000 genomes]
rs2252088	0.83[EUR][1000 genomes]
rs2263954	0.84[EUR][1000 genomes]
rs2374350	0.95[ASN][1000 genomes]
rs2374351	0.95[ASN][1000 genomes]
rs2374352	0.93[ASN][1000 genomes]
rs2374353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2438116	0.83[EUR][1000 genomes]
rs2438389	0.83[EUR][1000 genomes]
rs2439622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2576950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2576957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2576958	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2576960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2576961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2576962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2576963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2576964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2576965	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2583236	0.99[ASN][1000 genomes]
rs2583240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2583241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2583242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2583243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2583248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2583249	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2583250	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2888809	0.95[ASN][1000 genomes]
rs2888810	0.95[ASN][1000 genomes]
rs34978042	0.86[ASN][1000 genomes]
rs3850016	0.99[ASN][1000 genomes]
rs3850017	0.99[ASN][1000 genomes]
rs3850018	0.99[ASN][1000 genomes]
rs3850019	0.99[ASN][1000 genomes]
rs3850020	0.95[ASN][1000 genomes]
rs4316574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4488278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4491322	0.99[ASN][1000 genomes]
rs4511355	0.99[ASN][1000 genomes]
rs4556622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964118	0.99[ASN][1000 genomes]
rs4964308	0.99[ASN][1000 genomes]
rs4964322	0.99[ASN][1000 genomes]
rs4964323	0.99[ASN][1000 genomes]
rs4964326	0.97[ASN][1000 genomes]
rs4964327	0.99[ASN][1000 genomes]
rs4964328	0.99[ASN][1000 genomes]
rs4964329	0.99[ASN][1000 genomes]
rs4964330	0.99[ASN][1000 genomes]
rs56205268	0.81[ASN][1000 genomes]
rs6539109	0.91[ASN][1000 genomes]
rs6539110	0.99[ASN][1000 genomes]
rs7136272	0.95[ASN][1000 genomes]
rs7136297	0.95[ASN][1000 genomes]
rs7138145	0.99[ASN][1000 genomes]
rs7138345	0.99[ASN][1000 genomes]
rs7138361	0.99[ASN][1000 genomes]
rs728165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728166	0.83[ASN][1000 genomes]
rs7294443	0.95[ASN][1000 genomes]
rs7295172	0.95[ASN][1000 genomes]
rs7295268	0.95[ASN][1000 genomes]
rs7295285	0.95[ASN][1000 genomes]
rs7295499	0.94[ASN][1000 genomes]
rs7295782	0.83[ASN][1000 genomes]
rs7298496	0.99[ASN][1000 genomes]
rs7298653	0.99[ASN][1000 genomes]
rs7298655	0.95[ASN][1000 genomes]
rs7299349	0.99[ASN][1000 genomes]
rs7301439	0.95[ASN][1000 genomes]
rs7310988	0.95[ASN][1000 genomes]
rs7311473	0.95[ASN][1000 genomes]
rs7312936	0.93[ASN][1000 genomes]
rs7314790	0.95[ASN][1000 genomes]
rs73175882	0.81[ASN][1000 genomes]
rs7488952	0.93[ASN][1000 genomes]
rs7956005	0.99[ASN][1000 genomes]
rs7956297	0.99[ASN][1000 genomes]
rs7957862	0.99[ASN][1000 genomes]
rs7963412	0.99[ASN][1000 genomes]
rs7964542	0.95[ASN][1000 genomes]
rs7964654	0.95[ASN][1000 genomes]
rs7967501	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967668	0.86[AMR][1000 genomes]
rs7970923	0.97[ASN][1000 genomes]
rs7971070	0.93[ASN][1000 genomes]
rs7971105	0.99[ASN][1000 genomes]
rs7979423	0.93[ASN][1000 genomes]
rs7979748	0.80[ASN][1000 genomes]
rs7979749	0.85[ASN][1000 genomes]
rs878125	0.97[ASN][1000 genomes]
rs878126	0.98[ASN][1000 genomes]
rs9888379	0.95[ASN][1000 genomes]
rs9943750	0.86[ASN][1000 genomes]
rs9943761	0.99[ASN][1000 genomes]
rs9943762	0.99[ASN][1000 genomes]
rs9943812	0.99[ASN][1000 genomes]
rs9943844	0.99[ASN][1000 genomes]
rs9988931	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv977145	chr12:104273790-104283207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
2	chr12:104272200-104278200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:104275000-104281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:104275600-104278200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:104275600-104278200	Weak transcription	Fetal Thymus	thymus
6	chr12:104276800-104278800	Enhancers	GM12878-XiMat	blood
7	chr12:104277400-104278400	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:104277600-104278400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:104277800-104278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:104278000-104278400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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