Variant report

Variant	rs11889509
Chromosome Location	chr2:114652129-114652130
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	MYC	chr2:114651810-114652323	MCF10A-Er-Src	breast:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
2	POLR2A	chr2:114651895-114652334	MCF10A-Er-Src	breast:	n/a	n/a
3	TBP	chr2:114651992-114652406	HepG2	liver:	n/a	n/a
4	STAT3	chr2:114651820-114652312	MCF10A-Er-Src	breast:	n/a	chr2:114652161-114652169 chr2:114652061-114652070 chr2:114652060-114652069
5	FOSL1	chr2:114651768-114652388	HCT-116	colon:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
6	JUND	chr2:114651879-114652309	Hela-S3	cervix:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
7	HNF4G	chr2:114651958-114652379	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:114652065-114652193	Hela-S3	cervix:	n/a	n/a
9	FOSL2	chr2:114651865-114652401	SK-N-SH	brain:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
10	USF2	chr2:114652049-114652299	Hela-S3	cervix:	n/a	n/a
11	BACH1	chr2:114652003-114652503	K562	blood:	n/a	chr2:114652058-114652072
12	FOXA1	chr2:114651822-114652471	HepG2	liver:	n/a	n/a
13	MYBL2	chr2:114651683-114652546	HepG2	liver:	n/a	n/a
14	MYC	chr2:114651444-114652338	K562	blood:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
15	KAP1	chr2:114651765-114652441	U2OS	brain:	n/a	chr2:114652059-114652068
16	MAX	chr2:114651898-114652393	NB4	blood:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
17	CEBPB	chr2:114651884-114652388	HepG2	liver:	n/a	n/a
18	FOXA1	chr2:114651894-114652346	HepG2	liver:	n/a	n/a
19	MYC	chr2:114651942-114652423	K562	blood:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
20	JUND	chr2:114651922-114652289	HepG2	liver:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
21	MAFK	chr2:114651933-114652236	IMR90	lung:	n/a	chr2:114652059-114652069 chr2:114652059-114652068
22	MAX	chr2:114651941-114652207	K562	blood:	n/a	chr2:114652061-114652070 chr2:114652060-114652069
23	STAT3	chr2:114652042-114652548	MCF10A-Er-Src	breast:	n/a	chr2:114652161-114652169 chr2:114652061-114652070 chr2:114652060-114652069
24	FOSL2	chr2:114651857-114652229	A549	lung:	n/a	chr2:114652061-114652069 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
25	POLR2A	chr2:114651863-114652378	U87	brain:	n/a	n/a
26	RAD21	chr2:114652056-114652382	HepG2	liver:	n/a	chr2:114652294-114652303
27	RFX5	chr2:114651967-114652370	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr2:114651917-114652431	A549	lung:	n/a	n/a
29	MAFK	chr2:114651934-114652226	K562	blood:	n/a	chr2:114652059-114652069 chr2:114652059-114652068
30	E2F4	chr2:114652002-114652224	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr2:114651895-114652333	Hela-S3	cervix:	n/a	chr2:114652060-114652069
32	STAT3	chr2:114651927-114652311	MCF10A-Er-Src	breast:	n/a	chr2:114652161-114652169 chr2:114652061-114652070 chr2:114652060-114652069
33	POLR2A	chr2:114651942-114652487	MCF10A-Er-Src	breast:	n/a	n/a
34	CEBPB	chr2:114651907-114652491	Hela-S3	cervix:	n/a	n/a
35	MAFF	chr2:114651911-114652248	K562	blood:	n/a	n/a
36	SP1	chr2:114651772-114652412	A549	lung:	n/a	n/a
37	EP300	chr2:114651807-114652489	HepG2	liver:	n/a	chr2:114652060-114652069
38	JUND	chr2:114651878-114652452	K562	blood:	n/a	chr2:114652061-114652069 chr2:114652059-114652070 chr2:114652060-114652069 chr2:114652062-114652069 chr2:114652059-114652071
39	HDAC2	chr2:114651763-114652412	HepG2	liver:	n/a	n/a
40	STAT3	chr2:114651924-114652295	Hela-S3	cervix:	n/a	chr2:114652161-114652169 chr2:114652060-114652069 chr2:114652061-114652070
41	RXRA	chr2:114651786-114652356	HepG2	liver:	n/a	chr2:114652060-114652069
42	STAT3	chr2:114651998-114652351	MCF10A-Er-Src	breast:	n/a	chr2:114652161-114652169 chr2:114652061-114652070 chr2:114652060-114652069
43	POLR2A	chr2:114651336-114652545	GM12878	blood:	n/a	n/a
44	GTF2F1	chr2:114652067-114652391	Hela-S3	cervix:	n/a	n/a
45	FOXA1	chr2:114652006-114652322	HepG2	liver:	n/a	n/a
46	TCF7L2	chr2:114651832-114652256	Hela-S3	cervix:	n/a	chr2:114652060-114652069
47	SMC3	chr2:114652052-114652583	HepG2	liver:	n/a	n/a
48	MXI1	chr2:114651962-114652394	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:114651935-114652349	K562	blood:	n/a	n/a
50	ZKSCAN1	chr2:114652014-114652260	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
2	chr2:114651373..114654113-chr2:114668115..114670436,3	K562	blood:
3	chr2:114512332..114515034-chr2:114651411..114654635,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270019	TF binding region
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10176845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10187400	1.00[EUR][1000 genomes]
rs10496457	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11889598	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891411	0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891462	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11894827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11895599	1.00[EUR][1000 genomes]
rs12105197	1.00[EUR][1000 genomes]
rs13384052	1.00[EUR][1000 genomes]
rs17045715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045864	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17046832	1.00[EUR][1000 genomes]
rs17048352	1.00[EUR][1000 genomes]
rs55641866	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55871409	1.00[EUR][1000 genomes]
rs55898668	1.00[EUR][1000 genomes]
rs55926723	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55952342	1.00[EUR][1000 genomes]
rs55959179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55969528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57250836	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57443397	1.00[EUR][1000 genomes]
rs58242493	1.00[EUR][1000 genomes]
rs58556274	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59403353	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59858371	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60313988	1.00[EUR][1000 genomes]
rs60798508	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60896642	1.00[EUR][1000 genomes]
rs60967736	1.00[EUR][1000 genomes]
rs61113571	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61179082	1.00[EUR][1000 genomes]
rs61516254	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61704468	1.00[EUR][1000 genomes]
rs6743688	1.00[EUR][1000 genomes]
rs72948697	1.00[EUR][1000 genomes]
rs72954522	1.00[EUR][1000 genomes]
rs72954542	1.00[EUR][1000 genomes]
rs72954545	1.00[EUR][1000 genomes]
rs72954552	1.00[EUR][1000 genomes]
rs72954575	1.00[EUR][1000 genomes]
rs73955093	1.00[EUR][1000 genomes]
rs73955096	1.00[EUR][1000 genomes]
rs73955101	1.00[EUR][1000 genomes]
rs73955102	1.00[EUR][1000 genomes]
rs73955460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73955469	1.00[EUR][1000 genomes]
rs73957403	1.00[EUR][1000 genomes]
rs73957404	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957406	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957408	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73957425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957426	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957431	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957433	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9678655	1.00[MEX][hapmap]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114648600-114657800	Weak transcription	Gastric	stomach
2	chr2:114648600-114667600	Weak transcription	Lung	lung
3	chr2:114648800-114653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:114649200-114653200	Enhancers	Brain Anterior Caudate	brain
5	chr2:114649200-114653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:114649200-114661200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
8	chr2:114649400-114652200	Enhancers	Brain Angular Gyrus	brain
9	chr2:114649400-114654000	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr2:114649400-114655200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:114649600-114661000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:114649800-114652400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
13	chr2:114649800-114653800	Weak transcription	Fetal Stomach	stomach
14	chr2:114649800-114655600	Enhancers	Small Intestine	intestine
15	chr2:114650000-114652400	Enhancers	Colon Smooth Muscle	Colon
16	chr2:114650000-114653000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:114650000-114653000	Weak transcription	Right Atrium	heart
18	chr2:114650000-114654400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:114650000-114655600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:114650200-114652200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:114650200-114652200	Enhancers	Fetal Brain Male	brain
22	chr2:114650200-114652400	Enhancers	Brain Germinal Matrix	brain
23	chr2:114650200-114653400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:114650200-114653400	Strong transcription	Fetal Thymus	thymus
25	chr2:114650200-114653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:114650200-114654200	Genic enhancers	HSMM	muscle
27	chr2:114650200-114654600	Genic enhancers	Dnd41	blood
28	chr2:114650200-114658400	Enhancers	Adipose Nuclei	Adipose
29	chr2:114650200-114658400	Enhancers	Stomach Mucosa	stomach
30	chr2:114650200-114661000	Weak transcription	Right Ventricle	heart
31	chr2:114650400-114654400	Weak transcription	Fetal Lung	lung
32	chr2:114650400-114655400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:114650600-114652200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:114650600-114653000	Enhancers	Hela-S3	cervix
35	chr2:114650600-114654200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:114650800-114653000	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:114650800-114653800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:114651000-114653000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:114651000-114653600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
40	chr2:114651000-114653600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:114651200-114652400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr2:114651200-114652400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr2:114651200-114652600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
44	chr2:114651200-114654200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr2:114651200-114655800	Enhancers	Brain Hippocampus Middle	brain
46	chr2:114651400-114652200	Enhancers	Brain Substantia Nigra	brain
47	chr2:114651400-114652200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr2:114651400-114652200	Flanking Active TSS	NHEK	skin
49	chr2:114651400-114652400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr2:114651400-114652400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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