Variant report

Variant	rs2863154
Chromosome Location	chr11:45168124-45168125
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	CEBPB	chr11:45168084-45169567	Hela-S3	cervix:	n/a	n/a
2	TAF1	chr11:45167994-45168552	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:45167733-45169367	HepG2	liver:	n/a	n/a
4	YY1	chr11:45167616-45168266	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:45167589-45168522	HUVEC	blood vessel:	n/a	n/a
6	CHD2	chr11:45167681-45169502	Hela-S3	cervix:	n/a	chr11:45168843-45168853
7	YY1	chr11:45168123-45169079	NT2-D1	testis:	n/a	chr11:45168877-45168891 chr11:45168876-45168885 chr11:45168876-45168887 chr11:45168460-45168472
8	YY1	chr11:45167913-45169132	HepG2	liver:	n/a	chr11:45168877-45168891 chr11:45168876-45168885 chr11:45168876-45168887 chr11:45168460-45168472
9	POLR2A	chr11:45166638-45170215	Hela-S3	cervix:	n/a	n/a
10	TAF1	chr11:45168043-45168290	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:45167788-45169302	K562	blood:	n/a	n/a
12	SIN3AK20	chr11:45168072-45168317	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:45167998-45169184	GM18951	blood:	n/a	n/a
14	POLR2A	chr11:45167976-45169642	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr11:45166659-45169405	HepG2	liver:	n/a	n/a
16	ZBTB7A	chr11:45167966-45168189	K562	blood:	n/a	n/a
17	BRCA1	chr11:45167471-45168136	Hela-S3	cervix:	n/a	n/a
18	MAX	chr11:45168067-45168525	K562	blood:	n/a	n/a
19	YY1	chr11:45167969-45168963	SK-N-SH	brain:	n/a	chr11:45168877-45168891 chr11:45168876-45168885 chr11:45168876-45168887 chr11:45168460-45168472
20	GTF2F1	chr11:45167724-45168321	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:45168016-45169081	A549	lung:	n/a	n/a
22	YY1	chr11:45167955-45169023	K562	blood:	n/a	chr11:45168877-45168891 chr11:45168876-45168885 chr11:45168876-45168887 chr11:45168460-45168472
23	ELF1	chr11:45167929-45168287	GM12878	blood:	n/a	chr11:45168121-45168133
24	POLR2A	chr11:45168050-45168309	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:45168005-45169567	H1-neurons	neurons:	n/a	n/a
26	SMC3	chr11:45167815-45168202	Hela-S3	cervix:	n/a	n/a
27	FOSL2	chr11:45168123-45169111	SK-N-SH	brain:	n/a	chr11:45168429-45168437 chr11:45168427-45168439 chr11:45168785-45168794 chr11:45168428-45168438
28	TAF1	chr11:45167927-45168273	SK-N-SH	brain:	n/a	n/a
29	CTCF	chr11:45168120-45168270	AG04449	skin:	n/a	n/a
30	HEY1	chr11:45167674-45168413	HepG2	liver:	n/a	chr11:45167764-45167779
31	YY1	chr11:45167955-45168528	GM12892	blood:	n/a	chr11:45168460-45168472
32	TAF1	chr11:45167678-45168331	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr11:45166766-45169443	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr11:45168005-45168188	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:45168029-45168527	A549	lung:	n/a	n/a
36	MAZ	chr11:45167680-45169243	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:45168039-45168515	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr11:45168027-45168326	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:45167979-45169175	GM15510	blood:	n/a	n/a
40	RUNX3	chr11:45168068-45168366	GM12878	blood:	n/a	n/a
41	TAF1	chr11:45167592-45168344	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:45168019-45169213	MCF-7	breast:	n/a	n/a
43	POLR2A	chr11:45167724-45169268	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr11:45167687-45169098	HUVEC	blood vessel:	n/a	n/a
45	JUND	chr11:45168108-45168605	SK-N-SH	brain:	n/a	chr11:45168429-45168437 chr11:45168114-45168122 chr11:45168427-45168439 chr11:45168427-45168438 chr11:45168428-45168438
46	ZNF143	chr11:45168079-45169366	Hela-S3	cervix:	n/a	chr11:45168916-45168926
47	MAX	chr11:45167705-45169463	Hela-S3	cervix:	n/a	n/a
48	E2F6	chr11:45168110-45169310	K562	blood:	n/a	chr11:45168922-45168932
49	TAF7	chr11:45167973-45168317	H1-hESC	embryonic stem cell:	n/a	n/a
50	TBP	chr11:45167137-45169216	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:44971020..44974752-chr11:45167266..45169322,3	MCF-7	breast:
2	chr11:44940135..44943122-chr11:45165602..45168415,2	MCF-7	breast:
3	chr11:45167998..45168767-chr5:56205154..56205766,2	Hela-S3	cervix:
4	chr10:70747303..70749893-chr11:45167896..45169684,2	MCF-7	breast:
5	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
6	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
7	chr11:45167440..45169930-chr11:45202656..45204248,2	K562	blood:
8	chr1:228352747..228353404-chr11:45167742..45168503,2	Hela-S3	cervix:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000203684	Chromatin interaction
ENSG00000157570	Chromatin interaction
ENSG00000175274	Chromatin interaction
ENSG00000019485	Chromatin interaction
ENSG00000155542	Chromatin interaction
ENSG00000198954	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10838421	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10838422	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2863155	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2902425	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4755954	1.00[JPT][hapmap]
rs58195346	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6485591	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6485593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7131444	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs737451	1.00[JPT][hapmap]
rs7478881	0.92[EUR][1000 genomes]
rs7482212	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7929420	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs963698	0.96[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv541025	chr11:45154352-45193352	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3402611	chr11:45166876-45169824	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv825854	chr11:45167393-45169063	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3341652	chr11:45167401-45170149	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv825855	chr11:45167783-45168824	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45166800-45168200	Enhancers	Spleen	Spleen
2	chr11:45166800-45169600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:45167200-45168200	Flanking Bivalent TSS/Enh	Dnd41	blood
4	chr11:45167200-45169200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:45167200-45169200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:45167200-45169200	Active TSS	Fetal Kidney	kidney
7	chr11:45167200-45169600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:45167200-45169800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:45167200-45170000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:45167400-45168200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:45167400-45169600	Active TSS	Psoas Muscle	Psoas
12	chr11:45167400-45169600	Active TSS	Right Atrium	heart
13	chr11:45167400-45169800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:45167400-45169800	Active TSS	HSMM	muscle
15	chr11:45167400-45170000	Active TSS	A549	lung
16	chr11:45167600-45168200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:45167600-45168200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:45167600-45169000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:45167600-45169000	Active TSS	Fetal Lung	lung
20	chr11:45167600-45169000	Active TSS	Placenta Amnion	Placenta Amnion
21	chr11:45167600-45169000	Active TSS	K562	blood
22	chr11:45167600-45169200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:45167600-45169200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:45167600-45169200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:45167600-45169200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:45167600-45169200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:45167600-45169400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:45167600-45169400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:45167600-45169400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:45167600-45169400	Active TSS	Esophagus	oesophagus
31	chr11:45167600-45169400	Active TSS	Left Ventricle	heart
32	chr11:45167600-45169400	Active TSS	Right Ventricle	heart
33	chr11:45167600-45169400	Active TSS	NHLF	lung
34	chr11:45167600-45169600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:45167600-45169600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:45167600-45169600	Active TSS	Aorta	Aorta
37	chr11:45167600-45169600	Active TSS	Fetal Intestine Large	intestine
38	chr11:45167600-45169600	Active TSS	Ovary	ovary
39	chr11:45167600-45169800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:45167600-45169800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:45167800-45168200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:45167800-45168200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr11:45167800-45168200	Bivalent/Poised TSS	Thymus	Thymus
44	chr11:45167800-45169000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:45167800-45169000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:45167800-45169000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr11:45167800-45169000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:45167800-45169000	Active TSS	Colonic Mucosa	Colon
49	chr11:45167800-45169000	Weak transcription	Fetal Heart	heart
50	chr11:45167800-45169000	Active TSS	Fetal Muscle Trunk	muscle

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