Variant report

Variant	rs208677
Chromosome Location	chr11:34448609-34448610
allele	A/C
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	EP300	chr11:34448493-34449188	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:34448290-34448703	SK-N-SH	brain:	n/a	n/a
3	MAX	chr11:34448246-34448696	SK-N-SH	brain:	n/a	n/a
4	MYC	chr11:34448570-34449258	MCF10A-Er-Src	breast:	n/a	n/a
5	ARID3A	chr11:34448484-34449153	HepG2	liver:	n/a	n/a
6	TCF12	chr11:34448029-34449444	SK-N-SH	brain:	n/a	n/a
7	EP300	chr11:34448495-34449379	K562	blood:	n/a	n/a
8	MAX	chr11:34448549-34449373	A549	lung:	n/a	n/a
9	TEAD4	chr11:34448260-34448865	SK-N-SH	brain:	n/a	n/a
10	CEBPB	chr11:34448560-34449176	HepG2	liver:	n/a	chr11:34448790-34448801
11	GATA2	chr11:34448213-34448748	SH-SY5Y	brain:	n/a	n/a
12	TEAD4	chr11:34448450-34449514	K562	blood:	n/a	n/a
13	RAD21	chr11:34448211-34448686	SK-N-SH_RA	brain:	n/a	chr11:34448362-34448374
14	MAX	chr11:34448332-34449262	SK-N-SH	brain:	n/a	n/a
15	FOXA1	chr11:34448567-34449133	HepG2	liver:	n/a	n/a
16	GATA2	chr11:34448474-34448747	K562	blood:	n/a	n/a
17	POLR2A	chr11:34448274-34448810	SK-N-SH	brain:	n/a	n/a
18	FOSL2	chr11:34448274-34449355	SK-N-SH	brain:	n/a	n/a
19	GATA1	chr11:34448425-34449530	PBDE	blood:	n/a	chr11:34449316-34449323
20	RAD21	chr11:34448232-34448767	SK-N-SH_RA	brain:	n/a	chr11:34448362-34448374
21	CEBPB	chr11:34448605-34449305	A549	lung:	n/a	chr11:34448790-34448801
22	CEBPB	chr11:34448549-34449271	Hela-S3	cervix:	n/a	chr11:34448790-34448801
23	GATA3	chr11:34448009-34449452	SK-N-SH	brain:	n/a	chr11:34449316-34449323
24	REST	chr11:34448574-34449333	A549	lung:	n/a	chr11:34449198-34449211 chr11:34449205-34449213
25	EP300	chr11:34448392-34449452	A549	lung:	n/a	n/a
26	BCL3	chr11:34448522-34449311	A549	lung:	n/a	n/a
27	FOXA1	chr11:34448580-34449139	HepG2	liver:	n/a	n/a
28	MAFK	chr11:34448585-34449440	Hela-S3	cervix:	n/a	chr11:34449068-34449077
29	NFIC	chr11:34448121-34449260	SK-N-SH	brain:	n/a	n/a
30	EP300	chr11:34448481-34449433	A549	lung:	n/a	n/a
31	MAFK	chr11:34448531-34449320	HepG2	liver:	n/a	chr11:34449068-34449077
32	FOXP2	chr11:34448267-34448783	SK-N-MC	brain:	n/a	n/a
33	SP1	chr11:34448504-34449498	A549	lung:	n/a	chr11:34448992-34449006
34	NFIC	chr11:34448269-34448769	SK-N-SH	brain:	n/a	n/a
35	HDAC2	chr11:34448469-34449164	HepG2	liver:	n/a	chr11:34448739-34448753
36	NR2F2	chr11:34448486-34449290	HepG2	liver:	n/a	n/a
37	SP1	chr11:34448537-34449120	HepG2	liver:	n/a	chr11:34448992-34449006
38	SP1	chr11:34448475-34449509	A549	lung:	n/a	chr11:34448992-34449006
39	TCF12	chr11:34448225-34449497	A549	lung:	n/a	n/a
40	GATA3	chr11:34448418-34449508	A549	lung:	n/a	chr11:34449316-34449323
41	NFIC	chr11:34448501-34449122	HepG2	liver:	n/a	n/a
42	CBX3	chr11:34448429-34449270	K562	blood:	n/a	n/a
43	MYBL2	chr11:34448531-34449163	HepG2	liver:	n/a	n/a
44	EP300	chr11:34448274-34449323	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr11:34448336-34448693	PFSK-1	brain:	n/a	n/a
46	MAFK	chr11:34448581-34449313	HepG2	liver:	n/a	chr11:34449068-34449077
47	RXRA	chr11:34448606-34449114	HepG2	liver:	n/a	chr11:34449047-34449069
48	CEBPB	chr11:34448562-34449292	A549	lung:	n/a	chr11:34448790-34448801
49	GATA3	chr11:34448226-34448718	SH-SY5Y	brain:	n/a	n/a
50	MBD4	chr11:34448578-34449126	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34444429..34446350-chr11:34447705..34449536,2	K562	blood:
2	chr11:34443552..34446459-chr11:34446644..34449623,2	MCF-7	breast:
3	chr11:34447883..34451792-chr11:34456049..34462661,10	K562	blood:

Variant related genes	Relation type
CIR1P3	TF binding region
ENSG00000121691	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1014749	0.81[ASN][1000 genomes]
rs1033509	0.91[ASN][1000 genomes]
rs10742316	0.91[ASN][1000 genomes]
rs12421999	0.81[ASN][1000 genomes]
rs16925614	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2076556	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs208675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208680	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208681	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208682	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208683	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2300182	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2746169	0.91[ASN][1000 genomes]
rs4755374	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4756146	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs489554	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5026711	0.91[ASN][1000 genomes]
rs554518	0.90[EUR][1000 genomes]
rs55665450	0.85[ASN][1000 genomes]
rs564250	0.98[ASN][1000 genomes]
rs7102889	0.94[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7106485	0.80[ASN][1000 genomes]
rs7109778	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72923163	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72924903	0.83[ASN][1000 genomes]
rs7395059	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7928060	0.82[ASN][1000 genomes]
rs7928866	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs208677	CAT	cis	Whole Blood	GTEx
rs208677	CAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34443400-34450000	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:34443800-34460000	Weak transcription	Esophagus	oesophagus
3	chr11:34445000-34449400	Enhancers	HMEC	breast
4	chr11:34446600-34455000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:34447000-34448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:34447000-34449000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:34447000-34449400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:34447200-34449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:34447400-34448800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:34447400-34449400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:34447400-34449400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:34447400-34449600	Enhancers	HSMMtube	muscle
13	chr11:34447400-34449600	Enhancers	NHEK	skin
14	chr11:34447400-34449800	Enhancers	NHLF	lung
15	chr11:34447400-34451200	Enhancers	Adipose Nuclei	Adipose
16	chr11:34447600-34448800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:34447600-34448800	Enhancers	K562	blood
18	chr11:34447600-34449200	Enhancers	NH-A	brain
19	chr11:34447600-34450200	Enhancers	HepG2	liver
20	chr11:34447800-34450000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:34447800-34450000	Enhancers	Liver	Liver
22	chr11:34447800-34450600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:34448000-34449400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:34448200-34449000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:34448200-34449000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr11:34448200-34449200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:34448200-34449200	Enhancers	Fetal Lung	lung
28	chr11:34448200-34449200	Enhancers	Placenta	Placenta
29	chr11:34448400-34449000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:34448400-34449000	Flanking Active TSS	A549	lung
31	chr11:34448400-34451200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:34448600-34448800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:34448600-34448800	Enhancers	HSMM	muscle
34	chr11:34448600-34448800	Enhancers	Osteobl	bone
35	chr11:34448600-34449000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:34448600-34449000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr11:34448600-34449000	Flanking Active TSS	Hela-S3	cervix
38	chr11:34448600-34451800	Weak transcription	Primary B cells from cord blood	blood

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