Variant report

Variant	rs2110987
Chromosome Location	chr2:36790013-36790014
allele	A/G
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	RFX5	chr2:36789401-36790608	Hela-S3	cervix:	n/a	chr2:36790404-36790421
2	POLR2A	chr2:36789391-36792317	HUVEC	blood vessel:	n/a	n/a
3	STAT3	chr2:36789935-36790389	MCF10A-Er-Src	breast:	n/a	chr2:36790234-36790245
4	MYC	chr2:36789587-36790463	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr2:36789872-36790715	A549	lung:	n/a	n/a
6	SP1	chr2:36789917-36790521	A549	lung:	n/a	n/a
7	TBP	chr2:36790007-36790395	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr2:36790006-36790464	MCF10A-Er-Src	breast:	n/a	chr2:36790234-36790245
9	TEAD4	chr2:36789917-36790472	HepG2	liver:	n/a	chr2:36790157-36790166
10	POLR2A	chr2:36789949-36793343	HUVEC	blood vessel:	n/a	n/a
11	STAT3	chr2:36789973-36790486	Hela-S3	cervix:	n/a	chr2:36790234-36790245
12	CEBPB	chr2:36789975-36790446	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:36789495-36790372	MCF10A-Er-Src	breast:	n/a	n/a
14	PRDM1	chr2:36789747-36790567	Hela-S3	cervix:	n/a	chr2:36790454-36790467
15	CEBPB	chr2:36789971-36790747	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:36790008-36790385	ECC-1	luminal epithelium:	n/a	n/a
17	GATA3	chr2:36788326-36790151	SK-N-SH	brain:	n/a	chr2:36788874-36788884 chr2:36790043-36790056
18	POLR2A	chr2:36789950-36791426	HUVEC	blood vessel:	n/a	n/a
19	GATA3	chr2:36788349-36790622	SK-N-SH	brain:	n/a	chr2:36788874-36788884 chr2:36790043-36790056
20	FOSL2	chr2:36789924-36790736	A549	lung:	n/a	chr2:36790507-36790517 chr2:36790634-36790643
21	CEBPB	chr2:36790004-36790491	IMR90	lung:	n/a	n/a
22	STAT3	chr2:36790006-36790499	MCF10A-Er-Src	breast:	n/a	chr2:36790234-36790245
23	CEBPB	chr2:36790003-36790408	HepG2	liver:	n/a	n/a
24	EP300	chr2:36789901-36790728	A549	lung:	n/a	n/a
25	EP300	chr2:36789984-36790538	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr2:36789964-36790486	A549	lung:	n/a	n/a
27	POLR2A	chr2:36789988-36790061	HUVEC	blood vessel:	n/a	n/a
28	CEBPB	chr2:36789974-36790498	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36788852..36791258-chr2:36824096..36825627,2	K562	blood:
2	chr2:36789668..36791996-chr2:37007136..37008825,2	K562	blood:
3	chr2:36781920..36784587-chr2:36788838..36790616,3	K562	blood:
4	chr2:36762904..36765006-chr2:36789182..36790793,2	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10175266	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10178965	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10180760	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10181664	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10189344	0.87[EUR][1000 genomes]
rs10189554	0.91[EUR][1000 genomes]
rs10194100	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10197570	0.86[EUR][1000 genomes]
rs10210291	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1045543	0.83[EUR][1000 genomes]
rs10469897	0.88[EUR][1000 genomes]
rs10469898	0.88[EUR][1000 genomes]
rs11124519	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11686443	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11691600	0.90[EUR][1000 genomes]
rs11693359	0.94[EUR][1000 genomes]
rs12105545	0.90[EUR][1000 genomes]
rs12712508	0.82[EUR][1000 genomes]
rs13029475	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13385408	0.88[EUR][1000 genomes]
rs13398345	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13406169	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13406184	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410783	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs14291	0.83[EUR][1000 genomes]
rs1523786	0.92[EUR][1000 genomes]
rs1533946	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1533947	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1533948	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1533949	0.96[EUR][1000 genomes]
rs17019087	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17488036	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2022211	0.92[EUR][1000 genomes]
rs2072533	0.91[EUR][1000 genomes]
rs2072534	0.90[EUR][1000 genomes]
rs2072535	0.89[EUR][1000 genomes]
rs2075226	0.91[EUR][1000 genomes]
rs2110986	0.92[EUR][1000 genomes]
rs2160403	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160404	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34392255	0.89[EUR][1000 genomes]
rs34425257	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3755196	0.85[EUR][1000 genomes]
rs3770788	0.89[EUR][1000 genomes]
rs3770797	0.93[EUR][1000 genomes]
rs3770799	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770809	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3770811	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55700228	0.89[EUR][1000 genomes]
rs57670037	0.82[EUR][1000 genomes]
rs6728602	0.90[EUR][1000 genomes]
rs848610	0.85[EUR][1000 genomes]
rs848611	0.85[EUR][1000 genomes]
rs848612	0.83[EUR][1000 genomes]
rs848613	0.84[EUR][1000 genomes]
rs848614	0.82[EUR][1000 genomes]
rs848616	0.84[EUR][1000 genomes]
rs848619	0.84[EUR][1000 genomes]
rs848624	0.86[EUR][1000 genomes]
rs848627	0.81[EUR][1000 genomes]
rs848629	0.86[EUR][1000 genomes]
rs848630	0.86[EUR][1000 genomes]
rs848631	0.87[EUR][1000 genomes]
rs848635	0.88[EUR][1000 genomes]
rs848636	0.88[EUR][1000 genomes]
rs848638	0.89[EUR][1000 genomes]
rs848639	0.89[EUR][1000 genomes]
rs848640	0.85[EUR][1000 genomes]
rs981355	0.80[EUR][1000 genomes]
rs9917316	0.91[EUR][1000 genomes]
rs9917318	0.92[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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2110987	FEZ2	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
2	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:36764000-36790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:36764800-36791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:36766000-36791800	Weak transcription	Esophagus	oesophagus
6	chr2:36769800-36790400	Weak transcription	Spleen	Spleen
7	chr2:36771400-36802800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:36776600-36792600	Weak transcription	Right Ventricle	heart
10	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
12	chr2:36777400-36790600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:36777400-36795000	Weak transcription	Fetal Heart	heart
14	chr2:36778600-36790400	Weak transcription	Psoas Muscle	Psoas
15	chr2:36779200-36791600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
18	chr2:36780800-36790400	Weak transcription	Pancreas	Pancrea
19	chr2:36781400-36791800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:36782000-36790200	Weak transcription	Thymus	Thymus
21	chr2:36782000-36792400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:36782000-36805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:36782200-36790400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:36782600-36790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:36782600-36798400	Weak transcription	Gastric	stomach
26	chr2:36782800-36790400	Weak transcription	Fetal Stomach	stomach
27	chr2:36782800-36791800	Weak transcription	Colonic Mucosa	Colon
28	chr2:36782800-36799600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:36783000-36800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:36783200-36805000	Weak transcription	K562	blood
31	chr2:36783400-36805000	Weak transcription	GM12878-XiMat	blood
32	chr2:36783600-36790400	Weak transcription	Lung	lung
33	chr2:36783600-36792600	Weak transcription	Dnd41	blood
34	chr2:36783800-36794200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:36784800-36799200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:36785200-36800600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:36786400-36792200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:36786400-36794200	Strong transcription	Primary T cells from cord blood	blood
39	chr2:36786400-36794800	Strong transcription	Primary B cells from cord blood	blood
40	chr2:36786600-36790800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:36786600-36792000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr2:36786600-36793200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:36787000-36791000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:36787200-36790200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:36787200-36791000	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:36787200-36797600	Weak transcription	Fetal Lung	lung
47	chr2:36787400-36791600	Enhancers	Placenta	Placenta
48	chr2:36787600-36790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:36787800-36790200	Enhancers	HMEC	breast
50	chr2:36787800-36791200	Enhancers	HSMMtube	muscle

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