Variant report

Variant	rs73823859
Chromosome Location	chr4:69962101-69962102
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	TEAD4	chr4:69961690-69962471	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:69961654-69962398	A549	lung:	n/a	chr4:69961952-69961965 chr4:69961952-69961963 chr4:69961949-69961966 chr4:69961952-69961965
3	RAD21	chr4:69961778-69962369	HepG2	liver:	n/a	n/a
4	HDAC2	chr4:69961894-69962352	HepG2	liver:	n/a	n/a
5	HNF4A	chr4:69961906-69962309	HepG2	liver:	n/a	chr4:69962121-69962133
6	JUND	chr4:69961812-69962298	HepG2	liver:	n/a	n/a
7	HEY1	chr4:69962083-69962457	HepG2	liver:	n/a	n/a
8	NFIC	chr4:69960825-69962606	HepG2	liver:	n/a	n/a
9	HDAC2	chr4:69961829-69962451	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:69961787-69962551	HepG2	liver:	n/a	chr4:69961952-69961965 chr4:69961952-69961963 chr4:69961949-69961966 chr4:69961952-69961965
11	EP300	chr4:69961774-69962504	HepG2	liver:	n/a	chr4:69962195-69962209 chr4:69961953-69961967
12	FOXA2	chr4:69960708-69962644	HepG2	liver:	n/a	chr4:69962097-69962109
13	FOS	chr4:69960975-69962225	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF12	chr4:69961807-69962335	A549	lung:	n/a	n/a
15	TCF12	chr4:69960624-69962518	A549	lung:	n/a	n/a
16	FOXA1	chr4:69961770-69962496	HepG2	liver:	n/a	chr4:69962097-69962109
17	STAT3	chr4:69961858-69962131	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr4:69961757-69962503	HepG2	liver:	n/a	chr4:69962195-69962209 chr4:69961953-69961967
19	SP1	chr4:69961563-69962466	A549	lung:	n/a	n/a
20	FOXA2	chr4:69960922-69962366	A549	lung:	n/a	chr4:69962097-69962109
21	POLR2A	chr4:69962019-69962415	HepG2	liver:	n/a	n/a
22	BCL3	chr4:69961801-69962281	A549	lung:	n/a	n/a
23	POLR2A	chr4:69961999-69963013	HepG2	liver:	n/a	n/a
24	TBP	chr4:69961997-69962387	HepG2	liver:	n/a	n/a
25	ARID3A	chr4:69960997-69962638	HepG2	liver:	n/a	n/a
26	MYC	chr4:69961887-69962248	MCF10A-Er-Src	breast:	n/a	n/a
27	NFIC	chr4:69961809-69962393	HepG2	liver:	n/a	n/a
28	FOXA2	chr4:69961824-69962385	A549	lung:	n/a	chr4:69962097-69962109
29	FOSL2	chr4:69960798-69962386	A549	lung:	n/a	n/a
30	RXRA	chr4:69961996-69962401	HepG2	liver:	n/a	n/a
31	REST	chr4:69962053-69962391	HepG2	liver:	n/a	n/a
32	NR3C1	chr4:69961856-69962260	A549	lung:	n/a	n/a
33	FOXA1	chr4:69961804-69962452	HepG2	liver:	n/a	chr4:69962097-69962109
34	HNF4A	chr4:69961909-69962304	HepG2	liver:	n/a	chr4:69962121-69962133
35	FOS	chr4:69960914-69962258	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr4:69962046-69962477	HepG2	liver:	n/a	n/a
37	JUN	chr4:69961833-69962328	HepG2	liver:	n/a	n/a
38	MBD4	chr4:69961782-69962497	HepG2	liver:	n/a	n/a
39	CEBPB	chr4:69961802-69962387	A549	lung:	n/a	chr4:69961952-69961965 chr4:69961952-69961963 chr4:69961949-69961966 chr4:69961952-69961965
40	FOXA1	chr4:69961852-69962417	HepG2	liver:	n/a	chr4:69962097-69962109
41	STAT3	chr4:69961744-69962246	MCF10A-Er-Src	breast:	n/a	n/a
42	EP300	chr4:69961883-69962295	HepG2	liver:	n/a	chr4:69962195-69962209 chr4:69961953-69961967
43	FOSL2	chr4:69961953-69962562	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:69961857-69962219	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr4:69961903-69962258	MCF10A-Er-Src	breast:	n/a	n/a
46	CEBPB	chr4:69961749-69962164	A549	lung:	n/a	chr4:69961952-69961965 chr4:69961952-69961963 chr4:69961949-69961966 chr4:69961952-69961965
47	HEY1	chr4:69961946-69963161	HepG2	liver:	n/a	n/a
48	JUND	chr4:69961810-69962417	A549	lung:	n/a	n/a
49	MAX	chr4:69961970-69962159	HepG2	liver:	n/a	n/a
50	FOXA2	chr4:69961811-69962379	HepG2	liver:	n/a	chr4:69962097-69962109

Variant related genes	Relation type
UGT2B7	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10008743	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10009634	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10014355	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10030409	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10050146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10213292	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28375844	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28410179	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28454605	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28458345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28462361	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28472596	0.88[EUR][1000 genomes]
rs28535667	0.88[EUR][1000 genomes]
rs28539948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578474	0.85[EUR][1000 genomes]
rs28637446	0.88[EUR][1000 genomes]
rs28675300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28678018	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28678791	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28684869	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28685210	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28754965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28821804	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28890225	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34661811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4299663	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4412057	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56028004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57913007	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59592861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60930838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72855405	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823805	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73823851	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73823857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73826062	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9985807	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9993579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9995928	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9999964	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv594583	chr4:69928642-69988378	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv427683	chr4:69929701-70414172	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv522091	chr4:69932587-69988378	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv999858	chr4:69933262-70676525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv1000261	chr4:69954600-70642254	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv537134	chr4:69954600-70642254	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv879380	chr4:69961912-70046930	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv964059	chr4:69962051-69983787	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69959600-69980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69960200-69962600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:69960400-69962200	Enhancers	Fetal Intestine Large	intestine
4	chr4:69960400-69962400	Enhancers	NHEK	skin
5	chr4:69960800-69962200	Enhancers	Fetal Intestine Small	intestine
6	chr4:69960800-69962400	Enhancers	HUVEC	blood vessel
7	chr4:69960800-69962600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:69960800-69962600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:69961000-69962200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:69961000-69962200	Enhancers	Hela-S3	cervix
11	chr4:69961000-69962600	Enhancers	HMEC	breast
12	chr4:69961200-69962200	Weak transcription	Pancreas	Pancrea
13	chr4:69961600-69962200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:69961600-69962400	Flanking Active TSS	A549	lung
15	chr4:69961600-69962800	Enhancers	Stomach Mucosa	stomach
16	chr4:69961800-69962200	Enhancers	Liver	Liver
17	chr4:69961800-69962200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:69961800-69962400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:69962000-69962400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:69962000-69962600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:69962000-69962800	Flanking Active TSS	HepG2	liver

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