Variant report

Variant	rs4676768
Chromosome Location	chr3:120069736-120069737
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	CEBPB	chr3:120069312-120069864	K562	blood:	n/a	n/a
2	MAFF	chr3:120069060-120069749	HepG2	liver:	n/a	chr3:120069390-120069408
3	MAFK	chr3:120068911-120069747	K562	blood:	n/a	chr3:120069150-120069161 chr3:120069397-120069406 chr3:120069393-120069413 chr3:120069392-120069407 chr3:120069397-120069407
4	FOS	chr3:120068687-120069799	MCF10A-Er-Src	breast:	n/a	chr3:120069324-120069336 chr3:120069397-120069409 chr3:120069399-120069408 chr3:120069399-120069407 chr3:120069398-120069408 chr3:120069400-120069407 chr3:120069398-120069407
5	MYC	chr3:120069289-120069802	MCF10A-Er-Src	breast:	n/a	chr3:120069398-120069407 chr3:120069399-120069408
6	POU2F2	chr3:120069548-120069894	GM12891	blood:	n/a	n/a
7	ZNF384	chr3:120069634-120069853	GM12878	blood:	n/a	n/a
8	CEBPB	chr3:120069258-120069899	Hela-S3	cervix:	n/a	n/a
9	NFIC	chr3:120069113-120069914	SK-N-SH	brain:	n/a	n/a
10	TCF7L2	chr3:120069372-120069917	Hela-S3	cervix:	n/a	chr3:120069399-120069408 chr3:120069398-120069407
11	NFIC	chr3:120069148-120069860	ECC-1	luminal epithelium:	n/a	n/a
12	MAFK	chr3:120069028-120069789	HepG2	liver:	n/a	chr3:120069150-120069161 chr3:120069397-120069406 chr3:120069393-120069413 chr3:120069392-120069407 chr3:120069397-120069407
13	GTF3C2	chr3:120069309-120070309	Hela-S3	cervix:	n/a	n/a
14	MAX	chr3:120066845-120069807	Hela-S3	cervix:	n/a	chr3:120069398-120069407 chr3:120069399-120069408 chr3:120068105-120068114 chr3:120068883-120068891
15	NFIC	chr3:120069329-120069923	ECC-1	luminal epithelium:	n/a	n/a
16	MAFK	chr3:120067677-120069746	GM12878	blood:	n/a	chr3:120069150-120069161 chr3:120069397-120069406 chr3:120069393-120069413 chr3:120069392-120069407 chr3:120069397-120069407
17	JUND	chr3:120067693-120069829	K562	blood:	n/a	chr3:120069324-120069336 chr3:120069397-120069409 chr3:120069399-120069408 chr3:120069399-120069407 chr3:120069398-120069408 chr3:120069400-120069407 chr3:120069398-120069407 chr3:120069397-120069408
18	TBL1XR1	chr3:120069666-120069818	K562	blood:	n/a	n/a
19	MAFK	chr3:120067474-120069866	Hela-S3	cervix:	n/a	chr3:120069150-120069161 chr3:120069397-120069406 chr3:120069393-120069413 chr3:120069392-120069407 chr3:120069397-120069407
20	RCOR1	chr3:120069659-120069859	K562	blood:	n/a	n/a
21	BRCA1	chr3:120068109-120069807	Hela-S3	cervix:	n/a	n/a
22	MAFK	chr3:120068219-120069769	HepG2	liver:	n/a	chr3:120069150-120069161 chr3:120069397-120069406 chr3:120069393-120069413 chr3:120069392-120069407 chr3:120069397-120069407
23	ZNF384	chr3:120069618-120069984	K562	blood:	n/a	n/a
24	TBP	chr3:120067077-120069867	Hela-S3	cervix:	n/a	n/a
25	KAP1	chr3:120067493-120069782	U2OS	brain:	n/a	chr3:120069400-120069409 chr3:120069397-120069406
26	HCFC1	chr3:120066986-120069952	Hela-S3	cervix:	n/a	n/a
27	MYC	chr3:120067638-120069778	K562	blood:	n/a	chr3:120069398-120069407 chr3:120069399-120069408 chr3:120068105-120068114 chr3:120068883-120068891

No.	Distal block	Cell Line	Cell type
1	chr3:119961553..119963645-chr3:120067756..120069896,2	MCF-7	breast:
2	chr3:120069111..120071997-chr3:120084566..120086906,2	K562	blood:
3	chr3:119811895..119815177-chr3:120067061..120069801,4	K562	blood:
4	chr3:119814026..119816300-chr3:120067212..120070079,2	MCF-7	breast:
5	chr3:119810967..119815661-chr3:120066752..120069801,5	K562	blood:

Variant related genes	Relation type
LRRC58	TF binding region
ENSG00000082701	Chromatin interaction
ENSG00000175697	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12173	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12192	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13061630	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13070508	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081675	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13083670	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096232	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096256	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096973	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13100865	0.90[AMR][1000 genomes]
rs17813772	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091726	0.90[AMR][1000 genomes]
rs2201166	1.00[ASN][1000 genomes]
rs33935225	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34134493	1.00[ASN][1000 genomes]
rs34805176	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35587339	1.00[ASN][1000 genomes]
rs36001904	0.85[AMR][1000 genomes]
rs36068602	0.90[AMR][1000 genomes]
rs3755558	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4676696	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4676698	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676765	1.00[ASN][1000 genomes]
rs4676776	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676777	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676781	0.90[AMR][1000 genomes]
rs4676782	0.84[AMR][1000 genomes]
rs6438575	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66815350	1.00[ASN][1000 genomes]
rs6767463	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770270	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6803846	1.00[ASN][1000 genomes]
rs71327229	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv236293	chr3:120066250-120069861	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
12	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv3968	chr3:120066454-120111463	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120067200-120069800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr3:120067400-120069800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr3:120068600-120069800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:120068600-120069800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr3:120069000-120069800	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:120069000-120069800	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:120069000-120069800	Flanking Active TSS	Hela-S3	cervix
8	chr3:120069000-120070000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:120069200-120069800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:120069200-120069800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:120069200-120069800	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:120069200-120070000	Enhancers	Brain Cingulate Gyrus	brain
13	chr3:120069400-120069800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:120069400-120069800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:120069400-120069800	Enhancers	Adipose Nuclei	Adipose
16	chr3:120069400-120069800	Enhancers	Brain Hippocampus Middle	brain
17	chr3:120069400-120069800	Enhancers	Fetal Muscle Leg	muscle
18	chr3:120069400-120069800	Enhancers	Ovary	ovary
19	chr3:120069400-120069800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:120069400-120069800	Enhancers	A549	lung
21	chr3:120069400-120069800	Flanking Active TSS	HSMM	muscle
22	chr3:120069400-120069800	Enhancers	K562	blood
23	chr3:120069400-120069800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:120069400-120069800	Enhancers	NH-A	brain
25	chr3:120069400-120070000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:120069400-120070000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:120069400-120070000	Enhancers	NHDF-Ad	bronchial
28	chr3:120069400-120070000	Enhancers	Osteobl	bone
29	chr3:120069400-120070200	Enhancers	Fetal Lung	lung
30	chr3:120069400-120070400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:120069400-120070400	Enhancers	Liver	Liver
32	chr3:120069400-120071800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:120069600-120069800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:120069600-120069800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:120069600-120069800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:120069600-120069800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:120069600-120069800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:120069600-120069800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:120069600-120069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:120069600-120069800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:120069600-120069800	Enhancers	Fetal Muscle Trunk	muscle
42	chr3:120069600-120069800	Enhancers	Placenta	Placenta
43	chr3:120069600-120069800	Enhancers	Left Ventricle	heart
44	chr3:120069600-120069800	Enhancers	Pancreas	Pancrea
45	chr3:120069600-120069800	Enhancers	Psoas Muscle	Psoas
46	chr3:120069600-120069800	Enhancers	Right Ventricle	heart
47	chr3:120069600-120069800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr3:120069600-120069800	Flanking Active TSS	HepG2	liver
49	chr3:120069600-120070000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:120069600-120070000	Enhancers	GM12878-XiMat	blood

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