Variant report

Variant	rs3853419
Chromosome Location	chr14:81866458-81866459
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	MYC	chr14:81866430-81868176	MCF10A-Er-Src	breast:	n/a	n/a
2	TEAD4	chr14:81866393-81867056	K562	blood:	n/a	n/a
3	FOS	chr14:81866424-81868252	MCF10A-Er-Src	breast:	n/a	chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81866861-81866873 chr14:81867063-81867072 chr14:81868007-81868015 chr14:81868006-81868016
4	POLR2A	chr14:81866363-81867661	U87	brain:	n/a	n/a
5	STAT3	chr14:81866447-81868185	MCF10A-Er-Src	breast:	n/a	chr14:81866948-81866960 chr14:81866448-81866468
6	NFIC	chr14:81866385-81868116	ECC-1	luminal epithelium:	n/a	chr14:81866727-81866744 chr14:81866728-81866744 chr14:81866547-81866563 chr14:81866546-81866563
7	JUN	chr14:81866401-81867804	K562	blood:	n/a	chr14:81866861-81866873 chr14:81867063-81867072
8	KAP1	chr14:81866077-81866597	K562	blood:	n/a	n/a
9	NFIC	chr14:81866042-81868218	ECC-1	luminal epithelium:	n/a	chr14:81866727-81866744 chr14:81866728-81866744 chr14:81866547-81866563 chr14:81866546-81866563
10	MAX	chr14:81866444-81866993	K562	blood:	n/a	n/a
11	POLR2A	chr14:81866433-81867663	U87	brain:	n/a	n/a
12	ZNF384	chr14:81866293-81867570	K562	blood:	n/a	n/a
13	CEBPB	chr14:81866442-81868268	HCT-116	colon:	n/a	n/a
14	TCF7L2	chr14:81866439-81867635	Hela-S3	cervix:	n/a	n/a
15	UBTF	chr14:81866268-81866921	K562	blood:	n/a	n/a
16	EP300	chr14:81866313-81868384	ECC-1	luminal epithelium:	n/a	chr14:81866823-81866837 chr14:81866824-81866838 chr14:81866826-81866840 chr14:81866825-81866839 chr14:81866827-81866841
17	TBL1XR1	chr14:81866442-81867349	K562	blood:	n/a	n/a
18	SMC3	chr14:81866456-81868307	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr14:81866414-81868133	ECC-1	luminal epithelium:	n/a	n/a
20	FOS	chr14:81866312-81868219	MCF10A-Er-Src	breast:	n/a	chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81866861-81866873 chr14:81867063-81867072 chr14:81868007-81868015 chr14:81868006-81868016
21	KAP1	chr14:81866249-81869132	HEK293	kidney:	n/a	chr14:81868005-81868014
22	GATA1	chr14:81866050-81866962	K562	blood:	n/a	chr14:81866742-81866749
23	POLR2A	chr14:81866455-81866835	K562	blood:	n/a	n/a
24	ZMIZ1	chr14:81866439-81867347	K562	blood:	n/a	n/a
25	MAX	chr14:81866431-81866978	HCT-116	colon:	n/a	n/a
26	POLR2A	chr14:81866435-81867663	U87	brain:	n/a	n/a
27	CREB1	chr14:81866422-81867127	K562	blood:	n/a	n/a
28	STAT3	chr14:81866400-81868183	MCF10A-Er-Src	breast:	n/a	chr14:81866948-81866960 chr14:81866448-81866468
29	MAX	chr14:81866434-81868123	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr14:81866363-81867055	U87	brain:	n/a	n/a
31	TEAD4	chr14:81866421-81868266	ECC-1	luminal epithelium:	n/a	n/a
32	GTF2F1	chr14:81866129-81868085	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81866040..81868691-chr14:81870203..81872674,2	K562	blood:
2	chr14:81864941..81867433-chr14:81921571..81923631,2	K562	blood:
3	chr14:81865587..81872038-chr14:81887440..81896764,13	K562	blood:
4	chr14:81865287..81867829-chr14:81917916..81919892,2	K562	blood:
5	chr14:81865470..81868504-chr14:81891136..81896392,5	K562	blood:
6	chr14:81852266..81853780-chr14:81865825..81868508,2	K562	blood:
7	chr14:81865299..81866947-chr14:81897451..81900314,2	K562	blood:
8	chr14:81685490..81687621-chr14:81866238..81868620,4	MCF-7	breast:

Variant related genes	Relation type
STON2	TF binding region
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1003258	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10135926	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146094	0.82[AMR][1000 genomes]
rs10147416	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588572	0.89[ASN][1000 genomes]
rs1569012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17111790	0.89[ASN][1000 genomes]
rs2145123	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2371596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2371599	0.80[ASN][1000 genomes]
rs28476767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3844533	0.87[ASN][1000 genomes]
rs3844534	0.87[ASN][1000 genomes]
rs3853420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853421	0.88[ASN][1000 genomes]
rs3915222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4110459	0.87[ASN][1000 genomes]
rs4110460	0.89[ASN][1000 genomes]
rs4110462	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4275784	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4290414	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4903982	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574649	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574653	0.80[ASN][1000 genomes]
rs6574654	0.80[ASN][1000 genomes]
rs7153104	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153556	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7156951	0.80[ASN][1000 genomes]
rs7160907	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72703752	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72703760	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018198	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8020806	0.89[ASN][1000 genomes]
rs8022070	0.87[ASN][1000 genomes]
rs9652383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81853200-81866600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:81858200-81867000	Weak transcription	Brain Germinal Matrix	brain
5	chr14:81859400-81866800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:81860200-81867400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:81861000-81873000	Weak transcription	HepG2	liver
8	chr14:81861400-81869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
10	chr14:81861600-81873200	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:81861800-81866600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:81862800-81867000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:81862800-81867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:81862800-81881400	Weak transcription	Fetal Intestine Small	intestine
15	chr14:81864400-81867000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:81864400-81867200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:81864600-81867000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:81864600-81870000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:81864800-81866600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:81864800-81866800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:81864800-81867400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:81864800-81869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:81865000-81866800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:81865000-81867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:81865000-81869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:81865000-81889400	Weak transcription	Ovary	ovary
30	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:81865200-81870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:81865400-81867200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:81865400-81873000	Weak transcription	Liver	Liver
34	chr14:81865800-81869200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:81866000-81866600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr14:81866000-81866600	Genic enhancers	K562	blood
37	chr14:81866000-81866600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr14:81866000-81867600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:81866000-81868800	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:81866200-81866600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:81866200-81866600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:81866200-81866600	Flanking Active TSS	Psoas Muscle	Psoas
43	chr14:81866200-81866800	Flanking Active TSS	HMEC	breast
44	chr14:81866200-81866800	Flanking Active TSS	NHEK	skin
45	chr14:81866200-81867000	Enhancers	HSMMtube	muscle
46	chr14:81866200-81867200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:81866200-81867200	Flanking Active TSS	HSMM	muscle
48	chr14:81866200-81867400	Enhancers	Esophagus	oesophagus
49	chr14:81866200-81867400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr14:81866200-81867600	Enhancers	Sigmoid Colon	Sigmoid Colon

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