Variant report

Variant	rs2371596
Chromosome Location	chr14:81867847-81867848
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	BATF	chr14:81867798-81868064	GM12878	blood:	n/a	chr14:81868048-81868056
3	EP300	chr14:81866524-81868244	Hela-S3	cervix:	n/a	chr14:81866823-81866837 chr14:81866824-81866838 chr14:81866826-81866840 chr14:81866825-81866839 chr14:81866827-81866841
4	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
5	STAT3	chr14:81866447-81868185	MCF10A-Er-Src	breast:	n/a	chr14:81866948-81866960 chr14:81866448-81866468
6	SMARCC1	chr14:81866950-81868705	Hela-S3	cervix:	n/a	chr14:81868006-81868015
7	NFIC	chr14:81866385-81868116	ECC-1	luminal epithelium:	n/a	chr14:81866727-81866744 chr14:81866728-81866744 chr14:81866547-81866563 chr14:81866546-81866563
8	FOS	chr14:81866492-81868200	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
9	FOXM1	chr14:81866893-81867863	ECC-1	luminal epithelium:	n/a	n/a
10	RUNX3	chr14:81867690-81868178	GM12878	blood:	n/a	n/a
11	BCL11A	chr14:81867776-81868155	GM12878	blood:	n/a	chr14:81868139-81868146
12	STAT3	chr14:81866592-81868231	Hela-S3	cervix:	n/a	chr14:81866948-81866960
13	TEAD4	chr14:81866536-81868116	ECC-1	luminal epithelium:	n/a	n/a
14	MAFK	chr14:81867712-81868000	HepG2	liver:	n/a	n/a
15	CEBPB	chr14:81867061-81868230	HCT-116	colon:	n/a	n/a
16	STAT3	chr14:81867220-81868157	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr14:81867796-81868114	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr14:81867198-81868060	MCF10A-Er-Src	breast:	n/a	chr14:81867642-81867659
19	NFIC	chr14:81866042-81868218	ECC-1	luminal epithelium:	n/a	chr14:81866727-81866744 chr14:81866728-81866744 chr14:81866547-81866563 chr14:81866546-81866563
20	TEAD4	chr14:81867161-81868867	K562	blood:	n/a	n/a
21	MAX	chr14:81866516-81868376	Hela-S3	cervix:	n/a	n/a
22	JUND	chr14:81866613-81868237	Hela-S3	cervix:	n/a	chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81866861-81866873 chr14:81867063-81867072 chr14:81868007-81868015 chr14:81868006-81868016
23	RAD21	chr14:81866564-81868169	Hela-S3	cervix:	n/a	n/a
24	STAT3	chr14:81866674-81868180	MCF10A-Er-Src	breast:	n/a	chr14:81866948-81866960
25	FOS	chr14:81866606-81868162	Hela-S3	cervix:	n/a	chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81866861-81866873 chr14:81867063-81867072 chr14:81868007-81868015 chr14:81868006-81868016
26	POLR2A	chr14:81867153-81867981	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr14:81867091-81868149	ECC-1	luminal epithelium:	n/a	n/a
28	RUNX3	chr14:81867645-81868202	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:81867717-81868658	U87	brain:	n/a	n/a
30	ZKSCAN1	chr14:81866519-81868056	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr14:81866442-81868268	HCT-116	colon:	n/a	n/a
32	MYC	chr14:81866596-81868163	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr14:81866483-81868812	K562	blood:	n/a	n/a
34	MEF2A	chr14:81867722-81868112	GM12878	blood:	n/a	n/a
35	MYC	chr14:81867139-81868182	MCF10A-Er-Src	breast:	n/a	n/a
36	CUX1	chr14:81867345-81868835	K562	blood:	n/a	chr14:81867741-81867757 chr14:81867896-81867907
37	BRCA1	chr14:81866499-81868180	Hela-S3	cervix:	n/a	n/a
38	ATF2	chr14:81867763-81868138	GM12878	blood:	n/a	n/a
39	TFAP2C	chr14:81866500-81867910	Hela-S3	cervix:	n/a	chr14:81867340-81867355
40	GATA1	chr14:81867740-81868977	PBDE	blood:	n/a	chr14:81868509-81868518 chr14:81868534-81868543 chr14:81868135-81868151 chr14:81868531-81868547 chr14:81868525-81868542
41	MEF2A	chr14:81867811-81868048	GM12878	blood:	n/a	n/a
42	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
43	POLR2A	chr14:81866517-81867878	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr14:81867699-81868207	U87	brain:	n/a	n/a
45	FOS	chr14:81866618-81868200	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
46	GTF3C2	chr14:81866903-81867847	Hela-S3	cervix:	n/a	n/a
47	JUN	chr14:81867842-81868722	K562	blood:	n/a	chr14:81868006-81868016 chr14:81868511-81868519 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868007-81868015 chr14:81868006-81868016
48	MXI1	chr14:81866464-81868212	Hela-S3	cervix:	n/a	n/a
49	SMC3	chr14:81866456-81868307	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr14:81867778-81868116	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81866745..81868446-chr14:81903093..81904882,2	K562	blood:
2	chr14:81867720..81869556-chr14:81873808..81876587,2	MCF-7	breast:
3	chr14:81866040..81868691-chr14:81870203..81872674,2	K562	blood:
4	chr14:81867077..81868960-chr14:81900756..81902701,2	K562	blood:
5	chr14:81865587..81872038-chr14:81887440..81896764,13	K562	blood:
6	chr14:81684503..81687134-chr14:81866673..81870053,4	K562	blood:
7	chr14:81865470..81868504-chr14:81891136..81896392,5	K562	blood:
8	chr14:81685583..81687332-chr14:81866862..81869553,2	K562	blood:
9	chr14:81852266..81853780-chr14:81865825..81868508,2	K562	blood:
10	chr14:81867029..81868586-chr14:81887440..81889989,2	K562	blood:
11	chr14:81685490..81687621-chr14:81866238..81868620,4	MCF-7	breast:
12	chr14:81866819..81868444-chr14:81899264..81901997,2	K562	blood:

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

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1003258	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10135926	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10146094	0.82[AMR][1000 genomes]
rs10147416	0.80[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12588572	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs1569012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111790	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs2145123	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2371599	0.82[CHB][hapmap]
rs2371602	0.81[CHB][hapmap]
rs28476767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3825606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3844533	0.86[ASN][1000 genomes]
rs3844534	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs3853419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3853420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3853421	0.88[ASN][1000 genomes]
rs3915222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4110459	0.86[ASN][1000 genomes]
rs4110460	0.88[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[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4290414	0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4903982	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574649	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6574650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574653	0.81[CHB][hapmap]
rs7153104	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153556	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160907	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72703752	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72703760	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018198	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8020806	0.88[ASN][1000 genomes]
rs8022070	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs9652383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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:62 , 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	chr14:81861000-81873000	Weak transcription	HepG2	liver
4	chr14:81861400-81869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
6	chr14:81861600-81873200	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:81862800-81881400	Weak transcription	Fetal Intestine Small	intestine
8	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:81864600-81870000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:81864800-81869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:81865000-81869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:81865000-81889400	Weak transcription	Ovary	ovary
15	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:81865200-81870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:81865400-81873000	Weak transcription	Liver	Liver
18	chr14:81865800-81869200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:81866000-81868800	Enhancers	Primary hematopoietic stem cells	blood
20	chr14:81866200-81868000	Flanking Active TSS	Hela-S3	cervix
21	chr14:81866200-81868600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:81866200-81869000	Enhancers	Placenta	Placenta
23	chr14:81866200-81869200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:81866200-81869200	Enhancers	NHLF	lung
25	chr14:81866200-81869400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:81866400-81868000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:81866400-81868400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:81866600-81868000	Weak transcription	Lung	lung
29	chr14:81866600-81868000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:81866600-81868600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:81866800-81868200	Weak transcription	Psoas Muscle	Psoas
32	chr14:81867000-81868400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:81867000-81868400	Flanking Active TSS	NH-A	brain
34	chr14:81867000-81868800	Enhancers	Brain Anterior Caudate	brain
35	chr14:81867200-81868200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:81867400-81868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:81867400-81868200	Weak transcription	Esophagus	oesophagus
38	chr14:81867400-81868600	Weak transcription	Spleen	Spleen
39	chr14:81867400-81869400	Enhancers	HMEC	breast
40	chr14:81867600-81868000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:81867600-81868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:81867600-81868400	Flanking Active TSS	Osteobl	bone
43	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:81867800-81868000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:81867800-81868000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr14:81867800-81868000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:81867800-81868200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:81867800-81868200	Weak transcription	Adipose Nuclei	Adipose
49	chr14:81867800-81868200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:81867800-81868200	Enhancers	HSMMtube	muscle

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