Variant report

Variant	rs10135926
Chromosome Location	chr14:81867120-81867121
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	CEBPB	chr14:81867103-81867662	ECC-1	luminal epithelium:	n/a	n/a
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	ZNF217	chr14:81867000-81867616	MCF-7	breast:	n/a	n/a
5	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
6	POLR2A	chr14:81866363-81867661	U87	brain:	n/a	n/a
7	STAT3	chr14:81866447-81868185	MCF10A-Er-Src	breast:	n/a	chr14:81866948-81866960 chr14:81866448-81866468
8	SMARCC1	chr14:81866950-81868705	Hela-S3	cervix:	n/a	chr14:81868006-81868015
9	CHD2	chr14:81866618-81867683	Hela-S3	cervix:	n/a	n/a
10	NFIC	chr14:81866385-81868116	ECC-1	luminal epithelium:	n/a	chr14:81866727-81866744 chr14:81866728-81866744 chr14:81866547-81866563 chr14:81866546-81866563
11	MAZ	chr14:81866563-81867505	K562	blood:	n/a	n/a
12	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
13	FOXM1	chr14:81866893-81867863	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr14:81867030-81867810	ECC-1	luminal epithelium:	n/a	n/a
15	JUN	chr14:81866401-81867804	K562	blood:	n/a	chr14:81866861-81866873 chr14:81867063-81867072
16	TAL1	chr14:81866536-81867207	K562	blood:	n/a	n/a
17	NR3C1	chr14:81867029-81867618	A549	lung:	n/a	n/a
18	STAT3	chr14:81866592-81868231	Hela-S3	cervix:	n/a	chr14:81866948-81866960
19	TEAD4	chr14:81866536-81868116	ECC-1	luminal epithelium:	n/a	n/a
20	ZNF263	chr14:81866522-81867542	HEK293-T-REx	kidney:	n/a	n/a
21	NR3C1	chr14:81867115-81867554	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr14:81867061-81868230	HCT-116	colon:	n/a	n/a
23	NR2F2	chr14:81866997-81867717	MCF-7	breast:	n/a	n/a
24	CEBPB	chr14:81866579-81867624	K562	blood:	n/a	n/a
25	NFIC	chr14:81866042-81868218	ECC-1	luminal epithelium:	n/a	chr14:81866727-81866744 chr14:81866728-81866744 chr14:81866547-81866563 chr14:81866546-81866563
26	NR3C1	chr14:81867108-81867646	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr14:81866433-81867663	U87	brain:	n/a	n/a
28	MAX	chr14:81866516-81868376	Hela-S3	cervix:	n/a	n/a
29	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
30	ZNF384	chr14:81866293-81867570	K562	blood:	n/a	n/a
31	CEBPB	chr14:81867085-81867786	MCF-7	breast:	n/a	n/a
32	RAD21	chr14:81866564-81868169	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr14:81866674-81868180	MCF10A-Er-Src	breast:	n/a	chr14:81866948-81866960
34	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
35	POLR2A	chr14:81866531-81867581	MCF10A-Er-Src	breast:	n/a	n/a
36	CEBPB	chr14:81867091-81868149	ECC-1	luminal epithelium:	n/a	n/a
37	ZKSCAN1	chr14:81866519-81868056	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr14:81866442-81868268	HCT-116	colon:	n/a	n/a
39	NR3C1	chr14:81867053-81867505	A549	lung:	n/a	n/a
40	MYC	chr14:81866596-81868163	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr14:81866483-81868812	K562	blood:	n/a	n/a
42	RAD21	chr14:81867050-81867735	ECC-1	luminal epithelium:	n/a	n/a
43	TCF7L2	chr14:81866439-81867635	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr14:81866499-81868180	Hela-S3	cervix:	n/a	n/a
45	TFAP2C	chr14:81866500-81867910	Hela-S3	cervix:	n/a	chr14:81867340-81867355
46	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
47	POLR2A	chr14:81866517-81867878	Hela-S3	cervix:	n/a	n/a
48	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
49	TBL1XR1	chr14:81866442-81867349	K562	blood:	n/a	n/a
50	GTF3C2	chr14:81866903-81867847	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	chr14:81866040..81868691-chr14:81870203..81872674,2	K562	blood:
3	chr14:81864941..81867433-chr14:81921571..81923631,2	K562	blood:
4	chr14:81867077..81868960-chr14:81900756..81902701,2	K562	blood:
5	chr14:81865587..81872038-chr14:81887440..81896764,13	K562	blood:
6	chr14:81865287..81867829-chr14:81917916..81919892,2	K562	blood:
7	chr14:81684503..81687134-chr14:81866673..81870053,4	K562	blood:
8	chr14:81865470..81868504-chr14:81891136..81896392,5	K562	blood:
9	chr14:81685583..81687332-chr14:81866862..81869553,2	K562	blood:
10	chr14:81852266..81853780-chr14:81865825..81868508,2	K562	blood:
11	chr14:81867029..81868586-chr14:81887440..81889989,2	K562	blood:
12	chr14:81685490..81687621-chr14:81866238..81868620,4	MCF-7	breast:
13	chr14:81866819..81868444-chr14:81899264..81901997,2	K562	blood:

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

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1003258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10147416	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588572	0.91[CHB][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1569012	0.80[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17111790	0.91[CHB][hapmap];0.80[GIH][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2145123	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2371596	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2371599	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs2371602	0.81[CHB][hapmap]
rs28476767	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825606	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3844533	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3844534	0.91[CHB][hapmap];0.80[GIH][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3853419	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853420	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853421	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3915222	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4110459	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4110460	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4110462	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4275784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4290414	0.91[CHB][hapmap];0.80[GIH][hapmap];0.89[ASN][1000 genomes]
rs4903982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574649	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574650	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574651	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574653	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs6574654	0.80[ASN][1000 genomes]
rs7153104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153600	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7156951	0.80[ASN][1000 genomes]
rs7160907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72703752	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72703760	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018198	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8020806	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8022070	0.81[ASW][hapmap];0.91[CHB][hapmap];0.80[GIH][hapmap];0.83[LWK][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9652383	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10135926	NGB	cis	cerebellum	SCAN
rs10135926	SPTLC2	cis	cerebellum	SCAN
rs10135926	STON2	cis	cerebellum	SCAN

Chromatin state (count:73 , 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	chr14:81860200-81867400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:81861000-81873000	Weak transcription	HepG2	liver
5	chr14:81861400-81869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
7	chr14:81861600-81873200	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:81862800-81867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:81862800-81881400	Weak transcription	Fetal Intestine Small	intestine
10	chr14:81864400-81867200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:81864600-81870000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:81864800-81867400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:81864800-81869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:81865000-81867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:81865000-81869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:81865000-81889400	Weak transcription	Ovary	ovary
20	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:81865200-81870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:81865400-81867200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:81865400-81873000	Weak transcription	Liver	Liver
24	chr14:81865800-81869200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:81866000-81867600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:81866000-81868800	Enhancers	Primary hematopoietic stem cells	blood
27	chr14:81866200-81867200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:81866200-81867200	Flanking Active TSS	HSMM	muscle
29	chr14:81866200-81867400	Enhancers	Esophagus	oesophagus
30	chr14:81866200-81867400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:81866200-81867600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr14:81866200-81867800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr14:81866200-81868000	Flanking Active TSS	Hela-S3	cervix
34	chr14:81866200-81868600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81866200-81869000	Enhancers	Placenta	Placenta
36	chr14:81866200-81869200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:81866200-81869200	Enhancers	NHLF	lung
38	chr14:81866200-81869400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:81866400-81867200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:81866400-81867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:81866400-81867200	Flanking Active TSS	Osteobl	bone
42	chr14:81866400-81867400	Enhancers	Spleen	Spleen
43	chr14:81866400-81867600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:81866400-81867600	Enhancers	Brain Substantia Nigra	brain
45	chr14:81866400-81867600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr14:81866400-81867800	Enhancers	Adipose Nuclei	Adipose
47	chr14:81866400-81867800	Enhancers	Fetal Muscle Leg	muscle
48	chr14:81866400-81868000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:81866400-81868400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:81866600-81867400	Enhancers	HUES6 Cell Line	embryonic stem cell

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