Variant report

Variant	rs1335540
Chromosome Location	chr10:26727238-26727239
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:150 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:26726540-26727810	GM12892	blood:	n/a	n/a
2	RELA	chr10:26726539-26728310	GM18505	blood:	n/a	n/a
3	MYC	chr10:26726554-26728130	NB4	blood:	n/a	chr10:26727992-26728002
4	CTCF	chr10:26727200-26727350	GM12875	blood:	n/a	n/a
5	CTCF	chr10:26727200-26727350	GM12873	blood:	n/a	n/a
6	POLR2A	chr10:26726480-26727970	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:26726500-26728303	GM12878	blood:	n/a	n/a
8	MAX	chr10:26726893-26727498	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr10:26727220-26727370	GM06990	blood:	n/a	n/a
10	POLR2A	chr10:26726531-26729197	GM12892	blood:	n/a	n/a
11	NRF1	chr10:26727040-26727685	GM12878	blood:	n/a	n/a
12	ZNF143	chr10:26726483-26727799	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:26726572-26729306	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:26726689-26727925	NB4	blood:	n/a	n/a
15	CTCF	chr10:26727220-26727419	GM19240	blood:	n/a	n/a
16	MAFK	chr10:26727055-26727388	HepG2	liver:	n/a	chr10:26727217-26727228 chr10:26727219-26727236
17	POLR2A	chr10:26726589-26728278	GM18526	blood:	n/a	n/a
18	STAT5A	chr10:26726496-26728412	GM12878	blood:	n/a	chr10:26726633-26726645 chr10:26727404-26727412 chr10:26727994-26728006 chr10:26727012-26727024 chr10:26726749-26726756
19	POLR2A	chr10:26726889-26727405	GM12878	blood:	n/a	n/a
20	CTCF	chr10:26727220-26727370	GM12872	blood:	n/a	n/a
21	RELA	chr10:26726521-26728217	GM15510	blood:	n/a	n/a
22	CEBPB	chr10:26726695-26727375	K562	blood:	n/a	chr10:26727183-26727194
23	CTCF	chr10:26727120-26727270	GM12875	blood:	n/a	n/a
24	RAD21	chr10:26726484-26727721	GM12878	blood:	n/a	n/a
25	CTCF	chr10:26727231-26727330	GM12878	blood:	n/a	n/a
26	POLR2A	chr10:26726980-26727290	U87	brain:	n/a	n/a
27	POLR2A	chr10:26726508-26727851	GM12892	blood:	n/a	n/a
28	POLR2A	chr10:26726490-26728294	GM19193	blood:	n/a	n/a
29	RELA	chr10:26726425-26728241	GM19193	blood:	n/a	n/a
30	PML	chr10:26726411-26728108	GM12878	blood:	n/a	n/a
31	CUX1	chr10:26726579-26727495	GM12878	blood:	n/a	n/a
32	CTCF	chr10:26727220-26727370	GM12865	blood:	n/a	n/a
33	MAZ	chr10:26726395-26728372	GM12878	blood:	n/a	chr10:26727992-26728002
34	SRF	chr10:26727046-26727309	GM12878	blood:	n/a	n/a
35	RUNX3	chr10:26726406-26727766	GM12878	blood:	n/a	n/a
36	YY1	chr10:26726747-26727428	GM12878	blood:	n/a	n/a
37	CHD1	chr10:26726538-26729669	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:26726692-26727409	GM12878	blood:	n/a	n/a
39	NFIC	chr10:26726404-26728262	GM12878	blood:	n/a	n/a
40	SPI1	chr10:26726941-26727356	GM12891	blood:	n/a	chr10:26727204-26727211 chr10:26727203-26727212 chr10:26727200-26727213
41	NFIC	chr10:26726446-26727555	GM12878	blood:	n/a	n/a
42	TCF3	chr10:26726593-26727320	GM12878	blood:	n/a	n/a
43	TCF12	chr10:26726946-26727248	GM12878	blood:	n/a	n/a
44	CTCF	chr10:26727200-26727350	HBMEC	blood vessel:	n/a	n/a
45	TAF1	chr10:26727125-26727406	GM12891	blood:	n/a	n/a
46	ELF1	chr10:26726909-26727404	GM12878	blood:	n/a	chr10:26727201-26727212
47	STAT1	chr10:26726772-26727252	GM12878	blood:	n/a	chr10:26727012-26727024
48	POLR2A	chr10:26726364-26728269	HL-60	blood:	n/a	n/a
49	SPI1	chr10:26727089-26727294	GM12878	blood:	n/a	chr10:26727204-26727211 chr10:26727203-26727212 chr10:26727200-26727213
50	BCLAF1	chr10:26726343-26728234	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:26727195-26727245	HRE	kidney:	n/a
2	chr10:26727195-26727245	H1-hESC	embryonic stem cell:	embryo
3	chr10:26727195-26727245	NB4	blood:	n/a
4	chr10:26727195-26727245	HUVEC	blood vessel:	n/a
5	chr10:26727195-26727245	A549	lung:	n/a
6	chr10:26727195-26727245	GM12891	blood:	n/a
7	chr10:26727195-26727245	NH-A	brain:	n/a
8	chr10:26727195-26727245	PrEC	prostate:	n/a
9	chr10:26727195-26727245	IMR90	lung:	fetal
10	chr10:26727195-26727245	BJ	skin:	n/a
11	chr10:26727195-26727245	AG09309	skin:	n/a
12	chr10:26727195-26727245	Hela-S3	cervix:	n/a
13	chr10:26727195-26727245	SKMC	muscle:	n/a
14	chr10:26727195-26727245	GM12878	blood:	n/a
15	chr10:26727195-26727245	Jurkat	blood:	n/a
16	chr10:26727195-26727245	K562	blood:	n/a
17	chr10:26727195-26727245	PANC-1	pancreas:	n/a
18	chr10:26727195-26727245	HEEpiC	esophagus:	n/a
19	chr10:26727195-26727245	AG09319	gingival:	n/a
20	chr10:26727195-26727245	AG04449	skin:	fetal
21	chr10:26727195-26727245	CMK	blood:	n/a
22	chr10:26727195-26727245	AoSMC	blood vessel:	n/a
23	chr10:26727195-26727245	HMEC	breast:	n/a
24	chr10:26727195-26727245	ECC-1	luminal epithelium:	n/a
25	chr10:26727195-26727245	U87	brain:	n/a
26	chr10:26727195-26727245	NHBE	bronchial:	n/a
27	chr10:26727195-26727245	NHDF-neo	bronchial:	n/a
28	chr10:26727195-26727245	ovcar-3	ovarian:	n/a
29	chr10:26727195-26727245	SK-N-MC	brain:	n/a
30	chr10:26727195-26727245	SK-N-SH_RA	brain:	n/a
31	chr10:26727195-26727245	HEK293	kidney:	embryo
32	chr10:26727195-26727245	SAEC	small airway:	n/a
33	chr10:26727195-26727245	HCPEpiC	choroid plexus:	n/a
34	chr10:26727195-26727245	HRCEpiC	kidney:	n/a
35	chr10:26727195-26727245	MCF-7	breast:	n/a
36	chr10:26727195-26727245	HNPCEpiC	eye:	n/a
37	chr10:26727195-26727245	Hepatocyte	liver:	n/a
38	chr10:26727195-26727245	LNCaP	prostate:	n/a
39	chr10:26727195-26727245	GM12892	blood:	n/a
40	chr10:26727195-26727245	NT2-D1	testis:	n/a
41	chr10:26727195-26727245	AG04450	lung:	fetal
42	chr10:26727195-26727245	SK-N-SH	brain:	n/a
43	chr10:26727195-26727245	T-47D	breast:	n/a
44	chr10:26727195-26727245	HepG2	liver:	n/a
45	chr10:26727195-26727245	PFSK-1	brain:	n/a
46	chr10:26727195-26727245	HL-60	blood:	n/a
47	chr10:26727195-26727245	HCF	heart:	n/a
48	chr10:26727195-26727245	AG10803	skin:	n/a
49	chr10:26727195-26727245	HRPEpiC	eye:	n/a
50	chr10:26727195-26727245	GM19239	blood:	n/a

No data

Variant related genes	Relation type
APBB1IP	TF binding region
APBB1IP	CpG island

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11595895	0.94[EUR][1000 genomes]
rs12770943	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12783726	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12783831	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1335551	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1335552	0.87[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1889686	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1889692	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1889693	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2184571	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2992261	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2992262	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2992263	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2992325	0.92[EUR][1000 genomes]
rs2992332	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2992333	0.92[CEU][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2992334	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2992335	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3006802	0.88[EUR][1000 genomes]
rs3006807	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006808	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006810	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006811	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006813	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006815	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3006816	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006818	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006819	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006821	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006835	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs35055608	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36120850	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4317881	0.86[EUR][1000 genomes]
rs4749125	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4749126	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59819668	0.88[EUR][1000 genomes]
rs703005	0.80[EUR][1000 genomes]
rs7098710	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7901056	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9284109	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9299819	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9299820	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9299821	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945294	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1043832	chr10:26669040-26809400	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1335540	APBB1IP	cis	Thyroid	GTEx
rs1335540	APBB1IP	cis	Artery Tibial	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26725600-26730400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr10:26726000-26728000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr10:26726000-26729400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:26726000-26730200	Active TSS	Thymus	Thymus
5	chr10:26726000-26730800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr10:26726200-26728000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:26726200-26730200	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr10:26726400-26727400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr10:26726400-26727400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr10:26726400-26727600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr10:26726400-26729200	Active TSS	Duodenum Mucosa	Duodenum
12	chr10:26726400-26729200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr10:26726400-26730200	Active TSS	Fetal Thymus	thymus
14	chr10:26726600-26727400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr10:26726600-26727600	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr10:26726600-26727600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:26726600-26727600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:26726600-26728200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr10:26726600-26728600	Active TSS	Colonic Mucosa	Colon
20	chr10:26726600-26729400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:26726800-26727400	Active TSS	Brain Anterior Caudate	brain
22	chr10:26726800-26727600	Enhancers	Gastric	stomach
23	chr10:26726800-26727800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr10:26726800-26728200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr10:26726800-26728200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr10:26726800-26728200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr10:26726800-26728200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr10:26726800-26728200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr10:26726800-26728200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr10:26726800-26728200	Bivalent/Poised TSS	Left Ventricle	heart
31	chr10:26726800-26728200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr10:26726800-26728600	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr10:26726800-26729000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr10:26726800-26729000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr10:26726800-26729000	Active TSS	Rectal Smooth Muscle	rectum
36	chr10:26727000-26727400	Active TSS	Adipose Nuclei	Adipose
37	chr10:26727000-26727400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr10:26727000-26727400	Flanking Active TSS	Placenta	Placenta
39	chr10:26727000-26727400	Flanking Active TSS	Lung	lung
40	chr10:26727000-26727600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:26727000-26727600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr10:26727000-26727600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr10:26727000-26727800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr10:26727000-26728000	Bivalent Enhancer	Fetal Brain Male	brain
45	chr10:26727000-26728200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:26727000-26728200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr10:26727000-26728200	Active TSS	Spleen	Spleen
48	chr10:26727000-26728400	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr10:26727000-26728600	Active TSS	Osteobl	bone
50	chr10:26727000-26729000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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