Variant report

Variant	rs3006815
Chromosome Location	chr10:26723767-26723768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:26723760-26723910	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:26723747-26723797	AG04450	lung:	fetal
2	chr10:26723747-26723797	HL-60	blood:	n/a
3	chr10:26723747-26723797	MCF-7	breast:	n/a
4	chr10:26723747-26723797	A549	lung:	n/a
5	chr10:26723747-26723797	AG04449	skin:	fetal
6	chr10:26723747-26723797	HCPEpiC	choroid plexus:	n/a
7	chr10:26723747-26723797	HEEpiC	esophagus:	n/a
8	chr10:26723747-26723797	HCF	heart:	n/a
9	chr10:26723747-26723797	HepG2	liver:	n/a
10	chr10:26723747-26723797	IMR90	lung:	fetal
11	chr10:26723747-26723797	SK-N-MC	brain:	n/a
12	chr10:26723747-26723797	GM12892	blood:	n/a
13	chr10:26723747-26723797	BJ	skin:	n/a
14	chr10:26723747-26723797	GM06990	blood:	n/a
15	chr10:26723747-26723797	ProgFib	skin:	n/a
16	chr10:26723747-26723797	HPAEpiC	pulmonary alveolar:	n/a
17	chr10:26723747-26723797	LNCaP	prostate:	n/a
18	chr10:26723747-26723797	NHBE	bronchial:	n/a
19	chr10:26723747-26723797	Hepatocyte	liver:	n/a
20	chr10:26723747-26723797	NH-A	brain:	n/a
21	chr10:26723747-26723797	HMEC	breast:	n/a
22	chr10:26723747-26723797	HRE	kidney:	n/a
23	chr10:26723747-26723797	T-47D	breast:	n/a
24	chr10:26723747-26723797	BE2_C	brain:	n/a
25	chr10:26723747-26723797	CMK	blood:	n/a
26	chr10:26723747-26723797	ECC-1	luminal epithelium:	n/a
27	chr10:26723747-26723797	HUVEC	blood vessel:	n/a
28	chr10:26723747-26723797	HRCEpiC	kidney:	n/a
29	chr10:26723747-26723797	HNPCEpiC	eye:	n/a
30	chr10:26723747-26723797	AG09319	gingival:	n/a
31	chr10:26723747-26723797	HAEpiC	amniotic membrane:	n/a
32	chr10:26723747-26723797	SKMC	muscle:	n/a
33	chr10:26723747-26723797	Caco-2	colon:	n/a
34	chr10:26723747-26723797	HCM	heart:	n/a
35	chr10:26723747-26723797	SAEC	small airway:	n/a
36	chr10:26723747-26723797	HCT-116	colon:	n/a
37	chr10:26723747-26723797	H1-hESC	embryonic stem cell:	embryo
38	chr10:26723747-26723797	ovcar-3	ovarian:	n/a
39	chr10:26723747-26723797	MCF10A-Er-Src	breast:	n/a
40	chr10:26723747-26723797	AG10803	skin:	n/a
41	chr10:26723747-26723797	Hela-S3	cervix:	n/a
42	chr10:26723747-26723797	K562	blood:	n/a
43	chr10:26723747-26723797	HIPEpiC	eye:	n/a
44	chr10:26723747-26723797	NT2-D1	testis:	n/a
45	chr10:26723747-26723797	NHDF-neo	bronchial:	n/a
46	chr10:26723747-26723797	PFSK-1	brain:	n/a
47	chr10:26723747-26723797	AG09309	skin:	n/a
48	chr10:26723747-26723797	RPTEC	kidney:	n/a
49	chr10:26723747-26723797	PrEC	prostate:	n/a
50	chr10:26723747-26723797	HRPEpiC	eye:	n/a

No data

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

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11595895	0.89[EUR][1000 genomes]
rs12770943	0.84[EUR][1000 genomes]
rs12783726	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12783831	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335540	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1335551	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1335552	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1889686	0.84[EUR][1000 genomes]
rs1889692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1889693	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2992261	0.84[EUR][1000 genomes]
rs2992262	0.84[EUR][1000 genomes]
rs2992263	0.84[EUR][1000 genomes]
rs2992325	0.95[EUR][1000 genomes]
rs2992332	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2992333	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2992334	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2992335	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3006802	0.84[EUR][1000 genomes]
rs3006807	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006808	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006810	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006811	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006813	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006819	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006835	0.84[EUR][1000 genomes]
rs35055608	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36120850	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4317881	0.82[EUR][1000 genomes]
rs4749125	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4749126	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59819668	0.84[EUR][1000 genomes]
rs7098710	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7901056	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9284109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9299819	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9299820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9299821	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945294	0.90[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
rs3006815	APBB1IP	cis	Artery Tibial	GTEx
rs3006815	APBB1IP	cis	Thyroid	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26718400-26726400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:26718800-26724000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:26719800-26725000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:26720000-26724800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr10:26720000-26725200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr10:26720400-26724400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:26720600-26724600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr10:26720600-26725000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr10:26720600-26725000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:26720800-26724400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr10:26720800-26725200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr10:26721000-26724800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:26721000-26724800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:26721000-26726600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:26721200-26724400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr10:26721200-26724800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:26722200-26725800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:26722400-26723800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr10:26722600-26726600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:26722600-26726600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:26722800-26724600	Weak transcription	Primary B cells from cord blood	blood
22	chr10:26722800-26724600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr10:26722800-26726600	Weak transcription	Osteobl	bone
24	chr10:26723000-26724400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr10:26723000-26724400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr10:26723000-26726000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:26723400-26723800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr10:26723400-26724400	Enhancers	Fetal Thymus	thymus
29	chr10:26723400-26726000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:26723600-26723800	Enhancers	Spleen	Spleen
31	chr10:26723600-26724400	Enhancers	Dnd41	blood

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