Variant report

Variant	rs3087750
Chromosome Location	chr8:91094983-91094984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:91094823-91095176	U87	brain:	n/a	n/a
2	REST	chr8:91094848-91095297	U87	brain:	n/a	n/a
3	HDAC2	chr8:91094684-91095412	MCF-7	breast:	n/a	n/a
4	REST	chr8:91094847-91095220	HepG2	liver:	n/a	n/a
5	REST	chr8:91094712-91095335	A549	lung:	n/a	n/a
6	MAX	chr8:91094816-91095299	K562	blood:	n/a	n/a
7	POLR2A	chr8:91094884-91095246	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOXP2	chr8:91094808-91095223	SK-N-MC	brain:	n/a	n/a
9	ZNF384	chr8:91094892-91095284	K562	blood:	n/a	n/a
10	E2F6	chr8:91094853-91095130	K562	blood:	n/a	n/a
11	POLR2A	chr8:91094896-91095199	H1-hESC	embryonic stem cell:	n/a	n/a
12	HDAC2	chr8:91094719-91095359	MCF-7	breast:	n/a	n/a
13	REST	chr8:91094953-91095104	PANC-1	pancreas:	n/a	n/a
14	SIN3AK20	chr8:91094932-91095161	PFSK-1	brain:	n/a	n/a
15	RAD21	chr8:91094973-91095373	H1-hESC	embryonic stem cell:	n/a	chr8:91095287-91095301
16	RAD21	chr8:91094880-91095432	H1-hESC	embryonic stem cell:	n/a	chr8:91095287-91095301
17	REST	chr8:91094851-91095343	HepG2	liver:	n/a	n/a
18	REST	chr8:91094538-91095489	K562	blood:	n/a	n/a
19	TEAD4	chr8:91094658-91095462	A549	lung:	n/a	n/a
20	POLR2A	chr8:91094861-91095267	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:91094934-91095090	MCF-7	breast:	n/a	n/a
22	TEAD4	chr8:91094825-91095446	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr8:91094788-91095360	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr8:91094843-91095390	H1-neurons	neurons:	n/a	n/a
25	RAD21	chr8:91094858-91095309	ECC-1	luminal epithelium:	n/a	chr8:91095287-91095301
26	REST	chr8:91094849-91095231	Hela-S3	cervix:	n/a	n/a
27	HDAC2	chr8:91094852-91095167	K562	blood:	n/a	n/a
28	JUND	chr8:91094910-91095298	K562	blood:	n/a	n/a
29	YY1	chr8:91094808-91095335	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr8:91094855-91095177	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:91094829-91095226	K562	blood:	n/a	n/a
32	TEAD4	chr8:91094874-91095354	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr8:91094847-91095272	H1-hESC	embryonic stem cell:	n/a	n/a
34	TEAD4	chr8:91094756-91095288	K562	blood:	n/a	n/a
35	MAX	chr8:91094814-91095139	K562	blood:	n/a	n/a
36	MAX	chr8:91094685-91095402	H1-hESC	embryonic stem cell:	n/a	n/a
37	EP300	chr8:91094958-91095313	K562	blood:	n/a	n/a
38	MYC	chr8:91094879-91095240	MCF-7	breast:	n/a	n/a
39	REST	chr8:91094104-91095737	MCF-7	breast:	n/a	n/a
40	REST	chr8:91094624-91095622	PANC-1	pancreas:	n/a	n/a
41	TBP	chr8:91094886-91095329	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr8:91094796-91095236	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr8:91094788-91095430	GM12878	blood:	n/a	n/a
44	RCOR1	chr8:91094816-91095277	K562	blood:	n/a	n/a
45	RAD21	chr8:91094850-91095320	SK-N-SH_RA	brain:	n/a	chr8:91095287-91095301
46	SIN3AK20	chr8:91094571-91095560	MCF-7	breast:	n/a	n/a
47	CTCF	chr8:91094982-91095008	Fibrobl	skin:	n/a	n/a
48	MAX	chr8:91094855-91095229	HepG2	liver:	n/a	n/a
49	UBTF	chr8:91094908-91095176	K562	blood:	n/a	n/a
50	ZBTB7A	chr8:91094898-91095163	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
CALB1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10088137	0.85[EUR][1000 genomes]
rs10094625	0.82[EUR][1000 genomes]
rs10095826	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100369	0.91[EUR][1000 genomes]
rs10100993	0.85[EUR][1000 genomes]
rs10109405	0.88[EUR][1000 genomes]
rs10113507	0.88[EUR][1000 genomes]
rs1073074	0.81[EUR][1000 genomes]
rs10956427	0.81[EUR][1000 genomes]
rs12171665	0.85[EUR][1000 genomes]
rs1476590	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1554927	0.91[EUR][1000 genomes]
rs1805806	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1805807	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1805809	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1805864	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1805868	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1805869	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1805871	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805874	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805889	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2049815	0.81[EUR][1000 genomes]
rs2049816	0.81[EUR][1000 genomes]
rs2063976	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2103432	0.88[EUR][1000 genomes]
rs2107466	0.81[EUR][1000 genomes]
rs2142093	0.86[EUR][1000 genomes]
rs2142094	0.86[EUR][1000 genomes]
rs2178830	0.85[EUR][1000 genomes]
rs2189261	0.83[EUR][1000 genomes]
rs2189618	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2205108	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2840205	0.84[EUR][1000 genomes]
rs34915823	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35044745	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3758146	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4961165	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4961169	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4961171	0.84[EUR][1000 genomes]
rs6994668	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7010368	0.84[EUR][1000 genomes]
rs7011734	0.84[EUR][1000 genomes]
rs7459845	0.80[EUR][1000 genomes]
rs7459846	0.80[EUR][1000 genomes]
rs7831184	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9774207	0.82[EUR][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	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3087750	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91091200-91095400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:91093200-91095400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:91093400-91095000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:91093600-91095000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:91093600-91095200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr8:91093600-91095200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:91093600-91095400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:91094000-91095000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:91094000-91095200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:91094000-91095200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:91094000-91095400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:91094000-91095400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:91094200-91095000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:91094200-91095000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr8:91094200-91095200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:91094200-91095200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr8:91094200-91095400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr8:91094200-91095400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr8:91094400-91095000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:91094400-91095400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:91094400-91095400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr8:91094400-91095400	Enhancers	Pancreas	Pancrea
23	chr8:91094600-91095000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:91094600-91095000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:91094600-91095000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr8:91094600-91095000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:91094600-91095000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
28	chr8:91094600-91095000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
29	chr8:91094600-91095000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr8:91094600-91095000	Flanking Active TSS	Right Ventricle	heart
31	chr8:91094600-91095200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr8:91094600-91095200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr8:91094600-91095200	Bivalent Enhancer	Lung	lung
34	chr8:91094800-91095000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:91094800-91095000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:91094800-91095000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr8:91094800-91095000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:91094800-91095000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:91094800-91095000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:91094800-91095000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr8:91094800-91095000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr8:91094800-91095000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr8:91094800-91095000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:91094800-91095000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
45	chr8:91094800-91095000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:91094800-91095000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr8:91094800-91095000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:91094800-91095000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:91094800-91095000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:91094800-91095000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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