Variant report

Variant	rs3767730
Chromosome Location	chr1:224302955-224302956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224301465..224303000-chr1:224620703..224623446,2	K562	blood:
2	chr1:224301568..224304233-chr1:224516678..224521021,7	MCF-7	breast:
3	chr1:224300829..224303053-chr1:224369472..224372249,3	K562	blood:
4	chr1:224299141..224303224-chr1:224514971..224520507,6	MCF-7	breast:
5	chr1:224300372..224302965-chr1:224620010..224622203,2	K562	blood:
6	chr1:224296083..224298373-chr1:224302570..224304923,2	K562	blood:
7	chr1:224300672..224304210-chr1:224370293..224374026,4	K562	blood:
8	chr1:224301518..224303239-chr1:224517881..224519939,3	K562	blood:
9	chr1:224293723..224297684-chr1:224300401..224303649,6	MCF-7	breast:
10	chr1:224301888..224304582-chr1:224366795..224368300,2	MCF-7	breast:
11	chr1:224302275..224304039-chr1:224543253..224546119,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000252484	Chromatin interaction
ENSG00000201898	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000143748	Chromatin interaction
ENSG00000143771	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10753454	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10799478	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10799480	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10799505	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10916301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916307	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916355	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10916367	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10916371	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10916403	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10916415	0.89[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs11808787	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12038372	0.87[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap];0.81[ASN][1000 genomes]
rs12049583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12070670	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12076788	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12563153	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12730611	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13374070	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1492694	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16844819	0.89[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap];0.83[ASN][1000 genomes]
rs17560970	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1826421	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2011117	0.81[CHB][hapmap]
rs2014782	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2048997	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2051105	0.82[ASN][1000 genomes]
rs2172361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404843	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2896985	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3820482	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653563	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653564	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653568	0.81[CHB][hapmap]
rs4653972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653986	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653991	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654003	0.81[CHB][hapmap]
rs55664906	0.81[EUR][1000 genomes]
rs55736782	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61827699	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6426139	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6426143	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6426169	0.85[ASN][1000 genomes]
rs6426178	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs66506223	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6657467	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6658494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6659234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6680651	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6681673	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6682292	0.81[CHB][hapmap]
rs6682551	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6685405	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6685783	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6688818	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6690695	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691405	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6698041	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6700284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7511895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7518839	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7524705	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7526252	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7531891	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7542293	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7546235	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8328	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs869945	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs908795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908801	0.81[CHB][hapmap]
rs997296	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs997297	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3767730	FBXO28	cis	multi-tissue	Pritchard
rs3767730	BPNT1	cis	parietal	SCAN
rs3767730	RP11-365O16.3	cis	Skin Sun Exposed Lower leg	GTEx
rs3767730	FBXO28	cis	lymphoblastoid	seeQTL
rs3767730	FBXO28	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224301200-224303000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:224301200-224303000	Active TSS	Brain Hippocampus Middle	brain
3	chr1:224301200-224303000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:224301200-224303000	Active TSS	Fetal Brain Female	brain
5	chr1:224301200-224303000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:224301200-224303000	Active TSS	A549	lung
7	chr1:224301200-224303200	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:224301200-224303400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:224301200-224303600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:224301200-224304000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:224301200-224304000	Active TSS	NHLF	lung
12	chr1:224301200-224304400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:224301200-224304400	Active TSS	Right Atrium	heart
14	chr1:224301400-224303000	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:224301400-224303000	Active TSS	Colonic Mucosa	Colon
16	chr1:224301400-224303000	Active TSS	Fetal Muscle Leg	muscle
17	chr1:224301400-224303000	Active TSS	Placenta	Placenta
18	chr1:224301400-224303000	Active TSS	Fetal Thymus	thymus
19	chr1:224301400-224303000	Active TSS	Ovary	ovary
20	chr1:224301400-224303200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:224301400-224303200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:224301400-224303200	Active TSS	Duodenum Mucosa	Duodenum
23	chr1:224301400-224303200	Active TSS	HSMMtube	muscle
24	chr1:224301400-224303200	Active TSS	NHDF-Ad	bronchial
25	chr1:224301400-224303400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:224301400-224303400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:224301400-224303400	Active TSS	Fetal Intestine Large	intestine
28	chr1:224301400-224303600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:224301400-224303600	Active TSS	Fetal Intestine Small	intestine
30	chr1:224301400-224303600	Active TSS	GM12878-XiMat	blood
31	chr1:224301400-224303800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:224301600-224303000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:224301600-224303000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:224301600-224303000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:224301600-224303000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:224301600-224303000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:224301600-224303000	Active TSS	Fetal Kidney	kidney
38	chr1:224301600-224303000	Active TSS	Rectal Smooth Muscle	rectum
39	chr1:224301600-224303200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:224301600-224303200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:224301600-224303400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:224301600-224303400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:224301600-224303400	Active TSS	HMEC	breast
44	chr1:224301600-224303400	Active TSS	K562	blood
45	chr1:224301600-224303400	Active TSS	NHEK	skin
46	chr1:224301600-224303600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:224301600-224303800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:224301600-224303800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:224301600-224304000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:224301600-224304400	Active TSS	HUES6 Cell Line	embryonic stem cell

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