Variant report

Variant	rs3735453
Chromosome Location	chr7:99229435-99229436
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99228963..99230026-chr7:99435320..99436119,4	MCF-7	breast:
2	chr7:99174028..99175848-chr7:99226635..99229515,2	K562	blood:
3	chr7:99227217..99229692-chr7:99515669..99518540,2	K562	blood:
4	chr7:99229171..99229923-chr7:99435691..99436334,2	MCF-7	breast:
5	chr7:99228346..99230589-chr7:99239970..99242108,2	K562	blood:
6	chr7:99228894..99231591-chr7:99234960..99236769,2	K562	blood:
7	chr6:54711477..54713187-chr7:99228936..99230436,2	MCF-7	breast:
8	chr7:99228995..99229922-chr7:99588200..99589102,3	K562	blood:
9	chr7:99101808..99103937-chr7:99227175..99231187,3	MCF-7	breast:
10	chr6:54711085..54712590-chr7:99228914..99230434,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168143	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000224448	Chromatin interaction
ENSG00000146833	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10211	0.89[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10227637	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10229552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10238965	0.84[JPT][hapmap]
rs10242455	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10254729	0.84[JPT][hapmap]
rs10258552	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10282706	1.00[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772470	0.84[JPT][hapmap]
rs12333599	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12334072	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12334077	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12360	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13362853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357319	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs1403196	0.86[ASN][1000 genomes]
rs1419745	0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs15524	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161774	0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs17161780	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17161783	0.90[CHB][hapmap];0.80[CHD][hapmap]
rs1818797	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1851425	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1859690	0.94[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1879859	0.89[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2037497	0.83[ASN][1000 genomes]
rs2037498	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs2037499	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2090949	0.83[ASN][1000 genomes]
rs2140128	0.83[ASN][1000 genomes]
rs2177180	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2222411	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs2257401	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2404769	0.83[ASN][1000 genomes]
rs2404770	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2687072	0.83[ASN][1000 genomes]
rs2687075	0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs2687076	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs2687077	0.86[ASN][1000 genomes]
rs2687078	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2687079	0.89[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2687081	0.94[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2687084	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2687085	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2687086	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2687087	0.89[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2687133	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2687134	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.81[ASN][1000 genomes]
rs2687135	0.83[ASN][1000 genomes]
rs2687136	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs2687137	0.83[ASN][1000 genomes]
rs2687139	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2687140	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2687141	0.83[ASN][1000 genomes]
rs2687142	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.83[ASN][1000 genomes]
rs2687143	0.83[ASN][1000 genomes]
rs2687144	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2687145	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs2740558	0.83[ASN][1000 genomes]
rs2740559	0.83[ASN][1000 genomes]
rs2740560	0.83[ASN][1000 genomes]
rs2740561	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2740562	0.82[ASN][1000 genomes]
rs2740563	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2740565	0.89[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2741872	0.81[ASN][1000 genomes]
rs2948343	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2948344	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3800960	0.82[JPT][hapmap]
rs3823812	0.80[ASN][1000 genomes]
rs45624139	0.83[ASN][1000 genomes]
rs4646446	0.85[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4646447	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4646449	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4646450	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs4646453	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4646456	0.90[CHB][hapmap];0.80[CHD][hapmap]
rs4646457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646458	0.90[CHB][hapmap];0.97[GIH][hapmap]
rs4646461	0.81[ASN][1000 genomes]
rs4646465	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55852703	0.83[ASN][1000 genomes]
rs58024720	0.81[ASN][1000 genomes]
rs58649180	0.81[ASN][1000 genomes]
rs60865030	0.85[ASN][1000 genomes]
rs6465750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6961634	0.84[JPT][hapmap]
rs72494455	0.81[ASN][1000 genomes]
rs73410654	0.83[ASN][1000 genomes]
rs776741	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs776742	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs776744	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs776745	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs776746	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780328	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7808022	0.94[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs868564	0.85[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9769359	0.95[AMR][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	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv981815	chr7:99224245-99235459	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3735453	USP3	trans	brain	seeQTL
rs3735453	PILRB	cis	brain	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99215000-99236000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99215800-99229600	Weak transcription	Right Atrium	heart
3	chr7:99215800-99231800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:99215800-99232200	Strong transcription	Fetal Stomach	stomach
5	chr7:99216000-99231400	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr7:99216200-99229800	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr7:99216200-99230200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:99216200-99230400	Strong transcription	NHLF	lung
9	chr7:99216200-99230600	Strong transcription	Adipose Nuclei	Adipose
10	chr7:99216200-99231800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:99216200-99231800	Strong transcription	Placenta	Placenta
12	chr7:99216200-99231800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:99216200-99232000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:99216200-99232000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:99216200-99232000	Strong transcription	Fetal Intestine Large	intestine
16	chr7:99216200-99232200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr7:99216200-99232200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:99216200-99232200	Strong transcription	Lung	lung
19	chr7:99216400-99230600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:99216400-99231600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr7:99216400-99231800	Strong transcription	Fetal Brain Female	brain
22	chr7:99216400-99232000	Strong transcription	Primary B cells from cord blood	blood
23	chr7:99216400-99232000	Strong transcription	GM12878-XiMat	blood
24	chr7:99216400-99232400	Strong transcription	Brain Germinal Matrix	brain
25	chr7:99216600-99230400	Strong transcription	Colonic Mucosa	Colon
26	chr7:99216600-99230400	Strong transcription	HUVEC	blood vessel
27	chr7:99216600-99230800	Strong transcription	Liver	Liver
28	chr7:99216600-99231800	Strong transcription	Brain Substantia Nigra	brain
29	chr7:99216600-99231800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr7:99216800-99232000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:99217000-99229800	Strong transcription	Aorta	Aorta
32	chr7:99217000-99230400	Strong transcription	Rectal Smooth Muscle	rectum
33	chr7:99217000-99231400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:99217200-99229800	Strong transcription	Hela-S3	cervix
35	chr7:99217200-99231800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:99217600-99230800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:99218000-99230800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:99218000-99232200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:99220600-99230800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:99220600-99232200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:99221000-99230400	Weak transcription	Stomach Mucosa	stomach
42	chr7:99221600-99231800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:99221600-99231800	Strong transcription	Spleen	Spleen
44	chr7:99221800-99232000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr7:99222600-99232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:99223000-99232600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:99223200-99230800	Strong transcription	Thymus	Thymus
48	chr7:99223200-99231800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:99223200-99231800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:99223400-99229800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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