Variant report

Variant	rs4735635
Chromosome Location	chr8:100724661-100724662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100723862..100725678-chr8:100729093..100731491,2	MCF-7	breast:
2	chr8:100719725..100721462-chr8:100723554..100725582,2	K562	blood:
3	chr8:100719530..100723124-chr8:100724198..100728013,4	K562	blood:
4	chr8:100724026..100725621-chr8:100784325..100786772,2	K562	blood:
5	chr8:100715769..100720445-chr8:100721674..100725414,4	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10504990	0.88[EUR][1000 genomes]
rs10504991	0.88[EUR][1000 genomes]
rs10504992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11984855	0.82[EUR][1000 genomes]
rs11987013	0.88[EUR][1000 genomes]
rs11987034	0.88[EUR][1000 genomes]
rs11988133	0.88[EUR][1000 genomes]
rs11989649	0.85[EUR][1000 genomes]
rs11992778	0.88[EUR][1000 genomes]
rs11994623	0.88[EUR][1000 genomes]
rs11996543	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1349244	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1349245	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1449786	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449790	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1449791	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1552443	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs16897410	0.88[EUR][1000 genomes]
rs16897439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs16897488	0.88[EUR][1000 genomes]
rs16897504	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16897573	1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[ASN][1000 genomes]
rs16897581	0.92[ASN][1000 genomes]
rs16897656	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897662	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897666	1.00[EUR][1000 genomes]
rs16897685	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897701	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897702	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897726	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17331148	1.00[EUR][1000 genomes]
rs1979115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2067529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs2084554	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084555	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2100220	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122341	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167101	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28372694	0.82[EUR][1000 genomes]
rs2871953	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28847009	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4288349	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4342557	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4531021	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4734434	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4734435	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734439	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735616	0.88[EUR][1000 genomes]
rs4735622	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735623	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735624	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735631	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735632	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735633	0.92[ASN][1000 genomes]
rs4735634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735636	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735637	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735638	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735642	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735645	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56912854	0.94[AMR][1000 genomes]
rs57753543	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61753724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003135	0.97[EUR][1000 genomes]
rs73271394	0.94[EUR][1000 genomes]
rs73273207	0.97[EUR][1000 genomes]
rs7387462	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7832916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7833256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7833870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841162	0.82[EUR][1000 genomes]
rs921313	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4735635	PLAUR	trans	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100687000-100739800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:100699800-100731600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:100699800-100733200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:100700400-100733800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:100707600-100732400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:100708400-100725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:100710200-100739800	Weak transcription	Psoas Muscle	Psoas
8	chr8:100710200-100785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:100712800-100729400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:100713000-100732800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:100713000-100733200	Weak transcription	Left Ventricle	heart
12	chr8:100713200-100732800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:100713200-100746800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:100713400-100729400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:100715000-100725600	Weak transcription	HSMMtube	muscle
16	chr8:100715200-100727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:100715200-100737400	Weak transcription	Fetal Intestine Large	intestine
18	chr8:100716400-100739000	Weak transcription	Fetal Kidney	kidney
19	chr8:100716800-100726800	Weak transcription	Thymus	Thymus
20	chr8:100716800-100744400	Weak transcription	Aorta	Aorta
21	chr8:100717400-100736600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:100717600-100727000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:100718200-100733200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:100718600-100732600	Weak transcription	Ovary	ovary
25	chr8:100718800-100726600	Weak transcription	Primary T cells from cord blood	blood
26	chr8:100719200-100726800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:100719600-100726600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:100719600-100732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:100719600-100750600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:100720000-100737000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:100721600-100728200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:100721600-100729600	Weak transcription	Primary B cells from cord blood	blood
33	chr8:100722600-100725800	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:100724000-100724800	Enhancers	Placenta Amnion	Placenta Amnion

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