Variant report

Variant	rs35375092
Chromosome Location	chr3:50065274-50065275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50060113..50061890-chr3:50064863..50067741,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1046956	1.00[ASN][1000 genomes]
rs13059311	1.00[ASN][1000 genomes]
rs13064381	1.00[ASN][1000 genomes]
rs13067082	1.00[ASN][1000 genomes]
rs13071931	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13091525	1.00[ASN][1000 genomes]
rs13095697	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097720	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14321	1.00[ASN][1000 genomes]
rs17225749	1.00[ASN][1000 genomes]
rs17304079	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799844	1.00[ASN][1000 genomes]
rs2014004	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2526384	1.00[ASN][1000 genomes]
rs2526387	1.00[ASN][1000 genomes]
rs2526397	1.00[ASN][1000 genomes]
rs2526398	1.00[ASN][1000 genomes]
rs2624833	1.00[ASN][1000 genomes]
rs2624841	1.00[ASN][1000 genomes]
rs35012435	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35129566	1.00[ASN][1000 genomes]
rs35491931	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849525	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55924524	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58339610	1.00[ASN][1000 genomes]
rs62260663	1.00[ASN][1000 genomes]
rs62260720	1.00[ASN][1000 genomes]
rs62260755	1.00[ASN][1000 genomes]
rs62262061	1.00[ASN][1000 genomes]
rs62262106	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262118	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262730	1.00[ASN][1000 genomes]
rs62263602	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787892	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804970	1.00[ASN][1000 genomes]
rs71326904	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71326915	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613603	1.00[ASN][1000 genomes]
rs7615318	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620848	1.00[ASN][1000 genomes]
rs7621797	1.00[ASN][1000 genomes]
rs7635601	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637711	1.00[ASN][1000 genomes]
rs7648652	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649428	1.00[ASN][1000 genomes]
rs9829155	1.00[ASN][1000 genomes]
rs9835157	1.00[ASN][1000 genomes]
rs9836756	1.00[ASN][1000 genomes]
rs9851651	1.00[ASN][1000 genomes]
rs9858297	1.00[ASN][1000 genomes]
rs9870755	1.00[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	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35375092	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs35375092	RBM6	cis	Artery Tibial	GTEx
rs35375092	RBM6	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49998000-50078200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:49998400-50078600	Weak transcription	K562	blood
3	chr3:50010800-50087000	Weak transcription	NHLF	lung
4	chr3:50011000-50078400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:50011000-50091600	Weak transcription	Colonic Mucosa	Colon
6	chr3:50015200-50092000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:50028800-50082600	Weak transcription	Right Ventricle	heart
8	chr3:50030200-50065600	Weak transcription	Fetal Heart	heart
9	chr3:50036600-50085600	Weak transcription	HUVEC	blood vessel
10	chr3:50037200-50087000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:50038400-50084600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:50038600-50087400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:50039400-50084600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:50041400-50095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:50041600-50085000	Weak transcription	Fetal Brain Female	brain
16	chr3:50041600-50085400	Weak transcription	Brain Angular Gyrus	brain
17	chr3:50041600-50093400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:50041800-50085200	Weak transcription	Fetal Brain Male	brain
19	chr3:50043400-50085200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:50045200-50085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:50046800-50065400	Weak transcription	Fetal Kidney	kidney
22	chr3:50046800-50085800	Weak transcription	HMEC	breast
23	chr3:50047200-50085200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:50047200-50085400	Weak transcription	Left Ventricle	heart
25	chr3:50047200-50092600	Weak transcription	Gastric	stomach
26	chr3:50047400-50085000	Weak transcription	Lung	lung
27	chr3:50048800-50085600	Weak transcription	A549	lung
28	chr3:50049800-50084000	Weak transcription	Brain Germinal Matrix	brain
29	chr3:50050600-50066000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:50051400-50084600	Weak transcription	Spleen	Spleen
31	chr3:50051600-50095200	Weak transcription	Pancreas	Pancrea
32	chr3:50051800-50085000	Weak transcription	Brain Anterior Caudate	brain
33	chr3:50051800-50085400	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:50052200-50084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:50052200-50087000	Weak transcription	NHDF-Ad	bronchial
36	chr3:50052400-50085600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:50053200-50065600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr3:50055600-50084200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:50055600-50085600	Weak transcription	Hela-S3	cervix
40	chr3:50056000-50066000	Strong transcription	Fetal Thymus	thymus
41	chr3:50056400-50114400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:50056800-50078400	Weak transcription	Ovary	ovary
43	chr3:50057000-50071600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:50057000-50073400	Weak transcription	Thymus	Thymus
45	chr3:50057000-50085400	Weak transcription	Fetal Lung	lung
46	chr3:50057200-50085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:50057200-50085400	Weak transcription	NHEK	skin
48	chr3:50057600-50065400	Weak transcription	Fetal Intestine Large	intestine
49	chr3:50058400-50065600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:50058400-50065600	Weak transcription	HSMM	muscle

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