Variant report

Variant	rs9843653
Chromosome Location	chr3:49920571-49920572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49920014..49922946-chr3:49924435..49926643,2	K562	blood:
2	chr3:49917501..49919424-chr3:49920193..49922389,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1062633	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11130224	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130226	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11130228	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11130229	0.82[ASN][1000 genomes]
rs11130233	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11130234	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11712056	0.82[ASN][1000 genomes]
rs11713193	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11713562	0.82[ASN][1000 genomes]
rs11925192	0.90[ASN][1000 genomes]
rs12485600	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12496973	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13060128	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1317154	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2230590	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252833	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2280406	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2353579	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2353586	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2353587	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2526751	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2624843	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2624844	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2681778	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2681780	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2681781	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2777888	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2883057	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34080578	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35065728	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36022378	0.81[ASN][1000 genomes]
rs3733134	0.81[AMR][1000 genomes]
rs3733135	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3774733	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3774758	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688689	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4688690	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4688755	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4688756	0.90[ASN][1000 genomes]
rs4688757	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4688758	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55751738	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62262093	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446187	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6446189	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6446193	0.82[ASN][1000 genomes]
rs6765484	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6767381	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6771546	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6772095	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6780731	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6792892	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6795703	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72942333	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7609971	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7613360	0.82[ASN][1000 genomes]
rs7613875	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7621026	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7621352	0.82[ASN][1000 genomes]
rs7628058	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7634084	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7635002	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9821433	0.92[ASN][1000 genomes]
rs9821675	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9848497	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9853222	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9861216	0.82[ASN][1000 genomes]
rs9862795	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9866695	0.82[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	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs9843653	RBM6	cis	Whole Blood	GTEx
rs9843653	RBM6	cis	Stomach	GTEx
rs9843653	RBM6	cis	lung	GTEx
rs9843653	RBM6	cis	Thyroid	GTEx
rs9843653	RBM6	cis	Heart Left Ventricle	GTEx
rs9843653	RBM6	cis	Skin Sun Exposed Lower leg	GTEx
rs9843653	RBM6	cis	Artery Aorta	GTEx
rs9843653	RBM6	cis	Esophagus Mucosa	GTEx
rs9843653	RBM6	cis	Adipose Subcutaneous	GTEx
rs9843653	RBM6	cis	Esophagus Muscularis	GTEx
rs9843653	RBM6	cis	Artery Tibial	GTEx
rs9843653	RBM6	cis	Nerve Tibial	GTEx
rs9843653	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49918800-49928400	Weak transcription	Colonic Mucosa	Colon
2	chr3:49919000-49924000	Weak transcription	Gastric	stomach
3	chr3:49919000-49924000	Weak transcription	Lung	lung
4	chr3:49919000-49924200	Weak transcription	Hela-S3	cervix
5	chr3:49919400-49924000	Weak transcription	K562	blood
6	chr3:49919400-49924200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:49919400-49928600	Weak transcription	Esophagus	oesophagus
8	chr3:49919600-49924000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:49919600-49924000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:49919600-49926400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:49919600-49933400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:49919600-49933400	Weak transcription	Stomach Mucosa	stomach
13	chr3:49919600-49937800	Weak transcription	Small Intestine	intestine
14	chr3:49919800-49924000	Weak transcription	NHEK	skin
15	chr3:49919800-49926600	Weak transcription	Spleen	Spleen
16	chr3:49919800-49933800	Weak transcription	Brain Angular Gyrus	brain
17	chr3:49920000-49920600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:49920000-49924000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:49920000-49924000	Weak transcription	Fetal Brain Female	brain
20	chr3:49920000-49926200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:49920000-49930200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:49920000-49943000	Weak transcription	Brain Anterior Caudate	brain
23	chr3:49920200-49920600	Enhancers	Fetal Muscle Leg	muscle
24	chr3:49920200-49921000	Weak transcription	Fetal Intestine Large	intestine
25	chr3:49920200-49921000	Weak transcription	Fetal Intestine Small	intestine
26	chr3:49920200-49924000	Weak transcription	Fetal Stomach	stomach
27	chr3:49920200-49924200	Weak transcription	Right Atrium	heart
28	chr3:49920200-49932600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:49920200-49932600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:49920200-49938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:49920400-49921000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:49920400-49921400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:49920400-49938200	Weak transcription	Left Ventricle	heart

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