Variant report

Variant	rs34103310
Chromosome Location	chr3:47073266-47073267
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	chr3:47072469..47075207-chr3:47077387..47079210,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10433549	0.81[EUR][1000 genomes]
rs10461018	0.86[EUR][1000 genomes]
rs1079276	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1108301	0.89[EUR][1000 genomes]
rs11130110	0.86[EUR][1000 genomes]
rs11130111	0.89[EUR][1000 genomes]
rs11130112	0.89[EUR][1000 genomes]
rs11130114	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130115	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11707736	0.86[EUR][1000 genomes]
rs11708451	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11709660	0.91[EUR][1000 genomes]
rs11712716	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11713693	0.81[EUR][1000 genomes]
rs11715121	0.91[EUR][1000 genomes]
rs11716539	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11716553	0.84[EUR][1000 genomes]
rs11718795	0.83[EUR][1000 genomes]
rs11719306	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11720139	0.82[EUR][1000 genomes]
rs11917361	0.89[EUR][1000 genomes]
rs11917474	0.89[EUR][1000 genomes]
rs12152493	0.88[EUR][1000 genomes]
rs12489211	0.82[EUR][1000 genomes]
rs12491473	0.86[EUR][1000 genomes]
rs12629262	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12630534	0.86[EUR][1000 genomes]
rs12635619	0.80[EUR][1000 genomes]
rs12715421	0.90[EUR][1000 genomes]
rs13061071	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13062022	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13062681	0.84[EUR][1000 genomes]
rs13066214	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13077398	0.89[EUR][1000 genomes]
rs13084117	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13087426	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13091054	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13094672	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13098228	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1463393	0.86[EUR][1000 genomes]
rs17784127	0.85[EUR][1000 genomes]
rs1869869	0.89[EUR][1000 genomes]
rs1869871	0.81[EUR][1000 genomes]
rs2061197	0.85[EUR][1000 genomes]
rs2278963	0.83[EUR][1000 genomes]
rs2305634	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305635	0.83[EUR][1000 genomes]
rs2305638	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2385867	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34344887	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4018905	0.81[EUR][1000 genomes]
rs4078466	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4082155	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4234465	0.89[EUR][1000 genomes]
rs4682831	0.89[EUR][1000 genomes]
rs4682837	0.86[EUR][1000 genomes]
rs4682844	0.85[EUR][1000 genomes]
rs4682852	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4683320	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4683322	0.89[EUR][1000 genomes]
rs55724164	0.85[EUR][1000 genomes]
rs55843455	0.88[EUR][1000 genomes]
rs55927279	0.82[EUR][1000 genomes]
rs56217494	0.81[EUR][1000 genomes]
rs56249396	0.89[EUR][1000 genomes]
rs61729713	0.89[EUR][1000 genomes]
rs62246375	0.88[EUR][1000 genomes]
rs62246398	0.89[EUR][1000 genomes]
rs62248439	0.86[EUR][1000 genomes]
rs6414435	0.89[EUR][1000 genomes]
rs6414436	0.83[EUR][1000 genomes]
rs6442055	0.89[EUR][1000 genomes]
rs66539935	0.89[EUR][1000 genomes]
rs66564457	0.88[EUR][1000 genomes]
rs6763236	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6767218	0.89[EUR][1000 genomes]
rs6768722	0.91[EUR][1000 genomes]
rs6772670	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6774733	0.86[EUR][1000 genomes]
rs6777145	0.89[EUR][1000 genomes]
rs6785790	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6794193	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6808742	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7373821	0.84[EUR][1000 genomes]
rs749511	0.83[EUR][1000 genomes]
rs7610620	0.87[EUR][1000 genomes]
rs7610636	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7615323	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7617689	0.86[EUR][1000 genomes]
rs7621911	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7625067	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7625070	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7628747	0.86[EUR][1000 genomes]
rs7633435	0.85[EUR][1000 genomes]
rs7633698	0.89[EUR][1000 genomes]
rs7636252	0.89[EUR][1000 genomes]
rs7637302	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7640397	0.86[EUR][1000 genomes]
rs9311403	0.81[EUR][1000 genomes]
rs9844122	0.90[EUR][1000 genomes]
rs9845728	0.90[EUR][1000 genomes]
rs9854790	0.89[EUR][1000 genomes]
rs9858443	0.90[EUR][1000 genomes]
rs9875235	0.91[EUR][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	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34103310	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs34103310	SETD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47060600-47073800	Weak transcription	Lung	lung
2	chr3:47061000-47076200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:47061000-47079000	Weak transcription	Fetal Brain Male	brain
4	chr3:47061200-47076000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:47061200-47083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:47061400-47073600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:47061400-47074600	Weak transcription	Hela-S3	cervix
8	chr3:47061400-47076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:47061400-47076200	Weak transcription	HSMMtube	muscle
10	chr3:47061800-47074200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:47061800-47074600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:47062000-47075400	Weak transcription	A549	lung
13	chr3:47062200-47073400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:47062200-47073400	Weak transcription	GM12878-XiMat	blood
15	chr3:47062200-47075000	Weak transcription	Brain Germinal Matrix	brain
16	chr3:47062200-47075400	Weak transcription	Aorta	Aorta
17	chr3:47062200-47076000	Weak transcription	Fetal Kidney	kidney
18	chr3:47062200-47077800	Weak transcription	Colonic Mucosa	Colon
19	chr3:47062400-47074800	Weak transcription	HUVEC	blood vessel
20	chr3:47062800-47075400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:47062800-47076400	Weak transcription	Fetal Brain Female	brain
22	chr3:47063200-47079000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:47064000-47073800	Weak transcription	Thymus	Thymus
24	chr3:47064400-47076600	Weak transcription	Psoas Muscle	Psoas
25	chr3:47064400-47079000	Weak transcription	Pancreas	Pancrea
26	chr3:47064400-47079000	Weak transcription	Right Ventricle	heart
27	chr3:47064600-47074200	Weak transcription	Adipose Nuclei	Adipose
28	chr3:47064600-47074600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:47064600-47074600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:47064600-47074800	Weak transcription	Ovary	ovary
31	chr3:47064600-47075400	Weak transcription	NHLF	lung
32	chr3:47064600-47076400	Weak transcription	Small Intestine	intestine
33	chr3:47064800-47076600	Weak transcription	Gastric	stomach
34	chr3:47065000-47077000	Weak transcription	Stomach Mucosa	stomach
35	chr3:47066800-47074600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:47066800-47074600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:47066800-47075600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:47066800-47075800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:47066800-47076000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:47066800-47076000	Weak transcription	NHDF-Ad	bronchial
41	chr3:47066800-47076600	Weak transcription	Esophagus	oesophagus
42	chr3:47066800-47079000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:47067000-47074600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:47067000-47074800	Weak transcription	Brain Angular Gyrus	brain
45	chr3:47067000-47075600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:47067000-47075800	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:47067000-47076200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr3:47067000-47076600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:47067200-47074600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:47067200-47074600	Weak transcription	Brain Hippocampus Middle	brain

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