Variant report

Variant	rs7373821
Chromosome Location	chr3:47080127-47080128
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47068198..47069925-chr3:47079015..47080516,2	K562	blood:
2	chr3:47074366..47076191-chr3:47079494..47081958,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10433549	0.84[EUR][1000 genomes]
rs11707736	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11709660	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11713693	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11715121	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11719738	0.83[ASN][1000 genomes]
rs11720139	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11917361	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11923706	0.83[ASN][1000 genomes]
rs12493425	0.85[ASN][1000 genomes]
rs12715421	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13062681	0.80[EUR][1000 genomes]
rs17784127	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2278963	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2305635	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34103310	0.84[EUR][1000 genomes]
rs4018905	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4082155	0.80[EUR][1000 genomes]
rs4683322	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55724164	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55927279	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56217494	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56249396	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62246398	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6414435	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6414436	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6442055	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6442059	0.85[ASN][1000 genomes]
rs6763236	0.82[EUR][1000 genomes]
rs6766230	0.83[ASN][1000 genomes]
rs6767218	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6767907	0.85[ASN][1000 genomes]
rs6768722	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6777145	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6791062	0.85[ASN][1000 genomes]
rs6794193	0.80[EUR][1000 genomes]
rs7426969	0.80[EUR][1000 genomes]
rs7433300	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs749511	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs749512	0.81[ASN][1000 genomes]
rs7610620	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7623888	0.85[ASN][1000 genomes]
rs7625067	0.82[EUR][1000 genomes]
rs7625070	0.82[EUR][1000 genomes]
rs7633435	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7637302	0.81[EUR][1000 genomes]
rs9311403	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9812878	0.85[ASN][1000 genomes]
rs9818382	0.83[ASN][1000 genomes]
rs9821119	0.82[ASN][1000 genomes]
rs9837343	0.85[ASN][1000 genomes]
rs9844122	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9845728	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9854790	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9858443	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9875235	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[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	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
rs7373821	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs7373821	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47061200-47083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:47069600-47088200	Strong transcription	Liver	Liver
3	chr3:47069600-47088200	Strong transcription	Fetal Intestine Large	intestine
4	chr3:47069600-47089000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:47069800-47086600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:47070200-47080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:47070400-47089000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:47073400-47087600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:47073600-47087800	Strong transcription	Fetal Muscle Leg	muscle
10	chr3:47073600-47088200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:47073800-47082800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:47073800-47083200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:47073800-47088200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:47074000-47080400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:47074000-47081600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:47074200-47080400	Strong transcription	Adipose Nuclei	Adipose
17	chr3:47074200-47086600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:47074200-47086800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:47074400-47088600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr3:47074600-47080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:47074600-47084200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr3:47074600-47084400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr3:47074600-47085400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:47074600-47086600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:47074600-47088200	Strong transcription	NH-A	brain
26	chr3:47074600-47088400	Strong transcription	Placenta	Placenta
27	chr3:47074800-47088800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:47075400-47088200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:47075600-47088200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:47075800-47085000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:47075800-47086600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:47076000-47084200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:47076000-47085000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:47076200-47080400	Strong transcription	HSMMtube	muscle
35	chr3:47076200-47081000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr3:47077000-47080400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:47077000-47084200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr3:47077400-47080200	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:47077800-47080600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr3:47078000-47130600	Weak transcription	Stomach Mucosa	stomach
41	chr3:47078200-47080400	Strong transcription	K562	blood
42	chr3:47078200-47081600	Weak transcription	Esophagus	oesophagus
43	chr3:47078200-47081600	Weak transcription	Gastric	stomach
44	chr3:47078200-47082000	Weak transcription	Colonic Mucosa	Colon
45	chr3:47078200-47084200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:47078400-47080600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr3:47078400-47085800	Strong transcription	Fetal Stomach	stomach
48	chr3:47078600-47080400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr3:47078600-47080400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:47078600-47080600	Strong transcription	HepG2	liver

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