Variant report

Variant	rs7636423
Chromosome Location	chr3:47309134-47309135
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:47308014-47309147	SK-N-SH	brain:	n/a	n/a
2	MAFK	chr3:47308230-47309301	K562	blood:	n/a	chr3:47309106-47309121
3	MAFK	chr3:47308978-47309290	H1-hESC	embryonic stem cell:	n/a	chr3:47309106-47309121
4	MAFF	chr3:47308932-47309295	HepG2	liver:	n/a	chr3:47309104-47309122
5	JUN	chr3:47307945-47309326	K562	blood:	n/a	chr3:47308379-47308387 chr3:47308378-47308388 chr3:47308380-47308387 chr3:47308375-47308386
6	MAFK	chr3:47308926-47309300	IMR90	lung:	n/a	chr3:47309106-47309121
7	MAFK	chr3:47308934-47309290	HepG2	liver:	n/a	chr3:47309106-47309121
8	MAFK	chr3:47308801-47309421	GM12878	blood:	n/a	chr3:47309106-47309121
9	MAFK	chr3:47308931-47309302	HepG2	liver:	n/a	chr3:47309106-47309121
10	MAFK	chr3:47308946-47309273	Hela-S3	cervix:	n/a	chr3:47309106-47309121
11	MAFF	chr3:47308857-47309295	K562	blood:	n/a	chr3:47309104-47309122

No.	Distal block	Cell Line	Cell type
1	chr3:47308251..47310549-chr3:47311430..47313060,2	K562	blood:
2	chr3:47308967..47310728-chr3:47443375..47445366,2	K562	blood:
3	chr3:47308470..47309990-chr3:47311711..47314511,2	K562	blood:
4	chr3:47308250..47310390-chr3:47316746..47318769,2	MCF-7	breast:
5	chr3:47308440..47310192-chr3:47315803..47317741,2	K562	blood:

Variant related genes	Relation type
KIF9	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1076394	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130123	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130124	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130126	0.90[EUR][1000 genomes]
rs11710013	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11710322	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11714294	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11915074	0.90[EUR][1000 genomes]
rs11920853	0.90[EUR][1000 genomes]
rs11921117	0.89[EUR][1000 genomes]
rs13072802	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13094438	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1638676	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17476234	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2088135	0.80[EUR][1000 genomes]
rs2132173	0.80[ASN][1000 genomes]
rs2276853	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276854	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs295441	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295442	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683324	0.80[ASN][1000 genomes]
rs4683326	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56250009	0.80[EUR][1000 genomes]
rs59689369	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6768221	0.90[EUR][1000 genomes]
rs6791842	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7632501	0.80[EUR][1000 genomes]
rs807932	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs807935	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs807936	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs807937	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs811115	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7636423	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs7636423	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47264200-47322200	Weak transcription	Gastric	stomach
2	chr3:47282800-47322400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:47285400-47315800	Weak transcription	Pancreas	Pancrea
4	chr3:47285600-47312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:47293600-47323200	Weak transcription	Spleen	Spleen
6	chr3:47300800-47322800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:47301000-47322800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:47301200-47323000	Weak transcription	Psoas Muscle	Psoas
9	chr3:47302600-47314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:47302600-47322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:47302800-47323200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:47305600-47323200	Weak transcription	Primary T cells from cord blood	blood
13	chr3:47305800-47315000	Weak transcription	Fetal Intestine Small	intestine
14	chr3:47306800-47309200	Enhancers	HSMMtube	muscle
15	chr3:47306800-47310000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:47307000-47314800	Weak transcription	Lung	lung
17	chr3:47307200-47309200	Enhancers	Fetal Heart	heart
18	chr3:47307200-47309200	Enhancers	NHLF	lung
19	chr3:47307200-47309800	Enhancers	Dnd41	blood
20	chr3:47307200-47310800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:47307800-47311000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:47308000-47309200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:47308200-47314400	Weak transcription	Right Ventricle	heart
24	chr3:47308400-47314800	Weak transcription	Fetal Stomach	stomach
25	chr3:47308600-47315400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:47308600-47322200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:47308600-47322400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:47308600-47323000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:47308600-47323200	Weak transcription	Esophagus	oesophagus
30	chr3:47308800-47309200	Enhancers	K562	blood
31	chr3:47308800-47310400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:47308800-47311800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:47308800-47314600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:47308800-47316400	Weak transcription	Left Ventricle	heart
35	chr3:47308800-47318000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:47308800-47322200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:47308800-47322200	Weak transcription	Hela-S3	cervix
38	chr3:47308800-47322200	Weak transcription	HepG2	liver
39	chr3:47308800-47322200	Weak transcription	NHEK	skin
40	chr3:47308800-47322400	Weak transcription	A549	lung
41	chr3:47308800-47322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:47308800-47322600	Weak transcription	Brain Anterior Caudate	brain
43	chr3:47308800-47322600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:47308800-47322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:47308800-47322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:47308800-47323000	Weak transcription	Adipose Nuclei	Adipose
47	chr3:47308800-47323000	Weak transcription	Brain Substantia Nigra	brain
48	chr3:47309000-47310600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:47309000-47314800	Weak transcription	Fetal Muscle Leg	muscle
50	chr3:47309000-47316000	Weak transcription	Primary hematopoietic stem cells	blood

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