Variant report

Variant	rs4450808
Chromosome Location	chr3:50607798-50607799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:50607721-50609802	K562	blood:	n/a	n/a
2	EGR1	chr3:50606110-50607850	HCT-116	colon:	n/a	chr3:50606975-50606990 chr3:50606520-50606542 chr3:50606605-50606615 chr3:50606605-50606616 chr3:50606522-50606536 chr3:50606605-50606615

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50607787-50607837	HCF	heart:	n/a
2	chr3:50607787-50607837	CMK	blood:	n/a
3	chr3:50607787-50607837	GM12892	blood:	n/a
4	chr3:50607787-50607837	NH-A	brain:	n/a
5	chr3:50607787-50607837	HL-60	blood:	n/a
6	chr3:50607787-50607837	MCF10A-Er-Src	breast:	n/a
7	chr3:50607787-50607837	SK-N-SH_RA	brain:	n/a
8	chr3:50607787-50607837	ProgFib	skin:	n/a
9	chr3:50607787-50607837	HEEpiC	esophagus:	n/a
10	chr3:50607787-50607837	HRE	kidney:	n/a
11	chr3:50607787-50607837	ovcar-3	ovarian:	n/a
12	chr3:50607787-50607837	SAEC	small airway:	n/a
13	chr3:50607787-50607837	NHDF-neo	bronchial:	n/a
14	chr3:50607787-50607837	IMR90	lung:	fetal
15	chr3:50607787-50607837	NHBE	bronchial:	n/a
16	chr3:50607787-50607837	U87	brain:	n/a
17	chr3:50607787-50607837	GM06990	blood:	n/a
18	chr3:50607787-50607837	MCF-7	breast:	n/a
19	chr3:50607787-50607837	BE2_C	brain:	n/a
20	chr3:50607787-50607837	PFSK-1	brain:	n/a
21	chr3:50607787-50607837	GM19239	blood:	n/a
22	chr3:50607787-50607837	HPAEpiC	pulmonary alveolar:	n/a
23	chr3:50607787-50607837	HepG2	liver:	n/a
24	chr3:50607787-50607837	HUVEC	blood vessel:	n/a
25	chr3:50607787-50607837	A549	lung:	n/a
26	chr3:50607787-50607837	HCPEpiC	choroid plexus:	n/a
27	chr3:50607787-50607837	HMEC	breast:	n/a
28	chr3:50607787-50607837	ECC-1	luminal epithelium:	n/a
29	chr3:50607787-50607837	HCM	heart:	n/a
30	chr3:50607787-50607837	HIPEpiC	eye:	n/a
31	chr3:50607787-50607837	HNPCEpiC	eye:	n/a
32	chr3:50607787-50607837	AG09309	skin:	n/a
33	chr3:50607787-50607837	T-47D	breast:	n/a
34	chr3:50607787-50607837	GM12878	blood:	n/a
35	chr3:50607787-50607837	HEK293	kidney:	embryo
36	chr3:50607787-50607837	AoSMC	blood vessel:	n/a
37	chr3:50607787-50607837	Hepatocyte	liver:	n/a
38	chr3:50607787-50607837	GM12891	blood:	n/a
39	chr3:50607787-50607837	H1-hESC	embryonic stem cell:	embryo
40	chr3:50607787-50607837	PrEC	prostate:	n/a
41	chr3:50607787-50607837	PANC-1	pancreas:	n/a
42	chr3:50607787-50607837	Jurkat	blood:	n/a
43	chr3:50607787-50607837	LNCaP	prostate:	n/a
44	chr3:50607787-50607837	AG04450	lung:	fetal
45	chr3:50607787-50607837	NT2-D1	testis:	n/a
46	chr3:50607787-50607837	AG04449	skin:	fetal
47	chr3:50607787-50607837	BJ	skin:	n/a
48	chr3:50607787-50607837	HCT-116	colon:	n/a
49	chr3:50607787-50607837	AG10803	skin:	n/a
50	chr3:50607787-50607837	Caco-2	colon:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50606526..50611586-chr3:50612274..50616724,6	MCF-7	breast:
2	chr3:50375263..50377501-chr3:50606436..50608027,2	K562	blood:
3	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
4	chr3:50607017..50612379-chr3:51423330..51426962,5	MCF-7	breast:
5	chr3:50603678..50606532-chr3:50606738..50608762,2	K562	blood:
6	chr3:50607067..50609858-chr3:50721017..50723839,2	K562	blood:
7	chr3:50601756..50613871-chr3:50647072..50654542,28	K562	blood:
8	chr3:50603678..50606671-chr3:50607262..50609999,2	K562	blood:

No data

Variant related genes	Relation type
C3orf18	TF binding region
C3orf18	CpG island
ENSG00000088543	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000228337	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000114737	Chromatin interaction
ENSG00000145050	Chromatin interaction
ENSG00000114735	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1208923	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs636168	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940706	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription 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	104 gene(s)	inside rSNPs	diseases
4	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4450808	HEMK1	cis	multi-tissue	Pritchard
rs4450808	MAPKAPK3	cis	lymphoblastoid	seeQTL
rs4450808	HEMK1	cis	lymphoblastoid	seeQTL
rs4450808	HEMK	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50604200-50608400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr3:50604400-50608000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:50604600-50607800	Active TSS	Aorta	Aorta
4	chr3:50604600-50607800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:50604600-50607800	Active TSS	Psoas Muscle	Psoas
6	chr3:50604600-50608000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:50604600-50608000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:50604800-50607800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr3:50604800-50607800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr3:50604800-50607800	Active TSS	Ovary	ovary
11	chr3:50605000-50607800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50605000-50607800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr3:50605000-50608000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr3:50605000-50608200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr3:50605000-50608200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr3:50605200-50607800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr3:50605600-50607800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:50605600-50608200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr3:50605800-50607800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:50605800-50607800	Active TSS	Right Ventricle	heart
21	chr3:50605800-50608000	Active TSS	A549	lung
22	chr3:50606000-50607800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:50606000-50607800	Active TSS	K562	blood
24	chr3:50606000-50608000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr3:50606200-50607800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr3:50606200-50608000	Active TSS	H1 Cell Line	embryonic stem cell
27	chr3:50606400-50607800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:50606400-50607800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:50606400-50607800	Active TSS	NHDF-Ad	bronchial
30	chr3:50606400-50608000	Active TSS	NH-A	brain
31	chr3:50606600-50607800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:50606600-50607800	Active TSS	Fetal Muscle Trunk	muscle
33	chr3:50606800-50608000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr3:50607000-50607800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr3:50607000-50608000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr3:50607000-50608000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr3:50607200-50607800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr3:50607200-50607800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr3:50607200-50607800	Flanking Active TSS	Liver	Liver
40	chr3:50607200-50608000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr3:50607200-50608200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:50607400-50607800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:50607400-50607800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr3:50607400-50607800	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr3:50607400-50607800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr3:50607400-50607800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:50607400-50607800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr3:50607400-50607800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr3:50607400-50607800	Flanking Active TSS	Placenta	Placenta
50	chr3:50607400-50607800	Flanking Active TSS	Fetal Thymus	thymus

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