Variant report

Variant	rs733289
Chromosome Location	chr19:45600586-45600587
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr19:45599899-45602386	HEK293-T-REx	kidney:	n/a	chr19:45601397-45601406

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45600540-45600590	RPTEC	kidney:	n/a
2	chr19:45600540-45600590	AG09319	gingival:	n/a
3	chr19:45600540-45600590	HEK293	kidney:	embryo
4	chr19:45600540-45600590	HIPEpiC	eye:	n/a
5	chr19:45600540-45600590	HCT-116	colon:	n/a
6	chr19:45600540-45600590	GM06990	blood:	n/a
7	chr19:45600540-45600590	HAEpiC	amniotic membrane:	n/a
8	chr19:45600540-45600590	NHDF-neo	bronchial:	n/a
9	chr19:45600540-45600590	GM12891	blood:	n/a
10	chr19:45600540-45600590	T-47D	breast:	n/a
11	chr19:45600540-45600590	ovcar-3	ovarian:	n/a
12	chr19:45600540-45600590	HEEpiC	esophagus:	n/a
13	chr19:45600540-45600590	HRE	kidney:	n/a
14	chr19:45600540-45600590	NB4	blood:	n/a
15	chr19:45600540-45600590	A549	lung:	n/a
16	chr19:45600540-45600590	CMK	blood:	n/a
17	chr19:45600540-45600590	AG10803	skin:	n/a
18	chr19:45600540-45600590	GM12878	blood:	n/a
19	chr19:45600540-45600590	H1-hESC	embryonic stem cell:	embryo
20	chr19:45600540-45600590	Hela-S3	cervix:	n/a
21	chr19:45600540-45600590	SK-N-MC	brain:	n/a
22	chr19:45600540-45600590	PFSK-1	brain:	n/a
23	chr19:45600540-45600590	BJ	skin:	n/a
24	chr19:45600540-45600590	HRCEpiC	kidney:	n/a
25	chr19:45600540-45600590	SKMC	muscle:	n/a
26	chr19:45600540-45600590	HCM	heart:	n/a
27	chr19:45600540-45600590	AoSMC	blood vessel:	n/a
28	chr19:45600540-45600590	GM19239	blood:	n/a
29	chr19:45600540-45600590	NT2-D1	testis:	n/a
30	chr19:45600540-45600590	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:45600540-45600590	Jurkat	blood:	n/a
32	chr19:45600540-45600590	HUVEC	blood vessel:	n/a
33	chr19:45600540-45600590	ProgFib	skin:	n/a
34	chr19:45600540-45600590	AG09309	skin:	n/a
35	chr19:45600540-45600590	HepG2	liver:	n/a
36	chr19:45600540-45600590	K562	blood:	n/a
37	chr19:45600540-45600590	HCPEpiC	choroid plexus:	n/a
38	chr19:45600540-45600590	HRPEpiC	eye:	n/a
39	chr19:45600540-45600590	GM12892	blood:	n/a
40	chr19:45600540-45600590	ECC-1	luminal epithelium:	n/a
41	chr19:45600540-45600590	MCF-7	breast:	n/a
42	chr19:45600540-45600590	SK-N-SH_RA	brain:	n/a
43	chr19:45600540-45600590	PrEC	prostate:	n/a
44	chr19:45600540-45600590	HMEC	breast:	n/a
45	chr19:45600540-45600590	AG04450	lung:	fetal
46	chr19:45600540-45600590	AG04449	skin:	fetal
47	chr19:45600540-45600590	U87	brain:	n/a
48	chr19:45600540-45600590	MCF10A-Er-Src	breast:	n/a
49	chr19:45600540-45600590	LNCaP	prostate:	n/a
50	chr19:45600540-45600590	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:76844876..76847420-chr19:45599129..45600971,2	MCF-7	breast:
2	chr19:45572753..45574851-chr19:45600312..45603270,3	MCF-7	breast:
3	chr19:45600364..45603096-chr19:45634036..45635975,3	K562	blood:
4	chr19:45577259..45585589-chr19:45592358..45603656,27	K562	blood:
5	chr19:45599536..45601842-chr19:45680214..45683466,3	K562	blood:
6	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:
7	chr19:45600305..45602430-chr19:45642699..45644377,2	K562	blood:
8	chr19:45578126..45585691-chr19:45599620..45604032,8	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1R37	TF binding region
PPP1R37	CpG island
ENSG00000007047	Chromatin interaction
ENSG00000104859	Chromatin interaction
ENSG00000267545	Chromatin interaction
ENSG00000007255	Chromatin interaction
ENSG00000170684	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000142252	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10402479	0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs10403214	0.93[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405306	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10406911	1.00[ASN][1000 genomes]
rs10407374	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408366	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408462	1.00[ASN][1000 genomes]
rs10409138	0.92[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409232	0.91[CEU][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409727	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409903	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410424	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412988	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415674	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10417101	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417347	1.00[ASN][1000 genomes]
rs10417618	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419874	1.00[ASN][1000 genomes]
rs10419883	0.80[YRI][hapmap];0.81[AFR][1000 genomes]
rs10420717	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10420824	1.00[ASN][1000 genomes]
rs10421085	1.00[ASN][1000 genomes]
rs10421425	1.00[ASN][1000 genomes]
rs10421932	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs10422671	1.00[ASN][1000 genomes]
rs10423079	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10423555	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10424651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425380	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1076384	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12459386	1.00[ASN][1000 genomes]
rs12459402	1.00[ASN][1000 genomes]
rs12459945	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461416	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12461749	1.00[ASN][1000 genomes]
rs13344055	0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13344075	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13345307	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1541926	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979688	0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17562676	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17562787	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17642665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982077	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003183	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2003345	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2004356	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2011438	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041261	1.00[ASN][1000 genomes]
rs2041263	1.00[ASN][1000 genomes]
rs2043320	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2060252	1.00[ASN][1000 genomes]
rs2060253	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs28404390	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28657408	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28706378	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28719739	1.00[ASN][1000 genomes]
rs35904300	1.00[ASN][1000 genomes]
rs4427916	1.00[ASN][1000 genomes]
rs4608431	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56764148	0.81[AFR][1000 genomes]
rs58260098	1.00[ASN][1000 genomes]
rs58600209	1.00[ASN][1000 genomes]
rs58854055	1.00[ASN][1000 genomes]
rs58880456	1.00[ASN][1000 genomes]
rs59240271	1.00[ASN][1000 genomes]
rs60372869	1.00[ASN][1000 genomes]
rs60455813	1.00[ASN][1000 genomes]
rs61531804	1.00[ASN][1000 genomes]
rs7251651	1.00[ASN][1000 genomes]
rs7254138	1.00[ASN][1000 genomes]
rs7257566	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7257599	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259404	1.00[ASN][1000 genomes]
rs73562250	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562267	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562286	1.00[ASN][1000 genomes]
rs73939607	1.00[ASN][1000 genomes]
rs747646	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs747647	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs754364	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs754365	1.00[ASN][1000 genomes]
rs754367	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs8101046	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892133	1.00[ASN][1000 genomes]
rs9653111	1.00[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	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs733289	EIF5AP3	cis	lung	GTEx
rs733289	Hs.466924	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45597200-45600600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:45597400-45601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:45597400-45601200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:45597400-45601600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:45597400-45602200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:45597400-45602800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr19:45597400-45603000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr19:45597400-45603000	Enhancers	Fetal Brain Male	brain
9	chr19:45597400-45603200	Enhancers	Left Ventricle	heart
10	chr19:45597400-45604600	Enhancers	Placenta	Placenta
11	chr19:45597400-45609400	Enhancers	Stomach Mucosa	stomach
12	chr19:45597600-45601000	Enhancers	Brain Angular Gyrus	brain
13	chr19:45597600-45601200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr19:45597600-45602000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr19:45597600-45603000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr19:45597600-45603000	Enhancers	Lung	lung
17	chr19:45597600-45606200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:45597600-45609200	Enhancers	Pancreas	Pancrea
19	chr19:45597800-45600600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:45597800-45600800	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr19:45597800-45601000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr19:45597800-45601200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:45597800-45602000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr19:45597800-45602600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr19:45597800-45602800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr19:45597800-45603000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr19:45597800-45604000	Genic enhancers	Fetal Muscle Leg	muscle
28	chr19:45597800-45604200	Enhancers	Psoas Muscle	Psoas
29	chr19:45598000-45601200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:45598000-45604000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr19:45598200-45600800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:45598200-45601000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:45598200-45601000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr19:45598200-45601000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr19:45598200-45601200	Enhancers	Brain Cingulate Gyrus	brain
36	chr19:45598200-45601400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:45598200-45601400	Weak transcription	Fetal Kidney	kidney
38	chr19:45598200-45601800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:45598200-45604400	Enhancers	Gastric	stomach
40	chr19:45598200-45606000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr19:45598400-45600600	Enhancers	Stomach Smooth Muscle	stomach
42	chr19:45598400-45600800	Weak transcription	Fetal Lung	lung
43	chr19:45598400-45600800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:45598400-45601000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:45598400-45601000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:45598400-45601000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:45598400-45601000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:45598400-45601000	Enhancers	Duodenum Mucosa	Duodenum
49	chr19:45598400-45601000	Weak transcription	HSMMtube	muscle
50	chr19:45598400-45601200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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