Variant report

Variant	rs73216228
Chromosome Location	chr5:112042929-112042930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr5:112042814-112043876	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr5:112042817-112043690	K562	blood:	n/a	n/a
3	SMC3	chr5:112042896-112043635	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:112042866-112043913	GM18951	blood:	n/a	n/a
5	POLR2A	chr5:112042822-112044212	H1-hESC	embryonic stem cell:	n/a	n/a
6	ELF1	chr5:112042909-112043958	GM12878	blood:	n/a	chr5:112043634-112043646
7	POLR2A	chr5:112042849-112043614	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr5:112042913-112043119	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr5:112042875-112043630	GM12878	blood:	n/a	n/a
10	TAF1	chr5:112042824-112043966	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr5:112042383-112044118	GM12891	blood:	n/a	n/a
12	SP4	chr5:112042893-112043499	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr5:112042866-112044045	SK-N-SH_RA	brain:	n/a	n/a
14	YY1	chr5:112042929-112043455	K562	blood:	n/a	n/a
15	BHLHE40	chr5:112042847-112043487	GM12878	blood:	n/a	n/a
16	MAZ	chr5:112042889-112044215	K562	blood:	n/a	n/a
17	TBP	chr5:112042896-112043883	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBL1XR1	chr5:112042856-112043556	K562	blood:	n/a	n/a
19	POLR2A	chr5:112042714-112043882	K562	blood:	n/a	n/a
20	POLR2A	chr5:112042769-112043588	GM12892	blood:	n/a	n/a
21	POLR2A	chr5:112042826-112043746	ProgFib	skin:	n/a	n/a
22	POLR2A	chr5:112042565-112043520	HCT-116	colon:	n/a	n/a
23	POLR2A	chr5:112042817-112043715	A549	lung:	n/a	n/a
24	TBL1XR1	chr5:112042744-112043396	K562	blood:	n/a	n/a
25	HCFC1	chr5:112042323-112044062	Hela-S3	cervix:	n/a	n/a
26	TAF1	chr5:112042891-112043521	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:112042711-112043642	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr5:112042876-112043823	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:112042835-112043454	SK-N-SH	brain:	n/a	n/a
30	YY1	chr5:112042866-112043858	SK-N-SH	brain:	n/a	n/a
31	YY1	chr5:112042898-112043708	H1-hESC	embryonic stem cell:	n/a	n/a
32	PML	chr5:112042764-112043580	K562	blood:	n/a	chr5:112043023-112043031
33	POLR2A	chr5:112042626-112043693	HUVEC	blood vessel:	n/a	n/a
34	REST	chr5:112042873-112043372	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr5:112042879-112043657	GM12878	blood:	n/a	n/a
36	POU2F2	chr5:112042912-112043477	GM12878	blood:	n/a	n/a
37	REST	chr5:112042914-112043597	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr5:112042842-112043961	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr5:112042861-112043770	Hela-S3	cervix:	n/a	n/a
40	REST	chr5:112042921-112043691	HepG2	liver:	n/a	n/a
41	CBX3	chr5:112042774-112043697	K562	blood:	n/a	n/a
42	MAX	chr5:112042821-112043861	MCF-7	breast:	n/a	n/a
43	MAX	chr5:112042899-112043715	GM12878	blood:	n/a	n/a
44	PML	chr5:112042920-112043654	MCF-7	breast:	n/a	chr5:112043023-112043031
45	MAX	chr5:112042727-112043924	ECC-1	luminal epithelium:	n/a	n/a
46	TBL1XR1	chr5:112042875-112043568	GM12878	blood:	n/a	n/a
47	REST	chr5:112042865-112043664	PFSK-1	brain:	n/a	n/a
48	RELA	chr5:112042892-112043471	GM19099	blood:	n/a	n/a
49	ZKSCAN1	chr5:112042923-112043633	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr5:112042793-112043778	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:112042919-112042969	SK-N-SH_RA	brain:	n/a
2	chr5:112042919-112042969	NHBE	bronchial:	n/a
3	chr5:112042919-112042969	HUVEC	blood vessel:	n/a
4	chr5:112042919-112042969	AG04449	skin:	fetal
5	chr5:112042919-112042969	PANC-1	pancreas:	n/a
6	chr5:112042919-112042969	NH-A	brain:	n/a
7	chr5:112042919-112042969	HAEpiC	amniotic membrane:	n/a
8	chr5:112042919-112042969	GM19239	blood:	n/a
9	chr5:112042919-112042969	AoSMC	blood vessel:	n/a
10	chr5:112042919-112042969	Hepatocyte	liver:	n/a
11	chr5:112042919-112042969	Jurkat	blood:	n/a
12	chr5:112042919-112042969	T-47D	breast:	n/a
13	chr5:112042919-112042969	MCF10A-Er-Src	breast:	n/a
14	chr5:112042919-112042969	BJ	skin:	n/a
15	chr5:112042919-112042969	MCF-7	breast:	n/a
16	chr5:112042919-112042969	GM12891	blood:	n/a
17	chr5:112042919-112042969	HCM	heart:	n/a
18	chr5:112042919-112042969	HRE	kidney:	n/a
19	chr5:112042919-112042969	HNPCEpiC	eye:	n/a
20	chr5:112042919-112042969	K562	blood:	n/a
21	chr5:112042919-112042969	NT2-D1	testis:	n/a
22	chr5:112042919-112042969	RPTEC	kidney:	n/a
23	chr5:112042919-112042969	GM12878	blood:	n/a
24	chr5:112042919-112042969	HCF	heart:	n/a
25	chr5:112042919-112042969	HL-60	blood:	n/a
26	chr5:112042919-112042969	AG09319	gingival:	n/a
27	chr5:112042919-112042969	A549	lung:	n/a
28	chr5:112042919-112042969	H1-hESC	embryonic stem cell:	embryo
29	chr5:112042919-112042969	Caco-2	colon:	n/a
30	chr5:112042919-112042969	SK-N-MC	brain:	n/a
31	chr5:112042919-112042969	HEK293	kidney:	embryo
32	chr5:112042919-112042969	GM06990	blood:	n/a
33	chr5:112042919-112042969	AG10803	skin:	n/a
34	chr5:112042919-112042969	ECC-1	luminal epithelium:	n/a
35	chr5:112042919-112042969	NHDF-neo	bronchial:	n/a
36	chr5:112042919-112042969	SK-N-SH	brain:	n/a
37	chr5:112042919-112042969	HCPEpiC	choroid plexus:	n/a
38	chr5:112042919-112042969	NB4	blood:	n/a
39	chr5:112042919-112042969	AG09309	skin:	n/a
40	chr5:112042919-112042969	HMEC	breast:	n/a
41	chr5:112042919-112042969	PrEC	prostate:	n/a
42	chr5:112042919-112042969	HRCEpiC	kidney:	n/a
43	chr5:112042919-112042969	HEEpiC	esophagus:	n/a
44	chr5:112042919-112042969	HCT-116	colon:	n/a
45	chr5:112042919-112042969	AG04450	lung:	fetal
46	chr5:112042919-112042969	U87	brain:	n/a
47	chr5:112042919-112042969	ovcar-3	ovarian:	n/a
48	chr5:112042919-112042969	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:112042919-112042969	HIPEpiC	eye:	n/a
50	chr5:112042919-112042969	SKMC	muscle:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:111881836..111883481-chr5:112041986..112044748,2	K562	blood:
2	chr5:112041940..112044616-chr5:112073343..112075090,3	MCF-7	breast:
3	chr5:112041577..112049243-chr5:112069735..112074802,8	K562	blood:
4	chr5:112041706..112044186-chr5:112195413..112197519,3	MCF-7	breast:
5	chr11:62608958..62609557-chr5:112042570..112043291,2	HCT-116	colon:
6	chr5:112041853..112044653-chr5:112197378..112199089,2	K562	blood:
7	chr5:112042397..112044645-chr5:112071738..112074273,3	MCF-7	breast:
8	chr17:43212795..43213555-chr5:112042871..112043439,2	Hela-S3	cervix:
9	chr5:112041486..112046402-chr5:112068342..112076365,12	K562	blood:

No data

Variant related genes	Relation type
APC	TF binding region
APC	CpG island
ENSG00000251014	Chromatin interaction
ENSG00000181513	Chromatin interaction
ENSG00000134982	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000272869	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11951746	1.00[AMR][1000 genomes]
rs17134881	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135094	1.00[AMR][1000 genomes]
rs55838903	1.00[AMR][1000 genomes]
rs56004167	1.00[AMR][1000 genomes]
rs56044723	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56224801	1.00[AMR][1000 genomes]
rs57076790	1.00[AMR][1000 genomes]
rs57186392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58659317	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58929329	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60959200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61667491	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866838	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6875646	1.00[AMR][1000 genomes]
rs6876184	1.00[AMR][1000 genomes]
rs6895431	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214389	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214398	0.81[AFR][1000 genomes]
rs73214399	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216208	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216212	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216237	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216295	1.00[AMR][1000 genomes]
rs73216300	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218128	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218131	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218137	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218139	1.00[AMR][1000 genomes]
rs73218152	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220040	1.00[AMR][1000 genomes]
rs73220042	1.00[AMR][1000 genomes]
rs73220045	1.00[AMR][1000 genomes]
rs73220047	1.00[AMR][1000 genomes]
rs73788579	1.00[AMR][1000 genomes]
rs73791429	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791483	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728636	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112041800-112043000	Flanking Active TSS	HepG2	liver
2	chr5:112042200-112043000	Flanking Active TSS	K562	blood
3	chr5:112042400-112043000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:112042400-112043000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:112042400-112043000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr5:112042400-112043000	Flanking Active TSS	A549	lung
7	chr5:112042400-112043200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr5:112042600-112043000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:112042600-112043000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr5:112042600-112043000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:112042600-112043000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr5:112042600-112043000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr5:112042600-112043000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr5:112042600-112043000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:112042600-112043000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:112042600-112043000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:112042600-112043000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr5:112042600-112043000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr5:112042600-112043000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr5:112042600-112043000	Enhancers	HSMM	muscle
21	chr5:112042600-112043000	Flanking Active TSS	Osteobl	bone
22	chr5:112042600-112043200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:112042600-112043200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr5:112042600-112043200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:112042600-112043200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:112042600-112043200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr5:112042600-112043200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr5:112042600-112043200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr5:112042600-112043200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr5:112042600-112043200	Flanking Active TSS	NHEK	skin
31	chr5:112042600-112043400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:112042600-112044200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:112042600-112044200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:112042600-112044200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:112042600-112044400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:112042600-112044400	Active TSS	Brain Substantia Nigra	brain
37	chr5:112042600-112044800	Active TSS	Psoas Muscle	Psoas
38	chr5:112042600-112045200	Active TSS	Ovary	ovary
39	chr5:112042600-112046200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:112042800-112043000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr5:112042800-112043000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:112042800-112043000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:112042800-112043000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:112042800-112043000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr5:112042800-112043000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr5:112042800-112043000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:112042800-112043000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr5:112042800-112043000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:112042800-112043000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:112042800-112043000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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