Variant report

Variant	rs72717643
Chromosome Location	chr1:174844535-174844536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:174844499-174844707	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFIC	chr1:174844308-174844843	ECC-1	luminal epithelium:	n/a	n/a
3	TBP	chr1:174844363-174844925	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOSL1	chr1:174844454-174844965	HCT-116	colon:	n/a	chr1:174844918-174844929
5	ZNF143	chr1:174844412-174844770	H1-hESC	embryonic stem cell:	n/a	chr1:174844604-174844619 chr1:174844603-174844622 chr1:174844530-174844545
6	POLR2A	chr1:174844422-174844757	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr1:174844520-174844781	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA1	chr1:174844459-174844727	T-47D	breast:	n/a	n/a
9	CTCF	chr1:174844500-174844650	HRE	kidney:	n/a	n/a
10	JUND	chr1:174844383-174844979	HCT-116	colon:	n/a	chr1:174844918-174844929
11	STAT3	chr1:174844441-174844767	MCF10A-Er-Src	breast:	n/a	chr1:174844515-174844538
12	ZNF143	chr1:174844495-174844776	K562	blood:	n/a	chr1:174844604-174844619 chr1:174844603-174844622 chr1:174844530-174844545
13	MYC	chr1:174844443-174844767	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr1:174844520-174844670	GM12873	blood:	n/a	n/a
15	RUNX3	chr1:174844340-174844887	GM12878	blood:	n/a	n/a
16	ZNF143	chr1:174844422-174844766	GM12878	blood:	n/a	chr1:174844604-174844619 chr1:174844603-174844622 chr1:174844530-174844545
17	CHD1	chr1:174843481-174845792	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:174844342-174844761	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOS	chr1:174844510-174844851	MCF10A-Er-Src	breast:	n/a	n/a
20	TAF1	chr1:174844422-174844768	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOS	chr1:174844504-174844872	MCF10A-Er-Src	breast:	n/a	n/a
22	SIN3AK20	chr1:174844435-174844803	H1-hESC	embryonic stem cell:	n/a	n/a
23	EBF1	chr1:174844410-174844717	GM12878	blood:	n/a	n/a
24	RUNX3	chr1:174844310-174844743	GM12878	blood:	n/a	n/a
25	FOS	chr1:174844497-174844851	MCF10A-Er-Src	breast:	n/a	n/a
26	SIN3A	chr1:174843321-174845223	H1-hESC	embryonic stem cell:	n/a	chr1:174844422-174844430
27	POLR2A	chr1:174844352-174844846	ECC-1	luminal epithelium:	n/a	n/a
28	FOXA1	chr1:174844369-174844717	T-47D	breast:	n/a	n/a
29	ZEB1	chr1:174844438-174844689	GM12878	blood:	n/a	n/a
30	EP300	chr1:174844388-174844994	ECC-1	luminal epithelium:	n/a	n/a
31	NFIC	chr1:174844240-174844895	ECC-1	luminal epithelium:	n/a	n/a
32	GTF2F1	chr1:174844446-174844660	H1-hESC	embryonic stem cell:	n/a	n/a
33	FOS	chr1:174844519-174844811	MCF10A-Er-Src	breast:	n/a	n/a
34	TCF12	chr1:174844479-174844737	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr1:174844377-174844874	H1-hESC	embryonic stem cell:	n/a	n/a
36	CBX3	chr1:174844461-174844938	HCT-116	colon:	n/a	n/a
37	POLR2A	chr1:174844465-174844725	H1-hESC	embryonic stem cell:	n/a	n/a
38	STAT3	chr1:174844512-174844740	MCF10A-Er-Src	breast:	n/a	chr1:174844515-174844538
39	MAX	chr1:174844388-174844856	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:174844422-174844717	ECC-1	luminal epithelium:	n/a	n/a
41	EBF1	chr1:174844446-174844782	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:174844403-174844705	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr1:174844493-174844842	MCF10A-Er-Src	breast:	n/a	n/a
44	NFIC	chr1:174842929-174844751	GM12878	blood:	n/a	n/a
45	TAF1	chr1:174844455-174844766	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:174844490-174844540	T-47D	breast:	n/a
2	chr1:174844490-174844540	PFSK-1	brain:	n/a
3	chr1:174844490-174844540	Jurkat	blood:	n/a
4	chr1:174844490-174844540	HUVEC	blood vessel:	n/a
5	chr1:174844490-174844540	SKMC	muscle:	n/a
6	chr1:174844490-174844540	Caco-2	colon:	n/a
7	chr1:174844490-174844540	GM12891	blood:	n/a
8	chr1:174844490-174844540	HNPCEpiC	eye:	n/a
9	chr1:174844490-174844540	H1-hESC	embryonic stem cell:	embryo
10	chr1:174844490-174844540	U87	brain:	n/a
11	chr1:174844490-174844540	GM12878	blood:	n/a
12	chr1:174844490-174844540	SK-N-SH_RA	brain:	n/a
13	chr1:174844490-174844540	ovcar-3	ovarian:	n/a
14	chr1:174844490-174844540	HRE	kidney:	n/a
15	chr1:174844490-174844540	CMK	blood:	n/a
16	chr1:174844490-174844540	AG04450	lung:	fetal
17	chr1:174844490-174844540	AG09309	skin:	n/a
18	chr1:174844490-174844540	HepG2	liver:	n/a
19	chr1:174844490-174844540	Hepatocyte	liver:	n/a
20	chr1:174844490-174844540	HAEpiC	amniotic membrane:	n/a
21	chr1:174844490-174844540	NHBE	bronchial:	n/a
22	chr1:174844490-174844540	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:174844490-174844540	A549	lung:	n/a
24	chr1:174844490-174844540	MCF10A-Er-Src	breast:	n/a
25	chr1:174844490-174844540	NB4	blood:	n/a
26	chr1:174844490-174844540	PrEC	prostate:	n/a
27	chr1:174844490-174844540	HEK293	kidney:	embryo
28	chr1:174844490-174844540	SK-N-MC	brain:	n/a
29	chr1:174844490-174844540	AG10803	skin:	n/a
30	chr1:174844490-174844540	BJ	skin:	n/a
31	chr1:174844490-174844540	HIPEpiC	eye:	n/a
32	chr1:174844490-174844540	LNCaP	prostate:	n/a
33	chr1:174844490-174844540	PANC-1	pancreas:	n/a
34	chr1:174844490-174844540	ECC-1	luminal epithelium:	n/a
35	chr1:174844490-174844540	IMR90	lung:	fetal
36	chr1:174844490-174844540	NH-A	brain:	n/a
37	chr1:174844490-174844540	HRPEpiC	eye:	n/a
38	chr1:174844490-174844540	RPTEC	kidney:	n/a
39	chr1:174844490-174844540	HL-60	blood:	n/a
40	chr1:174844490-174844540	AG04449	skin:	fetal
41	chr1:174844490-174844540	BE2_C	brain:	n/a
42	chr1:174844490-174844540	ProgFib	skin:	n/a
43	chr1:174844490-174844540	AoSMC	blood vessel:	n/a
44	chr1:174844490-174844540	HMEC	breast:	n/a
45	chr1:174844490-174844540	SAEC	small airway:	n/a
46	chr1:174844490-174844540	HCM	heart:	n/a
47	chr1:174844490-174844540	GM19239	blood:	n/a
48	chr1:174844490-174844540	Hela-S3	cervix:	n/a
49	chr1:174844490-174844540	NT2-D1	testis:	n/a
50	chr1:174844490-174844540	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174843626..174846037-chr1:174846205..174848852,2	K562	blood:
2	chr1:174840446..174846237-chr1:174965266..174970099,5	MCF-7	breast:

No data

Variant related genes	Relation type
RABGAP1L	TF binding region
RABGAP1L	CpG island
ENSG00000252552	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11800858	1.00[AFR][1000 genomes]
rs11802150	1.00[AFR][1000 genomes]
rs11808301	1.00[AFR][1000 genomes]
rs72715270	1.00[AFR][1000 genomes]
rs72715277	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72715289	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72717622	1.00[AFR][1000 genomes]
rs72717672	1.00[AFR][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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174838600-174847400	Weak transcription	Esophagus	oesophagus
2	chr1:174840600-174846200	Enhancers	K562	blood
3	chr1:174840600-174846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:174841400-174846400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:174842000-174846600	Weak transcription	HSMMtube	muscle
6	chr1:174843200-174846400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:174843200-174846400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:174843200-174847000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:174843200-174847400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:174843400-174844600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:174843400-174844800	Active TSS	Duodenum Mucosa	Duodenum
12	chr1:174843400-174845200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:174843400-174845200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:174843400-174845200	Active TSS	Rectal Smooth Muscle	rectum
15	chr1:174843400-174845400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:174843400-174845600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:174843400-174846000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:174843400-174846000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:174843400-174846000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:174843400-174846200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:174843400-174846400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:174843400-174846400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:174843400-174846400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:174843400-174846600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:174843400-174846600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:174843400-174846600	Active TSS	Fetal Intestine Small	intestine
27	chr1:174843400-174847400	Active TSS	Fetal Stomach	stomach
28	chr1:174843400-174847400	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr1:174843400-174847600	Active TSS	Fetal Intestine Large	intestine
30	chr1:174843600-174844600	Active TSS	Fetal Kidney	kidney
31	chr1:174843600-174844600	Active TSS	Fetal Muscle Leg	muscle
32	chr1:174843600-174845000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:174843600-174846800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:174843600-174846800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:174843600-174847000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:174843600-174847400	Active TSS	Stomach Mucosa	stomach
37	chr1:174844000-174844800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:174844000-174844800	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:174844000-174845200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:174844000-174845400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:174844000-174846400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:174844000-174846400	Weak transcription	Pancreas	Pancrea
43	chr1:174844000-174852000	Weak transcription	Left Ventricle	heart
44	chr1:174844000-174855200	Weak transcription	Right Atrium	heart
45	chr1:174844200-174844600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:174844200-174844600	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:174844200-174844600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:174844200-174844800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:174844200-174844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:174844200-174844800	Enhancers	Fetal Lung	lung

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