Variant report

Variant	rs73118072
Chromosome Location	chr1:224517984-224517985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:405)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr1:224517438-224518441	GM12878	blood:	n/a	chr1:224517604-224517613
2	MAX	chr1:224517382-224518684	SK-N-SH	brain:	n/a	n/a
3	JUND	chr1:224517466-224518542	K562	blood:	n/a	n/a
4	E2F4	chr1:224517571-224518665	MCF10A-Er-Src	breast:	n/a	n/a
5	MAZ	chr1:224517640-224518392	Hela-S3	cervix:	n/a	n/a
6	YY1	chr1:224517659-224518334	ECC-1	luminal epithelium:	n/a	n/a
7	ARID3A	chr1:224517916-224518571	K562	blood:	n/a	n/a
8	FOXM1	chr1:224517449-224518479	GM12878	blood:	n/a	n/a
9	PML	chr1:224517340-224518684	GM12878	blood:	n/a	n/a
10	E2F6	chr1:224517603-224518500	K562	blood:	n/a	n/a
11	TEAD4	chr1:224517531-224518443	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr1:224517508-224518446	GM18951	blood:	n/a	n/a
13	TCF12	chr1:224517709-224518309	A549	lung:	n/a	n/a
14	HMGN3	chr1:224517699-224518323	K562	blood:	n/a	n/a
15	CTCF	chr1:224517978-224518290	GM12878	blood:	n/a	n/a
16	ZC3H11A	chr1:224517587-224518436	K562	blood:	n/a	n/a
17	ELK1	chr1:224517313-224518409	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:224517587-224518410	GM12878	blood:	n/a	n/a
19	GABPA	chr1:224517824-224518417	K562	blood:	n/a	n/a
20	TBL1XR1	chr1:224517430-224518585	K562	blood:	n/a	n/a
21	SP4	chr1:224517466-224518315	H1-hESC	embryonic stem cell:	n/a	n/a
22	EGR1	chr1:224517792-224518288	GM12878	blood:	n/a	n/a
23	EP300	chr1:224517899-224518266	K562	blood:	n/a	chr1:224518160-224518176
24	POLR2A	chr1:224517405-224518383	Hela-S3	cervix:	n/a	n/a
25	SP1	chr1:224517669-224518362	GM12878	blood:	n/a	chr1:224517718-224517731
26	TCF7L2	chr1:224517532-224518392	PANC-1	pancreas:	n/a	chr1:224518096-224518103 chr1:224518095-224518104
27	MXI1	chr1:224517451-224518363	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:224517359-224518517	PFSK-1	brain:	n/a	n/a
29	SIX5	chr1:224517438-224518406	A549	lung:	n/a	n/a
30	POLR2A	chr1:224517405-224518463	K562	blood:	n/a	n/a
31	POLR2A	chr1:224517449-224518544	U87	brain:	n/a	n/a
32	NFIC	chr1:224517660-224518534	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:224517503-224518010	GM12891	blood:	n/a	n/a
34	POLR2A	chr1:224517478-224518506	GM12878	blood:	n/a	n/a
35	BCLAF1	chr1:224517585-224518372	GM12878	blood:	n/a	chr1:224517604-224517613
36	MAX	chr1:224517924-224518472	MCF-7	breast:	n/a	n/a
37	CREB1	chr1:224517664-224518381	A549	lung:	n/a	n/a
38	CTCF	chr1:224517622-224518428	K562	blood:	n/a	n/a
39	POLR2A	chr1:224517449-224518416	ECC-1	luminal epithelium:	n/a	n/a
40	RFX5	chr1:224517925-224518377	GM12878	blood:	n/a	n/a
41	JUND	chr1:224517651-224518493	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAF1	chr1:224517407-224518386	MCF-7	breast:	n/a	n/a
43	HEY1	chr1:224517529-224518399	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:224517606-224518338	HepG2	liver:	n/a	n/a
45	PAX5	chr1:224517830-224518266	GM12891	blood:	n/a	n/a
46	MAX	chr1:224517471-224518375	K562	blood:	n/a	n/a
47	PAX5	chr1:224517697-224518234	GM12878	blood:	n/a	n/a
48	GTF2F1	chr1:224517491-224518359	K562	blood:	n/a	n/a
49	GABPA	chr1:224517614-224518487	MCF-7	breast:	n/a	n/a
50	CUX1	chr1:224517647-224518486	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224517955-224518005	HIPEpiC	eye:	n/a
2	chr1:224517955-224518005	HL-60	blood:	n/a
3	chr1:224517955-224518005	HAEpiC	amniotic membrane:	n/a
4	chr1:224517955-224518005	HMEC	breast:	n/a
5	chr1:224517955-224518005	HCF	heart:	n/a
6	chr1:224517955-224518005	GM06990	blood:	n/a
7	chr1:224517955-224518005	BE2_C	brain:	n/a
8	chr1:224517955-224518005	ECC-1	luminal epithelium:	n/a
9	chr1:224517955-224518005	Jurkat	blood:	n/a
10	chr1:224517955-224518005	HCM	heart:	n/a
11	chr1:224517955-224518005	HCT-116	colon:	n/a
12	chr1:224517955-224518005	GM12891	blood:	n/a
13	chr1:224517955-224518005	RPTEC	kidney:	n/a
14	chr1:224517955-224518005	PFSK-1	brain:	n/a
15	chr1:224517955-224518005	SK-N-SH_RA	brain:	n/a
16	chr1:224517955-224518005	AG09319	gingival:	n/a
17	chr1:224517955-224518005	Hela-S3	cervix:	n/a
18	chr1:224517955-224518005	HCPEpiC	choroid plexus:	n/a
19	chr1:224517955-224518005	HEEpiC	esophagus:	n/a
20	chr1:224517955-224518005	NHDF-neo	bronchial:	n/a
21	chr1:224517955-224518005	HUVEC	blood vessel:	n/a
22	chr1:224517955-224518005	NH-A	brain:	n/a
23	chr1:224517955-224518005	T-47D	breast:	n/a
24	chr1:224517955-224518005	NHBE	bronchial:	n/a
25	chr1:224517955-224518005	GM12892	blood:	n/a
26	chr1:224517955-224518005	K562	blood:	n/a
27	chr1:224517955-224518005	PrEC	prostate:	n/a
28	chr1:224517955-224518005	PANC-1	pancreas:	n/a
29	chr1:224517955-224518005	SAEC	small airway:	n/a
30	chr1:224517955-224518005	GM19239	blood:	n/a
31	chr1:224517955-224518005	NB4	blood:	n/a
32	chr1:224517955-224518005	Caco-2	colon:	n/a
33	chr1:224517955-224518005	AG04450	lung:	fetal
34	chr1:224517955-224518005	SK-N-MC	brain:	n/a
35	chr1:224517955-224518005	HRPEpiC	eye:	n/a
36	chr1:224517955-224518005	LNCaP	prostate:	n/a
37	chr1:224517955-224518005	MCF10A-Er-Src	breast:	n/a
38	chr1:224517955-224518005	HRCEpiC	kidney:	n/a
39	chr1:224517955-224518005	HEK293	kidney:	embryo
40	chr1:224517955-224518005	ovcar-3	ovarian:	n/a
41	chr1:224517955-224518005	Hepatocyte	liver:	n/a
42	chr1:224517955-224518005	AG09309	skin:	n/a
43	chr1:224517955-224518005	MCF-7	breast:	n/a
44	chr1:224517955-224518005	AoSMC	blood vessel:	n/a
45	chr1:224517955-224518005	HNPCEpiC	eye:	n/a
46	chr1:224517955-224518005	SKMC	muscle:	n/a
47	chr1:224517955-224518005	GM12878	blood:	n/a
48	chr1:224517955-224518005	HRE	kidney:	n/a
49	chr1:224517955-224518005	U87	brain:	n/a
50	chr1:224517955-224518005	ProgFib	skin:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224515424..224519366-chr1:224544067..224546170,3	K562	blood:
2	chr1:223899719..223902673-chr1:224516675..224518721,2	K562	blood:
3	chr1:224514132..224518075-chr1:224542843..224545822,3	K562	blood:
4	chr1:224516510..224520785-chr1:224542312..224545237,4	MCF-7	breast:
5	chr1:224517529..224519728-chr1:224523022..224525761,2	MCF-7	breast:
6	chr1:224299141..224303224-chr1:224514971..224520507,6	MCF-7	breast:
7	chr1:223899719..223901460-chr1:224517221..224519970,2	K562	blood:
8	chr1:224491426..224493764-chr1:224517722..224519701,2	MCF-7	breast:
9	chr1:224301518..224303239-chr1:224517881..224519939,3	K562	blood:
10	chr1:224301568..224304233-chr1:224516678..224521021,7	MCF-7	breast:
11	chr1:224376961..224379372-chr1:224517838..224520632,2	K562	blood:

No data

Variant related genes	Relation type
NVL	TF binding region
NVL	CpG island
ENSG00000143756	Chromatin interaction
ENSG00000238856	Chromatin interaction
ENSG00000206887	Chromatin interaction
ENSG00000162909	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000143771	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58076906	1.00[AMR][1000 genomes]
rs61424101	1.00[AMR][1000 genomes]
rs61546171	1.00[AMR][1000 genomes]
rs73118068	1.00[AMR][1000 genomes]
rs73118087	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118092	1.00[AMR][1000 genomes]
rs73121832	1.00[AMR][1000 genomes]
rs73121839	1.00[AMR][1000 genomes]
rs73121851	1.00[AMR][1000 genomes]
rs73127512	1.00[AMR][1000 genomes]
rs73131619	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224516200-224518600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr1:224516200-224518800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:224516200-224518800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:224516200-224518800	Active TSS	Fetal Kidney	kidney
5	chr1:224516200-224518800	Active TSS	NHDF-Ad	bronchial
6	chr1:224516400-224518800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:224516400-224519000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:224516400-224519000	Active TSS	Psoas Muscle	Psoas
9	chr1:224516400-224519000	Active TSS	A549	lung
10	chr1:224516600-224518600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:224516600-224518600	Active TSS	Colon Smooth Muscle	Colon
12	chr1:224516600-224518600	Active TSS	Esophagus	oesophagus
13	chr1:224516600-224518600	Active TSS	HMEC	breast
14	chr1:224516600-224518800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:224516600-224518800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:224516600-224518800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:224516600-224518800	Active TSS	NHLF	lung
18	chr1:224516600-224519000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:224516600-224519000	Active TSS	GM12878-XiMat	blood
20	chr1:224516800-224518600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:224516800-224518600	Active TSS	Ovary	ovary
22	chr1:224516800-224518600	Active TSS	Rectal Smooth Muscle	rectum
23	chr1:224516800-224518600	Active TSS	HSMM	muscle
24	chr1:224516800-224518800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:224516800-224518800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:224516800-224518800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:224516800-224518800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:224516800-224518800	Active TSS	Fetal Intestine Large	intestine
29	chr1:224516800-224518800	Active TSS	Right Ventricle	heart
30	chr1:224516800-224519000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:224516800-224519000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:224516800-224519000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:224516800-224519000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:224516800-224519000	Active TSS	K562	blood
35	chr1:224517000-224518200	Active TSS	Placenta	Placenta
36	chr1:224517000-224518400	Active TSS	Brain Germinal Matrix	brain
37	chr1:224517000-224518400	Active TSS	Gastric	stomach
38	chr1:224517000-224518600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:224517000-224518600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:224517000-224518600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:224517000-224518600	Active TSS	Fetal Intestine Small	intestine
42	chr1:224517000-224518600	Active TSS	Fetal Muscle Trunk	muscle
43	chr1:224517000-224518600	Active TSS	Fetal Muscle Leg	muscle
44	chr1:224517000-224518600	Active TSS	NHEK	skin
45	chr1:224517000-224518800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr1:224517000-224518800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr1:224517000-224518800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:224517000-224518800	Active TSS	Brain Angular Gyrus	brain
49	chr1:224517000-224518800	Active TSS	Fetal Lung	lung
50	chr1:224517000-224518800	Active TSS	Left Ventricle	heart

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