Variant report

Variant	rs6672625
Chromosome Location	chr1:150953985-150953986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr1:150953613-150955128	MCF-7	breast:	n/a	n/a
2	MAX	chr1:150953679-150954053	H1-hESC	embryonic stem cell:	n/a	chr1:150954010-150954019
3	TBP	chr1:150953582-150954073	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF217	chr1:150953711-150954952	MCF-7	breast:	n/a	n/a
5	HA-E2F1	chr1:150953516-150954874	MCF-7	breast:	n/a	n/a
6	EP300	chr1:150953548-150954677	ECC-1	luminal epithelium:	n/a	chr1:150953929-150953945 chr1:150953966-150953982
7	TAF1	chr1:150953511-150954110	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr1:150953807-150954405	H1-hESC	embryonic stem cell:	n/a	chr1:150954010-150954019
9	EP300	chr1:150953533-150954895	HepG2	liver:	n/a	chr1:150953929-150953945 chr1:150953966-150953982
10	CEBPB	chr1:150953830-150954195	Hela-S3	cervix:	n/a	chr1:150954007-150954018
11	NR2F2	chr1:150953437-150955516	MCF-7	breast:	n/a	n/a
12	MAX	chr1:150953445-150955230	MCF-7	breast:	n/a	chr1:150954010-150954019
13	TBP	chr1:150953608-150953998	HepG2	liver:	n/a	n/a
14	TCF12	chr1:150953790-150954062	H1-hESC	embryonic stem cell:	n/a	chr1:150953966-150953976 chr1:150953905-150953912
15	CEBPB	chr1:150953839-150954183	HepG2	liver:	n/a	chr1:150954007-150954018
16	SP1	chr1:150953551-150954550	H1-hESC	embryonic stem cell:	n/a	chr1:150953843-150953852 chr1:150953939-150953948 chr1:150953844-150953853 chr1:150953842-150953854 chr1:150953937-150953949 chr1:150953843-150953853 chr1:150953938-150953947 chr1:150953816-150953830 chr1:150953843-150953857 chr1:150953842-150953854 chr1:150953937-150953949 chr1:150953843-150953852 chr1:150953843-150953853
17	CEBPB	chr1:150953685-150954204	H1-hESC	embryonic stem cell:	n/a	chr1:150954007-150954018
18	SIN3AK20	chr1:150953478-150955152	MCF-7	breast:	n/a	n/a
19	POLR2A	chr1:150953488-150954111	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr1:150953436-150955846	MCF-7	breast:	n/a	n/a
21	CEBPD	chr1:150953652-150954086	HepG2	liver:	n/a	n/a
22	MXI1	chr1:150953572-150954107	HepG2	liver:	n/a	n/a
23	TEAD4	chr1:150953496-150954733	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr1:150953533-150953999	H1-hESC	embryonic stem cell:	n/a	n/a
25	EP300	chr1:150953472-150954827	HepG2	liver:	n/a	chr1:150953929-150953945 chr1:150953966-150953982
26	HEY1	chr1:150953535-150954008	HepG2	liver:	n/a	n/a
27	MAX	chr1:150953420-150955157	HepG2	liver:	n/a	chr1:150954010-150954019
28	POLR2A	chr1:150953452-150954137	HepG2	liver:	n/a	n/a
29	MYBL2	chr1:150953553-150954019	HepG2	liver:	n/a	n/a
30	JUN	chr1:150953849-150954281	H1-hESC	embryonic stem cell:	n/a	chr1:150953937-150953946
31	NFIC	chr1:150953644-150955029	ECC-1	luminal epithelium:	n/a	n/a
32	GATA3	chr1:150953803-150954956	MCF-7	breast:	n/a	n/a
33	POLR2A	chr1:150953342-150954973	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:150953545-150955004	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:150953588-150954131	HCT-116	colon:	n/a	n/a
36	KAP1	chr1:150953555-150954075	U2OS	brain:	n/a	n/a
37	POLR2A	chr1:150953592-150954078	ProgFib	skin:	n/a	n/a
38	EP300	chr1:150953590-150955177	ECC-1	luminal epithelium:	n/a	chr1:150953929-150953945 chr1:150953966-150953982
39	RCOR1	chr1:150953653-150954089	HepG2	liver:	n/a	n/a
40	TEAD4	chr1:150953538-150954765	HepG2	liver:	n/a	n/a
41	MAX	chr1:150953879-150954095	Hela-S3	cervix:	n/a	chr1:150954010-150954019
42	POLR2A	chr1:150953545-150954447	MCF-7	breast:	n/a	n/a
43	POLR2A	chr1:150953475-150954082	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr1:150953482-150955441	MCF-7	breast:	n/a	chr1:150954007-150954018
45	POLR2A	chr1:150953558-150954046	HepG2	liver:	n/a	n/a
46	CEBPB	chr1:150953828-150954188	HepG2	liver:	n/a	chr1:150954007-150954018
47	NFIC	chr1:150953532-150954240	HepG2	liver:	n/a	n/a
48	ATF2	chr1:150953528-150954094	H1-hESC	embryonic stem cell:	n/a	n/a
49	GATA3	chr1:150953478-150955241	MCF-7	breast:	n/a	n/a
50	EP300	chr1:150953650-150955136	MCF-7	breast:	n/a	chr1:150953929-150953945 chr1:150953966-150953982

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150953943-150953993	HCF	heart:	n/a
2	chr1:150953943-150953993	SK-N-MC	brain:	n/a
3	chr1:150953943-150953993	AG04449	skin:	fetal
4	chr1:150953943-150953993	HEK293	kidney:	embryo
5	chr1:150953943-150953993	GM12891	blood:	n/a
6	chr1:150953943-150953993	Hela-S3	cervix:	n/a
7	chr1:150953943-150953993	GM12878	blood:	n/a
8	chr1:150953943-150953993	HL-60	blood:	n/a
9	chr1:150953943-150953993	SKMC	muscle:	n/a
10	chr1:150953943-150953993	A549	lung:	n/a
11	chr1:150953943-150953993	AG10803	skin:	n/a
12	chr1:150953943-150953993	BJ	skin:	n/a
13	chr1:150953943-150953993	AG04450	lung:	fetal
14	chr1:150953943-150953993	MCF-7	breast:	n/a
15	chr1:150953943-150953993	HCT-116	colon:	n/a
16	chr1:150953943-150953993	H1-hESC	embryonic stem cell:	embryo
17	chr1:150953943-150953993	GM19239	blood:	n/a
18	chr1:150953943-150953993	SK-N-SH	brain:	n/a
19	chr1:150953943-150953993	LNCaP	prostate:	n/a
20	chr1:150953943-150953993	Caco-2	colon:	n/a
21	chr1:150953943-150953993	IMR90	lung:	fetal
22	chr1:150953943-150953993	ProgFib	skin:	n/a
23	chr1:150953943-150953993	AG09319	gingival:	n/a
24	chr1:150953943-150953993	AoSMC	blood vessel:	n/a
25	chr1:150953943-150953993	SK-N-SH_RA	brain:	n/a
26	chr1:150953943-150953993	BE2_C	brain:	n/a
27	chr1:150953943-150953993	HAEpiC	amniotic membrane:	n/a
28	chr1:150953943-150953993	HCM	heart:	n/a
29	chr1:150953943-150953993	HUVEC	blood vessel:	n/a
30	chr1:150953943-150953993	HCPEpiC	choroid plexus:	n/a
31	chr1:150953943-150953993	HRE	kidney:	n/a
32	chr1:150953943-150953993	T-47D	breast:	n/a
33	chr1:150953943-150953993	HRPEpiC	eye:	n/a
34	chr1:150953943-150953993	HRCEpiC	kidney:	n/a
35	chr1:150953943-150953993	HNPCEpiC	eye:	n/a
36	chr1:150953943-150953993	HepG2	liver:	n/a
37	chr1:150953943-150953993	HMEC	breast:	n/a
38	chr1:150953943-150953993	RPTEC	kidney:	n/a
39	chr1:150953943-150953993	PFSK-1	brain:	n/a
40	chr1:150953943-150953993	GM12892	blood:	n/a
41	chr1:150953943-150953993	NB4	blood:	n/a
42	chr1:150953943-150953993	NT2-D1	testis:	n/a
43	chr1:150953943-150953993	ovcar-3	ovarian:	n/a
44	chr1:150953943-150953993	K562	blood:	n/a
45	chr1:150953943-150953993	CMK	blood:	n/a
46	chr1:150953943-150953993	ECC-1	luminal epithelium:	n/a
47	chr1:150953943-150953993	PrEC	prostate:	n/a
48	chr1:150953943-150953993	NHDF-neo	bronchial:	n/a
49	chr1:150953943-150953993	NHBE	bronchial:	n/a
50	chr1:150953943-150953993	Hepatocyte	liver:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150238576..150241529-chr1:150952972..150954986,2	MCF-7	breast:
2	chr1:150951645..150956254-chr1:150963775..150970753,11	MCF-7	breast:
3	chr1:150951870..150954741-chr1:151030040..151032027,2	K562	blood:
4	chr1:150951620..150955085-chr1:150979651..150983018,4	K562	blood:
5	chr1:150953914..150954774-chr1:150980327..150981076,4	MCF-7	breast:
6	chr1:150533380..150535959-chr1:150953578..150956750,3	MCF-7	breast:
7	chr1:150952182..150958148-chr1:150976816..150982947,12	MCF-7	breast:
8	chr1:150549116..150552105-chr1:150952338..150954284,2	MCF-7	breast:
9	chr1:150950574..150954547-chr1:151027400..151032185,6	MCF-7	breast:
10	chr1:150539071..150540911-chr1:150952638..150955044,2	MCF-7	breast:
11	chr1:150953971..150955993-chr7:99715179..99717200,2	MCF-7	breast:
12	chr1:150952337..150955570-chr1:151040233..151043325,3	MCF-7	breast:
13	chr1:150952576..150954333-chr7:75931969..75934548,2	MCF-7	breast:
14	chr1:149856818..149859748-chr1:150952737..150955704,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANXA9	TF binding region
ANXA9	CpG island
ENSG00000106290	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000106211	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000118292	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10157132	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12044969	0.81[AFR][1000 genomes]
rs12090632	1.00[AMR][1000 genomes]
rs12097548	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832391	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832604	0.95[AFR][1000 genomes]
rs55884154	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56341880	0.89[AMR][1000 genomes]
rs57376891	1.00[AMR][1000 genomes]
rs57378704	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57734108	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57746902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58338969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59687612	0.87[AMR][1000 genomes]
rs59703669	1.00[AMR][1000 genomes]
rs60676022	0.87[AMR][1000 genomes]
rs6674452	1.00[AMR][1000 genomes]
rs6703303	1.00[AMR][1000 genomes]
rs74127060	1.00[AMR][1000 genomes]
rs74127063	1.00[AMR][1000 genomes]
rs74127089	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127091	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127092	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128604	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128609	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522741	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547614	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988459	1.00[AMR][1000 genomes]
rs9988521	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150950200-150954200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:150952000-150954000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:150952000-150968000	Weak transcription	Spleen	Spleen
4	chr1:150952200-150955000	Weak transcription	Brain Germinal Matrix	brain
5	chr1:150952400-150954400	Enhancers	Liver	Liver
6	chr1:150952600-150954000	Weak transcription	Esophagus	oesophagus
7	chr1:150952600-150954000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:150952600-150954200	Weak transcription	Colonic Mucosa	Colon
9	chr1:150952600-150954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:150952600-150954400	Weak transcription	Fetal Lung	lung
11	chr1:150952600-150954800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:150952600-150957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:150952600-150960800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:150952600-150968000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:150953200-150955400	Enhancers	Placenta	Placenta
16	chr1:150953200-150955400	Enhancers	Fetal Thymus	thymus
17	chr1:150953200-150956200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:150953200-150956200	Enhancers	Fetal Intestine Large	intestine
19	chr1:150953200-150956200	Enhancers	HMEC	breast
20	chr1:150953400-150954000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:150953400-150954000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:150953400-150954200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:150953400-150954600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:150953400-150954600	Flanking Active TSS	Hela-S3	cervix
25	chr1:150953400-150955000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:150953400-150955000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:150953400-150955400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:150953400-150955400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:150953400-150955400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:150953600-150954000	Enhancers	NH-A	brain
31	chr1:150953600-150954200	Enhancers	HSMMtube	muscle
32	chr1:150953600-150954400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:150953600-150954400	Enhancers	Pancreas	Pancrea
34	chr1:150953600-150954600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:150953600-150954800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:150953600-150954800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:150953600-150954800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:150953600-150954800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:150953600-150954800	Enhancers	Fetal Kidney	kidney
40	chr1:150953600-150954800	Enhancers	Thymus	Thymus
41	chr1:150953600-150954800	Enhancers	NHLF	lung
42	chr1:150953600-150955000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:150953600-150955000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:150953600-150955000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:150953600-150955000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:150953600-150955000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:150953600-150955000	Flanking Active TSS	A549	lung
48	chr1:150953600-150955000	Enhancers	Osteobl	bone
49	chr1:150953600-150955200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:150953600-150955200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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