Variant report

Variant	rs73101653
Chromosome Location	chr1:227915979-227915980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:227915651-227916633	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr1:227915585-227918672	A549	lung:	n/a	chr1:227916018-227916028 chr1:227918104-227918114 chr1:227916648-227916658
3	POLR2A	chr1:227910908-227920562	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:227915751-227916202	MCF-7	breast:	n/a	n/a
5	FOSL2	chr1:227915682-227916127	MCF-7	breast:	n/a	chr1:227916052-227916061 chr1:227916051-227916060 chr1:227915873-227915881 chr1:227916048-227916057
6	POLR2A	chr1:227915589-227919836	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr1:227914982-227921463	K562	blood:	n/a	n/a
8	STAT3	chr1:227915763-227916123	MCF10A-Er-Src	breast:	n/a	chr1:227915984-227915996
9	FOS	chr1:227915723-227916058	MCF10A-Er-Src	breast:	n/a	chr1:227915874-227915885 chr1:227915873-227915881 chr1:227916048-227916057
10	POLR2A	chr1:227915648-227916152	ECC-1	luminal epithelium:	n/a	n/a
11	NFATC1	chr1:227915654-227917479	GM12878	blood:	n/a	n/a
12	BCL3	chr1:227915664-227916089	A549	lung:	n/a	chr1:227916014-227916027
13	PBX3	chr1:227915529-227918228	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr1:227915840-227915990	SAEC	small airway:	n/a	chr1:227915936-227915944
15	POLR2A	chr1:227910941-227920625	MCF10A-Er-Src	breast:	n/a	n/a
16	TAF7	chr1:227915756-227916070	H1-hESC	embryonic stem cell:	n/a	n/a
17	CCNT2	chr1:227915779-227916155	K562	blood:	n/a	n/a
18	POLR2A	chr1:227915796-227918768	GM18526	blood:	n/a	n/a
19	POLR2A	chr1:227915711-227916147	HCT-116	colon:	n/a	n/a
20	CEBPD	chr1:227915857-227916215	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:227915709-227919959	GM18951	blood:	n/a	n/a
22	ZNF143	chr1:227915748-227916101	H1-hESC	embryonic stem cell:	n/a	n/a
23	NFIC	chr1:227915656-227916170	ECC-1	luminal epithelium:	n/a	n/a
24	CHD2	chr1:227915748-227916049	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:227915739-227916242	A549	lung:	n/a	n/a
26	STAT3	chr1:227915794-227916475	MCF10A-Er-Src	breast:	n/a	chr1:227915984-227915996
27	TCF12	chr1:227915545-227916226	ECC-1	luminal epithelium:	n/a	chr1:227916018-227916028
28	ELF1	chr1:227915610-227916194	GM12878	blood:	n/a	n/a
29	RUNX3	chr1:227915618-227916082	GM12878	blood:	n/a	n/a
30	GTF2F1	chr1:227915833-227916028	Hela-S3	cervix:	n/a	n/a
31	SIN3AK20	chr1:227915570-227916813	MCF-7	breast:	n/a	n/a
32	POLR2A	chr1:227915747-227915997	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:227915744-227916272	A549	lung:	n/a	n/a
34	PBX3	chr1:227915640-227918307	A549	lung:	n/a	n/a
35	POLR2A	chr1:227915712-227919917	K562	blood:	n/a	n/a
36	CTCF	chr1:227915900-227916050	HCPEpiC	choroid plexus:	n/a	chr1:227915936-227915944
37	CTCF	chr1:227915840-227915990	HEK293	kidney:	n/a	chr1:227915936-227915944
38	FOS	chr1:227915707-227916040	MCF10A-Er-Src	breast:	n/a	chr1:227915874-227915885 chr1:227915873-227915881
39	POLR2A	chr1:227915816-227916085	GM12878	blood:	n/a	n/a
40	MXI1	chr1:227915761-227916483	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:227915887-227916179	A549	lung:	n/a	n/a
42	POLR2A	chr1:227915776-227916176	Gliobla	brain:	n/a	n/a
43	POLR2A	chr1:227915746-227919787	GM19099	blood:	n/a	n/a
44	MAX	chr1:227915647-227916769	ECC-1	luminal epithelium:	n/a	chr1:227916733-227916742 chr1:227916046-227916056
45	POLR2A	chr1:227915718-227916174	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:227915703-227916117	H1-neurons	neurons:	n/a	n/a
47	GTF2F1	chr1:227915867-227916042	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:227915592-227919533	MCF-7	breast:	n/a	n/a
49	MAZ	chr1:227915794-227916750	K562	blood:	n/a	chr1:227916733-227916742 chr1:227916046-227916056
50	FOS	chr1:227915710-227916036	MCF10A-Er-Src	breast:	n/a	chr1:227915874-227915885 chr1:227915873-227915881

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227915962-227916012	HAEpiC	amniotic membrane:	n/a
2	chr1:227915962-227916012	NHDF-neo	bronchial:	n/a
3	chr1:227915948-227915998	PrEC	prostate:	n/a
4	chr1:227915948-227915998	SAEC	small airway:	n/a
5	chr1:227915962-227916012	HCM	heart:	n/a
6	chr1:227915962-227916012	AoSMC	blood vessel:	n/a
7	chr1:227915948-227915998	HRCEpiC	kidney:	n/a
8	chr1:227915962-227916012	AG04449	skin:	fetal
9	chr1:227915962-227916012	HRE	kidney:	n/a
10	chr1:227915948-227915998	GM12891	blood:	n/a
11	chr1:227915962-227916012	Jurkat	blood:	n/a
12	chr1:227915948-227915998	GM19239	blood:	n/a
13	chr1:227915962-227916012	Caco-2	colon:	n/a
14	chr1:227915948-227915998	ovcar-3	ovarian:	n/a
15	chr1:227915948-227915998	SK-N-SH	brain:	n/a
16	chr1:227915962-227916012	NHBE	bronchial:	n/a
17	chr1:227915962-227916012	HRCEpiC	kidney:	n/a
18	chr1:227915962-227916012	NH-A	brain:	n/a
19	chr1:227915948-227915998	HCPEpiC	choroid plexus:	n/a
20	chr1:227915948-227915998	Caco-2	colon:	n/a
21	chr1:227915962-227916012	MCF10A-Er-Src	breast:	n/a
22	chr1:227915962-227916012	H1-hESC	embryonic stem cell:	embryo
23	chr1:227915948-227915998	Hepatocyte	liver:	n/a
24	chr1:227915948-227915998	Hela-S3	cervix:	n/a
25	chr1:227915962-227916012	GM12878	blood:	n/a
26	chr1:227915962-227916012	GM12892	blood:	n/a
27	chr1:227915962-227916012	SK-N-MC	brain:	n/a
28	chr1:227915962-227916012	SK-N-SH_RA	brain:	n/a
29	chr1:227915962-227916012	HCT-116	colon:	n/a
30	chr1:227915962-227916012	U87	brain:	n/a
31	chr1:227915948-227915998	BE2_C	brain:	n/a
32	chr1:227915962-227916012	ProgFib	skin:	n/a
33	chr1:227915948-227915998	AoSMC	blood vessel:	n/a
34	chr1:227915962-227916012	HL-60	blood:	n/a
35	chr1:227915948-227915998	T-47D	breast:	n/a
36	chr1:227915948-227915998	K562	blood:	n/a
37	chr1:227915962-227916012	PFSK-1	brain:	n/a
38	chr1:227915948-227915998	LNCaP	prostate:	n/a
39	chr1:227915962-227916012	AG10803	skin:	n/a
40	chr1:227915948-227915998	HUVEC	blood vessel:	n/a
41	chr1:227915962-227916012	RPTEC	kidney:	n/a
42	chr1:227915948-227915998	HRPEpiC	eye:	n/a
43	chr1:227915948-227915998	SK-N-SH_RA	brain:	n/a
44	chr1:227915948-227915998	HMEC	breast:	n/a
45	chr1:227915948-227915998	NHBE	bronchial:	n/a
46	chr1:227915948-227915998	HCM	heart:	n/a
47	chr1:227915962-227916012	HNPCEpiC	eye:	n/a
48	chr1:227915948-227915998	A549	lung:	n/a
49	chr1:227915948-227915998	HNPCEpiC	eye:	n/a
50	chr1:227915948-227915998	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr1:227914603..227917495-chr9:137216399..137218458,2	MCF-7	breast:
2	chr1:227751140..227752953-chr1:227914608..227916118,2	MCF-7	breast:
3	chr1:227669242..227673785-chr1:227914780..227918377,5	MCF-7	breast:
4	chr1:227750211..227752851-chr1:227914757..227917634,3	MCF-7	breast:
5	chr1:227915033..227916760-chr1:228128062..228129595,2	K562	blood:
6	chr1:227915693..227918216-chr1:228290174..228292173,2	MCF-7	breast:
7	chr1:227915024..227917795-chr17:57915230..57917196,2	MCF-7	breast:
8	chr1:227885280..227887475-chr1:227914346..227916026,2	K562	blood:

No data

Variant related genes	Relation type
SNAP47	TF binding region
SNAP47	CpG island
ENSG00000186350	Chromatin interaction
ENSG00000237193	Chromatin interaction
ENSG00000215812	Chromatin interaction
ENSG00000181450	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000264483	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12563564	1.00[AMR][1000 genomes]
rs12564917	1.00[AMR][1000 genomes]
rs12565618	1.00[AMR][1000 genomes]
rs12565653	1.00[AMR][1000 genomes]
rs12567084	1.00[AMR][1000 genomes]
rs16847929	1.00[AMR][1000 genomes]
rs16847987	1.00[AMR][1000 genomes]
rs16859962	1.00[AMR][1000 genomes]
rs16860227	1.00[AMR][1000 genomes]
rs17492447	1.00[AMR][1000 genomes]
rs2101862	1.00[AMR][1000 genomes]
rs2313220	1.00[AMR][1000 genomes]
rs35703429	1.00[AMR][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	1.00[AMR][1000 genomes]
rs59404931	1.00[AMR][1000 genomes]
rs59461077	1.00[AMR][1000 genomes]
rs59772630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60835672	1.00[AMR][1000 genomes]
rs61283390	1.00[AMR][1000 genomes]
rs6665512	1.00[AMR][1000 genomes]
rs6675470	1.00[AMR][1000 genomes]
rs73090935	1.00[AMR][1000 genomes]
rs73090936	1.00[AMR][1000 genomes]
rs73090937	1.00[AMR][1000 genomes]
rs73090938	1.00[AMR][1000 genomes]
rs73090942	1.00[AMR][1000 genomes]
rs73090947	1.00[AMR][1000 genomes]
rs73090948	1.00[AMR][1000 genomes]
rs73090952	1.00[AMR][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	1.00[AMR][1000 genomes]
rs73090986	1.00[AMR][1000 genomes]
rs73090987	1.00[AMR][1000 genomes]
rs73090994	1.00[AMR][1000 genomes]
rs73090995	1.00[AMR][1000 genomes]
rs73091000	1.00[AMR][1000 genomes]
rs73092604	1.00[AMR][1000 genomes]
rs73092607	1.00[AMR][1000 genomes]
rs73092610	1.00[AMR][1000 genomes]
rs73092646	1.00[AMR][1000 genomes]
rs73092653	1.00[AMR][1000 genomes]
rs73092661	1.00[AMR][1000 genomes]
rs73092665	1.00[AMR][1000 genomes]
rs73093304	1.00[AMR][1000 genomes]
rs73093319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093328	1.00[AMR][1000 genomes]
rs73093344	1.00[AMR][1000 genomes]
rs73093354	1.00[AMR][1000 genomes]
rs73094528	1.00[AMR][1000 genomes]
rs73094536	1.00[AMR][1000 genomes]
rs73094538	1.00[AMR][1000 genomes]
rs73094556	1.00[AMR][1000 genomes]
rs73094558	1.00[AMR][1000 genomes]
rs73094561	1.00[AMR][1000 genomes]
rs73094571	1.00[AMR][1000 genomes]
rs73098926	1.00[AMR][1000 genomes]
rs73098933	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099300	1.00[AMR][1000 genomes]
rs73099302	1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs7526436	1.00[AMR][1000 genomes]
rs7546845	1.00[AMR][1000 genomes]
rs7554851	1.00[AMR][1000 genomes]
rs7554870	1.00[AMR][1000 genomes]
rs7555208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv945344	chr1:227899939-227917776	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
8	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227915200-227916000	Flanking Active TSS	GM12878-XiMat	blood
2	chr1:227915200-227916200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr1:227915400-227917200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:227915600-227916000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:227915600-227916000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:227915600-227916000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:227915600-227916000	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr1:227915600-227916000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr1:227915600-227916000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr1:227915600-227916000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:227915600-227916000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr1:227915600-227916000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr1:227915600-227916000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:227915600-227916000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:227915600-227916000	Flanking Active TSS	Liver	Liver
16	chr1:227915600-227916000	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr1:227915600-227916000	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr1:227915600-227916000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr1:227915600-227916000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:227915600-227916000	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr1:227915600-227916000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr1:227915600-227916000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr1:227915600-227916000	Flanking Active TSS	Fetal Thymus	thymus
24	chr1:227915600-227916000	Flanking Active TSS	Ovary	ovary
25	chr1:227915600-227916000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:227915600-227916000	Enhancers	Small Intestine	intestine
27	chr1:227915600-227916000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr1:227915600-227916000	Flanking Active TSS	Hela-S3	cervix
29	chr1:227915600-227916000	Enhancers	HSMM	muscle
30	chr1:227915600-227916000	Flanking Active TSS	K562	blood
31	chr1:227915600-227916000	Flanking Active TSS	NHEK	skin
32	chr1:227915600-227916200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:227915600-227916400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr1:227915600-227916400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:227915600-227916400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:227915600-227916400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:227915600-227916400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:227915600-227916400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:227915600-227916400	Active TSS	Brain Anterior Caudate	brain
40	chr1:227915600-227916400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:227915600-227916400	Active TSS	Fetal Intestine Large	intestine
42	chr1:227915600-227916400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:227915600-227916400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:227915600-227916600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:227915600-227916600	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:227915600-227916600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr1:227915600-227916600	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:227915600-227916600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:227915600-227916600	Active TSS	A549	lung
50	chr1:227915600-227916800	Active TSS	HUES64 Cell Line	embryonic stem cell

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