Variant report

Variant	rs73093304
Chromosome Location	chr1:227918420-227918421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr1:227918072-227918764	HepG2	liver:	n/a	n/a
2	CTCF	chr1:227917732-227918821	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr1:227915585-227918672	A549	lung:	n/a	chr1:227916018-227916028 chr1:227918104-227918114 chr1:227916648-227916658
4	MTA3	chr1:227916263-227918766	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:227910908-227920562	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:227915589-227919836	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr1:227914982-227921463	K562	blood:	n/a	n/a
8	CTCF	chr1:227917781-227918665	A549	lung:	n/a	n/a
9	POLR2A	chr1:227918338-227918752	HepG2	liver:	n/a	n/a
10	ZMIZ1	chr1:227918138-227918603	K562	blood:	n/a	n/a
11	CHD2	chr1:227917969-227918466	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:227916272-227919690	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:227910941-227920625	MCF10A-Er-Src	breast:	n/a	n/a
14	SMC3	chr1:227917878-227918582	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:227915796-227918768	GM18526	blood:	n/a	n/a
16	POLR2A	chr1:227916673-227919956	HepG2	liver:	n/a	n/a
17	POU2F2	chr1:227917864-227918518	GM12891	blood:	n/a	chr1:227918155-227918168
18	POLR2A	chr1:227915709-227919959	GM18951	blood:	n/a	n/a
19	CTCF	chr1:227918103-227918449	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:227918050-227918427	GM19238	blood:	n/a	n/a
21	POLR2A	chr1:227915712-227919917	K562	blood:	n/a	n/a
22	NFIC	chr1:227918137-227918905	ECC-1	luminal epithelium:	n/a	n/a
23	RAD21	chr1:227917919-227918484	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr1:227917245-227918462	H1-hESC	embryonic stem cell:	n/a	chr1:227917973-227917984 chr1:227917511-227917520
25	POLR2A	chr1:227916329-227918810	HCT-116	colon:	n/a	n/a
26	RAD21	chr1:227917990-227918515	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr1:227916292-227919117	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:227915746-227919787	GM19099	blood:	n/a	n/a
29	POLR2A	chr1:227916413-227919627	K562	blood:	n/a	n/a
30	ZNF263	chr1:227916392-227918841	HEK293-T-REx	kidney:	n/a	n/a
31	RAD21	chr1:227918074-227918447	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:227915592-227919533	MCF-7	breast:	n/a	n/a
33	MAFK	chr1:227917941-227918596	HepG2	liver:	n/a	chr1:227918114-227918129 chr1:227918060-227918071
34	POLR2A	chr1:227916260-227918761	HCT-116	colon:	n/a	n/a
35	POLR2A	chr1:227918258-227918431	GM12891	blood:	n/a	n/a
36	MYBL2	chr1:227918282-227918774	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:227914179-227919823	Hela-S3	cervix:	n/a	n/a
38	PML	chr1:227917694-227918764	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:227915658-227920836	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:227914462-227920881	HepG2	liver:	n/a	n/a
41	SIN3A	chr1:227917721-227918550	H1-hESC	embryonic stem cell:	n/a	n/a
42	SMC3	chr1:227918037-227918587	K562	blood:	n/a	n/a
43	POLR2A	chr1:227916824-227919789	GM12892	blood:	n/a	n/a
44	POLR2A	chr1:227917854-227919491	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:227914027-227920701	GM12891	blood:	n/a	n/a
46	BHLHE40	chr1:227918111-227919312	HepG2	liver:	n/a	n/a
47	POLR2A	chr1:227916211-227920587	PANC-1	pancreas:	n/a	n/a
48	KAP1	chr1:227917222-227918655	HEK293	kidney:	n/a	n/a
49	POLR2A	chr1:227916271-227919957	PFSK-1	brain:	n/a	n/a
50	BCL3	chr1:227916108-227918608	A549	lung:	n/a	chr1:227918001-227918010

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227675888..227678254-chr1:227916925..227919075,2	MCF-7	breast:
2	chr1:227916806..227918917-chr16:56965521..56967737,2	K562	blood:
3	chr1:227916734..227919516-chr1:228336405..228338652,2	MCF-7	breast:
4	chr1:227917049..227918817-chr17:57920082..57922473,2	MCF-7	breast:
5	chr1:227916348..227918529-chr1:228270679..228272482,2	MCF-7	breast:
6	chr1:227918176..227918898-chr20:30192864..30193775,2	Hela-S3	cervix:
7	chr1:227917727..227921370-chr1:227944241..227947517,4	MCF-7	breast:
8	chr1:227917332..227919263-chr20:52209333..52211800,2	MCF-7	breast:
9	chr1:227917409..227918706-chr1:228134035..228134836,3	MCF-7	breast:
10	chr1:227917861..227920741-chr1:228675887..228677861,2	MCF-7	breast:
11	chr1:227918162..227918668-chr1:227949863..227950566,2	MCF-7	breast:
12	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:

No data

Variant related genes	Relation type
SNAP47	TF binding region
ENSG00000198835	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000051108	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000143816	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000168159	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

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]
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[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]
rs73093319	1.00[AMR][1000 genomes]
rs73093328	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093344	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093354	0.93[AFR][1000 genomes];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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098933	1.00[AMR][1000 genomes]
rs73099300	1.00[AMR][1000 genomes]
rs73099302	1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs73101653	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	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227916200-227918600	Weak transcription	HSMMtube	muscle
2	chr1:227916400-227918600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr1:227916600-227919600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:227916800-227918600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr1:227916800-227918600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:227916800-227918600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:227916800-227918800	Enhancers	Placenta	Placenta
8	chr1:227916800-227919400	Weak transcription	Aorta	Aorta
9	chr1:227916800-227919400	Weak transcription	Osteobl	bone
10	chr1:227916800-227921600	Weak transcription	HUVEC	blood vessel
11	chr1:227917000-227918600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:227917000-227918600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:227917000-227918600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:227917000-227918600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:227917000-227918600	Enhancers	Adipose Nuclei	Adipose
16	chr1:227917000-227918600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:227917000-227918600	Enhancers	Right Atrium	heart
18	chr1:227917000-227918600	Enhancers	Right Ventricle	heart
19	chr1:227917000-227918600	Weak transcription	NHEK	skin
20	chr1:227917000-227918800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:227917000-227918800	Enhancers	Fetal Intestine Large	intestine
22	chr1:227917000-227918800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:227917000-227918800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:227917000-227919200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:227917000-227919600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:227917000-227921000	Weak transcription	Hela-S3	cervix
27	chr1:227917000-227921800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:227917000-227921800	Weak transcription	Psoas Muscle	Psoas
29	chr1:227917200-227918600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:227917200-227918600	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:227917200-227918600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:227917200-227918800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:227917200-227918800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:227917200-227918800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:227917200-227918800	Enhancers	Left Ventricle	heart
36	chr1:227917200-227919000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:227917200-227919000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:227917200-227919200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:227917200-227919200	Enhancers	Pancreas	Pancrea
40	chr1:227917200-227919600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:227917200-227920400	Genic enhancers	Spleen	Spleen
42	chr1:227917200-227921400	Weak transcription	Fetal Brain Male	brain
43	chr1:227917200-227921400	Weak transcription	NH-A	brain
44	chr1:227917200-227921600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:227917200-227921600	Weak transcription	Stomach Mucosa	stomach
46	chr1:227917200-227922000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:227917400-227918600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:227917400-227918600	Enhancers	Colon Smooth Muscle	Colon
49	chr1:227917400-227918600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:227917400-227919000	Enhancers	Ovary	ovary

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