Variant report

Variant	rs74118316
Chromosome Location	chr1:153600279-153600280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:217)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:217 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:153599654-153600298	Hela-S3	cervix:	n/a	n/a
2	ELF1	chr1:153599292-153600415	MCF-7	breast:	n/a	n/a
3	TCF12	chr1:153599182-153600464	A549	lung:	n/a	n/a
4	CTCF	chr1:153600081-153600293	LNCaP	prostate:	n/a	n/a
5	ZBTB7A	chr1:153600056-153600330	HepG2	liver:	n/a	chr1:153600154-153600163
6	RAD21	chr1:153599929-153600333	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYBL2	chr1:153599642-153600294	HepG2	liver:	n/a	n/a
8	ZNF384	chr1:153599385-153600472	K562	blood:	n/a	n/a
9	ZBTB7A	chr1:153599183-153600573	ECC-1	luminal epithelium:	n/a	chr1:153600154-153600163
10	ZBTB7A	chr1:153599943-153600636	K562	blood:	n/a	chr1:153600154-153600163
11	POLR2A	chr1:153599307-153600336	ProgFib	skin:	n/a	n/a
12	CTCF	chr1:153599904-153600371	A549	lung:	n/a	n/a
13	MAX	chr1:153599302-153600381	ECC-1	luminal epithelium:	n/a	n/a
14	SRF	chr1:153599260-153600305	MCF-7	breast:	n/a	n/a
15	BACH1	chr1:153600152-153600284	K562	blood:	n/a	n/a
16	RAD21	chr1:153599953-153600311	HepG2	liver:	n/a	n/a
17	FOXA1	chr1:153599905-153600283	T-47D	breast:	n/a	n/a
18	RAD21	chr1:153599454-153600466	A549	lung:	n/a	n/a
19	ELF1	chr1:153599774-153600315	A549	lung:	n/a	n/a
20	ZBTB33	chr1:153599596-153600356	HCT-116	colon:	n/a	n/a
21	MAX	chr1:153599353-153600326	K562	blood:	n/a	n/a
22	YY1	chr1:153599419-153600351	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr1:153599058-153600390	HUVEC	blood vessel:	n/a	n/a
24	MAZ	chr1:153599536-153600370	HepG2	liver:	n/a	n/a
25	RCOR1	chr1:153599368-153600400	Hela-S3	cervix:	n/a	n/a
26	EP300	chr1:153599866-153600318	HepG2	liver:	n/a	n/a
27	ELF1	chr1:153599411-153600341	MCF-7	breast:	n/a	n/a
28	RAD21	chr1:153599846-153600352	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr1:153599427-153600328	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr1:153599315-153600298	K562	blood:	n/a	n/a
31	POLR2A	chr1:153598964-153600383	K562	blood:	n/a	n/a
32	SMC3	chr1:153599845-153600309	K562	blood:	n/a	n/a
33	MYC	chr1:153599383-153600316	Hela-S3	cervix:	n/a	n/a
34	SP1	chr1:153599547-153600455	A549	lung:	n/a	n/a
35	YY1	chr1:153599654-153600329	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:153599861-153600507	K562	blood:	n/a	n/a
37	CTCF	chr1:153600019-153600329	K562	blood:	n/a	n/a
38	KAP1	chr1:153599368-153600341	U2OS	brain:	n/a	n/a
39	MAFK	chr1:153599442-153600279	K562	blood:	n/a	n/a
40	YY1	chr1:153599730-153600296	HepG2	liver:	n/a	n/a
41	RCOR1	chr1:153599395-153600874	HepG2	liver:	n/a	n/a
42	NFYA	chr1:153599932-153600373	Hela-S3	cervix:	n/a	chr1:153600301-153600315 chr1:153600301-153600314 chr1:153600301-153600316 chr1:153600301-153600316
43	POLR2A	chr1:153599664-153600307	HUVEC	blood vessel:	n/a	n/a
44	RAD21	chr1:153599697-153600354	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr1:153599723-153600308	K562	blood:	n/a	n/a
46	CTCF	chr1:153600039-153600329	ProgFib	skin:	n/a	n/a
47	RFX5	chr1:153599384-153600331	Hela-S3	cervix:	n/a	chr1:153600304-153600313
48	POLR2A	chr1:153598701-153600412	PFSK-1	brain:	n/a	n/a
49	CTCF	chr1:153600047-153600308	Hela-S3	cervix:	n/a	n/a
50	NR2F2	chr1:153598686-153600424	MCF-7	breast:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153599562..153600368-chr3:42622842..42623637,2	Hela-S3	cervix:
2	chr1:153599949..153601639-chr1:153935071..153937718,2	MCF-7	breast:
3	chr1:153505870..153508233-chr1:153598440..153600666,2	MCF-7	breast:
4	chr1:153535304..153546939-chr1:153598248..153612195,40	MCF-7	breast:
5	chr1:153598208..153601029-chr1:153962097..153964477,2	K562	blood:
6	chr1:153599788..153602388-chr1:153699187..153702024,4	MCF-7	breast:
7	chr1:153599101..153601090-chr1:153642486..153644716,4	MCF-7	breast:
8	chr1:153515275..153518447-chr1:153598676..153601896,4	MCF-7	breast:
9	chr1:153539127..153551919-chr1:153598146..153608314,34	MCF-7	breast:
10	chr1:153597855..153601076-chr1:153629883..153633781,4	MCF-7	breast:
11	chr1:153599500..153600347-chr2:10952822..10953337,2	Hela-S3	cervix:
12	chr1:153599526..153600299-chr7:45018463..45019401,2	Hela-S3	cervix:
13	chr1:153599605..153601359-chr1:153938449..153940087,2	MCF-7	breast:
14	chr1:153537634..153542525-chr1:153598837..153602183,9	K562	blood:
15	chr1:153599154..153601344-chr1:153747056..153749212,2	MCF-7	breast:
16	chr1:153580232..153580795-chr1:153599847..153600360,2	MCF-7	breast:
17	chr1:153538054..153540599-chr1:153598556..153600339,3	K562	blood:
18	chr1:153580167..153581037-chr1:153599715..153600388,2	MCF-7	breast:
19	chr1:153598392..153603036-chr1:153933813..153937554,5	MCF-7	breast:
20	chr1:153599607..153601795-chr12:120727965..120730762,2	MCF-7	breast:

No data

Variant related genes	Relation type
S100A1	TF binding region
S100A13	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000008324	Chromatin interaction
ENSG00000093183	Chromatin interaction
ENSG00000238279	Chromatin interaction
ENSG00000136286	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000196154	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11486185	1.00[AMR][1000 genomes]
rs28444667	1.00[AMR][1000 genomes]
rs57058331	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59005288	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61296485	1.00[AMR][1000 genomes]
rs74115501	1.00[AMR][1000 genomes]
rs74118303	1.00[AMR][1000 genomes]
rs74118304	1.00[AMR][1000 genomes]
rs74118306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118307	1.00[AMR][1000 genomes]
rs74118314	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118317	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9700870	0.90[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153596800-153600400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:153597600-153600600	Enhancers	GM12878-XiMat	blood
3	chr1:153597800-153600800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr1:153598200-153603600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr1:153598400-153600400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:153598400-153600400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:153598600-153600400	Flanking Active TSS	Colonic Mucosa	Colon
8	chr1:153598600-153600400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr1:153598600-153600400	Flanking Active TSS	HUVEC	blood vessel
10	chr1:153598600-153601800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:153598800-153600400	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr1:153598800-153600400	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr1:153598800-153601400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr1:153598800-153601400	Flanking Active TSS	K562	blood
15	chr1:153598800-153602200	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr1:153598800-153602400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:153599000-153600400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:153599000-153600400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:153599200-153600400	Flanking Active TSS	NHEK	skin
20	chr1:153599400-153600400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:153599400-153600400	Enhancers	Primary B cells from cord blood	blood
22	chr1:153599400-153600800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:153599600-153600400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:153599600-153600800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:153599600-153600800	Weak transcription	Spleen	Spleen
26	chr1:153599800-153600400	Flanking Active TSS	HSMM	muscle
27	chr1:153599800-153600400	Flanking Active TSS	Osteobl	bone
28	chr1:153600000-153600400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:153600000-153600400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr1:153600000-153600400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:153600000-153600400	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr1:153600000-153600400	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr1:153600000-153600400	Enhancers	Fetal Lung	lung
34	chr1:153600000-153600400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:153600000-153600400	Flanking Active TSS	A549	lung
36	chr1:153600000-153600400	Flanking Active TSS	HMEC	breast
37	chr1:153600000-153600400	Flanking Active TSS	NHLF	lung
38	chr1:153600000-153600600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr1:153600000-153600800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:153600000-153600800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:153600000-153601000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:153600000-153601000	Weak transcription	Psoas Muscle	Psoas
43	chr1:153600000-153601600	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:153600000-153601800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:153600000-153602600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:153600000-153602600	Enhancers	Fetal Thymus	thymus
47	chr1:153600000-153603200	Enhancers	Lung	lung
48	chr1:153600000-153604200	Enhancers	Fetal Heart	heart
49	chr1:153600000-153605600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:153600000-153605800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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