Variant report

Variant	rs74118447
Chromosome Location	chr1:155295713-155295714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:155291862-155295746	IMR90	lung:	n/a	n/a
2	POLR2A	chr1:155295385-155295768	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:155294846-155296433	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:155295653-155295806	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:155295037-155295975	ProgFib	skin:	n/a	n/a
6	POLR2A	chr1:155295011-155295744	GM12891	blood:	n/a	n/a
7	ZNF263	chr1:155293833-155296271	HEK293-T-REx	kidney:	n/a	chr1:155295575-155295596
8	POLR2A	chr1:155292575-155297035	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr1:155292556-155295917	U87	brain:	n/a	n/a
10	POLR2A	chr1:155295586-155295811	K562	blood:	n/a	n/a
11	POLR2A	chr1:155295692-155296346	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:155295005-155296374	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:155292744-155298116	PANC-1	pancreas:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155213005..155216511-chr1:155292470..155296220,4	K562	blood:
2	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
3	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
4	chr1:155236269..155241954-chr1:155291931..155295779,5	K562	blood:
5	chr1:155212049..155215843-chr1:155293307..155296856,5	MCF-7	breast:
6	chr1:155237070..155244636-chr1:155291827..155295779,11	K562	blood:
7	chr1:155240682..155244991-chr1:155289682..155296120,12	MCF-7	breast:
8	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
9	chr1:155177540..155179890-chr1:155292109..155295871,3	K562	blood:
10	chr1:155175738..155179299-chr1:155291621..155295870,7	K562	blood:
11	chr1:155290527..155292224-chr1:155295529..155298147,2	K562	blood:
12	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
13	chr1:155223788..155226914-chr1:155293518..155296850,4	K562	blood:
14	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
15	chr1:155239314..155245036-chr1:155288379..155297041,21	MCF-7	breast:
16	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
17	chr1:155295465..155297431-chr1:155299858..155302436,2	K562	blood:
18	chr1:155220177..155222368-chr1:155294459..155296606,2	K562	blood:
19	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:
20	chr1:155293486..155295874-chr17:62223276..62225460,2	MCF-7	breast:
21	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:

No data

Variant related genes	Relation type
RUSC1-AS1	TF binding region
ENSG00000163462	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000163463	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000116521	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34869594	1.00[AMR][1000 genomes]
rs41264235	1.00[AMR][1000 genomes]
rs57041449	1.00[AMR][1000 genomes]
rs57075171	1.00[AMR][1000 genomes]
rs72997138	1.00[AMR][1000 genomes]
rs72997142	1.00[AMR][1000 genomes]
rs74118437	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118442	1.00[AMR][1000 genomes]
rs74118444	1.00[AMR][1000 genomes]
rs74118445	1.00[AMR][1000 genomes]
rs74118446	1.00[AMR][1000 genomes]
rs74118448	1.00[AMR][1000 genomes]
rs74118475	1.00[AMR][1000 genomes]
rs8177962	1.00[AMR][1000 genomes]
rs8177967	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	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	407 gene(s)	inside rSNPs	diseases
5	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
6	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
8	nsv946413	chr1:155286949-155296660	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155290600-155295800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:155292400-155295800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:155292400-155295800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:155292600-155296000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:155293600-155295800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:155293800-155296600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:155294200-155296200	Enhancers	Fetal Brain Male	brain
8	chr1:155294200-155296400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
9	chr1:155294400-155295800	Flanking Active TSS	HMEC	breast
10	chr1:155294600-155295800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr1:155294800-155299800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:155294800-155299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:155295000-155295800	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:155295000-155295800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:155295000-155295800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:155295000-155295800	Flanking Active TSS	HSMM	muscle
17	chr1:155295000-155296000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:155295000-155296000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:155295000-155296000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:155295000-155296000	Weak transcription	Brain Angular Gyrus	brain
21	chr1:155295000-155299800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:155295000-155299800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:155295000-155300000	Weak transcription	Aorta	Aorta
24	chr1:155295000-155307000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:155295000-155307000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:155295200-155295800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:155295200-155295800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:155295200-155295800	Flanking Active TSS	K562	blood
29	chr1:155295200-155295800	Transcr. at gene 5' and 3'	NHLF	lung
30	chr1:155295200-155296000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:155295200-155296000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr1:155295200-155296000	Enhancers	Stomach Mucosa	stomach
33	chr1:155295200-155296200	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:155295200-155296200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:155295200-155296200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:155295200-155296200	Enhancers	Fetal Heart	heart
37	chr1:155295200-155296400	Weak transcription	Thymus	Thymus
38	chr1:155295200-155297200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:155295200-155299800	Weak transcription	Primary B cells from cord blood	blood
40	chr1:155295200-155299800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:155295200-155299800	Weak transcription	Liver	Liver
42	chr1:155295200-155306000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:155295400-155295800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:155295400-155295800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:155295400-155295800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
46	chr1:155295400-155295800	Enhancers	Fetal Lung	lung
47	chr1:155295400-155295800	Flanking Active TSS	A549	lung
48	chr1:155295400-155295800	Transcr. at gene 5' and 3'	NHEK	skin
49	chr1:155295400-155296000	Enhancers	Colon Smooth Muscle	Colon
50	chr1:155295400-155296000	Genic enhancers	Fetal Muscle Leg	muscle

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