Variant report

Variant	rs72993366
Chromosome Location	chr1:154835394-154835395
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr1:154835161-154835866	GM12878	blood:	n/a	chr1:154835778-154835786 chr1:154835652-154835664
2	EBF1	chr1:154835187-154835591	GM12878	blood:	n/a	n/a
3	KAP1	chr1:154835189-154836544	U2OS	brain:	n/a	n/a
4	MTA3	chr1:154834579-154838314	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154835187..154837273-chr1:154839083..154841729,2	K562	blood:
2	chr1:154829274..154831457-chr1:154833879..154837058,3	K562	blood:
3	chr1:154827805..154830333-chr1:154834809..154836322,2	MCF-7	breast:
4	chr1:154835228..154837630-chr1:154839759..154842729,3	MCF-7	breast:
5	chr1:154832792..154836317-chr1:154841340..154844437,3	K562	blood:

Variant related genes	Relation type
KCNN3	TF binding region
ENSG00000143603	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12059540	1.00[EUR][1000 genomes]
rs12063335	1.00[EUR][1000 genomes]
rs12067954	1.00[EUR][1000 genomes]
rs60537431	1.00[EUR][1000 genomes]
rs6692661	1.00[EUR][1000 genomes]
rs72993369	1.00[EUR][1000 genomes]
rs72993370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993373	1.00[EUR][1000 genomes]
rs72993374	1.00[EUR][1000 genomes]
rs72993402	0.85[EUR][1000 genomes]
rs72995417	1.00[EUR][1000 genomes]
rs72995418	1.00[EUR][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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432964	chr1:154820067-154849590	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154821000-154837200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:154822600-154838000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:154827600-154839400	Enhancers	Fetal Brain Male	brain
4	chr1:154831200-154839800	Enhancers	Psoas Muscle	Psoas
5	chr1:154831400-154839400	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:154831800-154835800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:154831800-154839400	Enhancers	Fetal Thymus	thymus
8	chr1:154832000-154837000	Enhancers	HSMM	muscle
9	chr1:154832200-154836600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:154832400-154840000	Enhancers	K562	blood
11	chr1:154832800-154835400	Enhancers	Fetal Brain Female	brain
12	chr1:154832800-154835800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:154832800-154836600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:154832800-154837800	Enhancers	HSMMtube	muscle
15	chr1:154833000-154836600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:154833000-154839200	Weak transcription	Right Atrium	heart
17	chr1:154833200-154835400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:154833200-154835400	Weak transcription	NH-A	brain
19	chr1:154833200-154838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:154833200-154839800	Weak transcription	Left Ventricle	heart
21	chr1:154833400-154835800	Weak transcription	Brain Germinal Matrix	brain
22	chr1:154833400-154836200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:154833400-154836400	Weak transcription	Lung	lung
24	chr1:154833400-154836600	Weak transcription	Brain Substantia Nigra	brain
25	chr1:154833400-154837200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:154833800-154837400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:154834000-154836000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:154834200-154835400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:154834200-154836200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:154834200-154836800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:154834400-154835800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr1:154834400-154836400	Weak transcription	Spleen	Spleen
33	chr1:154834400-154836800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:154834400-154837000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:154834600-154837400	Enhancers	Fetal Muscle Leg	muscle
36	chr1:154834800-154835400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:154834800-154836800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:154834800-154837000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:154834800-154837400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:154835000-154835400	Enhancers	GM12878-XiMat	blood
41	chr1:154835000-154835800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:154835000-154836000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:154835000-154836000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:154835000-154836000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr1:154835000-154836000	Weak transcription	Thymus	Thymus
46	chr1:154835000-154836200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr1:154835000-154836600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:154835000-154837800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:154835200-154835400	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr1:154835200-154835400	Bivalent Enhancer	HMEC	breast

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