Variant report

Variant	rs72993369
Chromosome Location	chr1:154836418-154836419
allele	A/G
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	NFIC	chr1:154835683-154836685	GM12878	blood:	n/a	n/a
2	MEF2C	chr1:154835875-154836725	GM12878	blood:	n/a	chr1:154836347-154836358 chr1:154836345-154836360 chr1:154836376-154836393 chr1:154836348-154836357
3	ATF2	chr1:154835767-154836825	GM12878	blood:	n/a	n/a
4	MXI1	chr1:154836107-154836699	GM12878	blood:	n/a	n/a
5	TCF12	chr1:154836124-154836481	GM12878	blood:	n/a	n/a
6	RAD21	chr1:154835977-154836500	HCT-116	colon:	n/a	n/a
7	MEF2A	chr1:154835956-154836690	GM12878	blood:	n/a	chr1:154836347-154836358 chr1:154836345-154836360 chr1:154836345-154836360 chr1:154836376-154836393 chr1:154836348-154836357
8	EBF1	chr1:154836116-154836640	GM12878	blood:	n/a	n/a
9	POU2F2	chr1:154836036-154836554	GM12878	blood:	n/a	chr1:154836365-154836377
10	YY1	chr1:154836128-154836681	GM12892	blood:	n/a	n/a
11	POLR2A	chr1:154836166-154836943	GM12892	blood:	n/a	n/a
12	BATF	chr1:154836217-154836544	GM12878	blood:	n/a	chr1:154836424-154836434 chr1:154836423-154836434
13	RAD21	chr1:154836128-154836434	HepG2	liver:	n/a	n/a
14	MAZ	chr1:154835904-154836613	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:154836080-154837467	GM12878	blood:	n/a	n/a
16	BCL3	chr1:154836066-154836559	GM12878	blood:	n/a	n/a
17	YY1	chr1:154836115-154836720	GM12892	blood:	n/a	n/a
18	BCLAF1	chr1:154835985-154836723	GM12878	blood:	n/a	n/a
19	MEF2A	chr1:154836091-154836721	GM12878	blood:	n/a	chr1:154836347-154836358 chr1:154836345-154836360 chr1:154836345-154836360 chr1:154836376-154836393 chr1:154836348-154836357
20	RAD21	chr1:154835985-154836501	H1-hESC	embryonic stem cell:	n/a	n/a
21	IKZF1	chr1:154836072-154836858	GM12878	blood:	n/a	n/a
22	CTCF	chr1:154835993-154836469	K562	blood:	n/a	chr1:154836269-154836278
23	NFATC1	chr1:154835908-154836697	GM12878	blood:	n/a	n/a
24	RUNX3	chr1:154835641-154837019	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:154836133-154837534	GM19193	blood:	n/a	n/a
26	TBP	chr1:154836101-154836672	GM12878	blood:	n/a	n/a
27	EP300	chr1:154836169-154837184	GM12878	blood:	n/a	n/a
28	NFATC1	chr1:154835782-154837178	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:154836197-154836592	GM12878	blood:	n/a	n/a
30	EBF1	chr1:154836038-154837643	GM12878	blood:	n/a	chr1:154837422-154837432 chr1:154837421-154837432
31	SMC3	chr1:154836133-154836442	Hela-S3	cervix:	n/a	n/a
32	EBF1	chr1:154836143-154836607	GM12878	blood:	n/a	n/a
33	FOS	chr1:154836182-154836432	MCF10A-Er-Src	breast:	n/a	n/a
34	BCLAF1	chr1:154836049-154836916	GM12878	blood:	n/a	n/a
35	TCF12	chr1:154836161-154836431	GM12878	blood:	n/a	n/a
36	RAD21	chr1:154836072-154836430	A549	lung:	n/a	n/a
37	RAD21	chr1:154836057-154836590	GM12878	blood:	n/a	n/a
38	SPI1	chr1:154836080-154836537	HL-60	blood:	n/a	n/a
39	JUND	chr1:154836182-154836493	K562	blood:	n/a	n/a
40	CTCF	chr1:154836149-154836453	HepG2	liver:	n/a	chr1:154836269-154836278
41	CEBPB	chr1:154836160-154836460	GM12878	blood:	n/a	n/a
42	RUNX3	chr1:154835828-154837601	GM12878	blood:	n/a	n/a
43	YY1	chr1:154836129-154836744	GM12878	blood:	n/a	n/a
44	MAX	chr1:154836102-154836517	NB4	blood:	n/a	n/a
45	ELF1	chr1:154836044-154836695	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:154836171-154837276	GM12892	blood:	n/a	n/a
47	JUN	chr1:154836214-154836518	K562	blood:	n/a	n/a
48	CTCF	chr1:154836064-154836483	IMR90	lung:	n/a	chr1:154836269-154836278
49	SPI1	chr1:154836140-154836432	GM12891	blood:	n/a	n/a
50	POLR2A	chr1:154836409-154836913	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	chr1:154835876..154837706-chr1:154845124..154847917,3	MCF-7	breast:
4	chr1:154835897..154836702-chr1:154850989..154851642,2	MCF-7	breast:
5	chr1:154835228..154837630-chr1:154839759..154842729,3	MCF-7	breast:
6	chr1:154801371..154804323-chr1:154835493..154837251,2	MCF-7	breast:
7	chr1:154829152..154831379-chr1:154835811..154838261,2	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	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993366	1.00[EUR][1000 genomes]
rs72993370	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:61 , 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	chr1:154831800-154839400	Enhancers	Fetal Thymus	thymus
7	chr1:154832000-154837000	Enhancers	HSMM	muscle
8	chr1:154832200-154836600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:154832400-154840000	Enhancers	K562	blood
10	chr1:154832800-154836600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:154832800-154837800	Enhancers	HSMMtube	muscle
12	chr1:154833000-154836600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:154833000-154839200	Weak transcription	Right Atrium	heart
14	chr1:154833200-154838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:154833200-154839800	Weak transcription	Left Ventricle	heart
16	chr1:154833400-154836600	Weak transcription	Brain Substantia Nigra	brain
17	chr1:154833400-154837200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:154833800-154837400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:154834200-154836800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:154834400-154836800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:154834400-154837000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:154834600-154837400	Enhancers	Fetal Muscle Leg	muscle
23	chr1:154834800-154836800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:154834800-154837000	Weak transcription	Primary B cells from cord blood	blood
25	chr1:154834800-154837400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:154835000-154836600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:154835000-154837800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:154835200-154836600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:154835200-154836600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:154835200-154836800	Enhancers	Right Ventricle	heart
31	chr1:154835400-154836600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:154835400-154837000	Flanking Active TSS	Fetal Brain Female	brain
33	chr1:154835400-154837000	Enhancers	NH-A	brain
34	chr1:154835400-154839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:154835400-154840000	Flanking Active TSS	GM12878-XiMat	blood
36	chr1:154835600-154836600	Weak transcription	Brain Anterior Caudate	brain
37	chr1:154835600-154837000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:154835600-154838200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:154835600-154839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:154835800-154836600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:154835800-154837000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:154835800-154837200	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:154835800-154837400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:154836000-154836600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:154836000-154836800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr1:154836000-154836800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:154836000-154838000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:154836000-154838600	Enhancers	Thymus	Thymus
49	chr1:154836000-154839400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:154836200-154836600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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