Variant report

Variant	rs73981589
Chromosome Location	chr2:188318115-188318116
allele	A/C
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	CTCF	chr2:188317772-188318271	GM12878	blood:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
2	RAD21	chr2:188317839-188318130	GM12878	blood:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
3	RAD21	chr2:188317764-188318205	H1-hESC	embryonic stem cell:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
4	RAD21	chr2:188317768-188318166	Hela-S3	cervix:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
5	SMC3	chr2:188317801-188318158	HepG2	liver:	n/a	chr2:188317983-188317997
6	RAD21	chr2:188317777-188318131	ECC-1	luminal epithelium:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
7	CTCF	chr2:188318080-188318230	HCT-116	colon:	n/a	n/a
8	RAD21	chr2:188317685-188318172	H1-hESC	embryonic stem cell:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
9	RAD21	chr2:188317679-188318135	ECC-1	luminal epithelium:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
10	CTCF	chr2:188317875-188318120	Medullo	brain:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
11	CTCF	chr2:188317980-188318130	NHEK	skin:	n/a	chr2:188317981-188317999 chr2:188317982-188317998 chr2:188317986-188317994
12	CTCF	chr2:188317980-188318130	HA-sp	spinal cord:	n/a	chr2:188317981-188317999 chr2:188317982-188317998 chr2:188317986-188317994
13	JUN	chr2:188318077-188318367	HepG2	liver:	n/a	n/a
14	ZNF143	chr2:188317809-188318116	GM12878	blood:	n/a	n/a
15	CTCF	chr2:188318020-188318170	BJ	skin:	n/a	n/a
16	ZNF143	chr2:188317829-188318160	K562	blood:	n/a	n/a
17	CTCF	chr2:188317794-188318255	HCT-116	colon:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
18	CTCF	chr2:188318040-188318190	HCM	heart:	n/a	n/a
19	CTCF	chr2:188317776-188318176	K562	blood:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
20	RAD21	chr2:188317657-188318289	HCT-116	colon:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
21	RAD21	chr2:188317687-188318200	SK-N-SH_RA	brain:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
22	CTCF	chr2:188317847-188318142	K562	blood:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
23	SMC3	chr2:188317735-188318220	GM12878	blood:	n/a	chr2:188317983-188317997
24	CTCF	chr2:188317779-188318198	MCF-7	breast:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
25	CTCF	chr2:188318000-188318150	RPTEC	kidney:	n/a	n/a
26	RAD21	chr2:188317718-188318220	A549	lung:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
27	RAD21	chr2:188317775-188318156	HepG2	liver:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
28	CTCF	chr2:188317769-188318201	IMR90	lung:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
29	RAD21	chr2:188317644-188318290	MCF-7	breast:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
30	RAD21	chr2:188317644-188318203	HepG2	liver:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
31	CTCF	chr2:188317572-188318287	SK-N-SH	brain:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
32	RAD21	chr2:188317772-188318171	GM12878	blood:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
33	RAD21	chr2:188317795-188318146	GM12878	blood:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
34	RAD21	chr2:188317837-188318141	K562	blood:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
35	ARID3A	chr2:188317827-188318187	K562	blood:	n/a	n/a
36	CTCF	chr2:188317606-188318628	A549	lung:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
37	RAD21	chr2:188317777-188318217	A549	lung:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
38	SMC3	chr2:188317642-188318215	SK-N-SH	brain:	n/a	chr2:188317983-188317997
39	RAD21	chr2:188317757-188318173	IMR90	lung:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
40	SMC3	chr2:188317863-188318159	K562	blood:	n/a	chr2:188317983-188317997
41	RAD21	chr2:188317788-188318259	MCF-7	breast:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
42	RAD21	chr2:188317796-188318115	H1-hESC	embryonic stem cell:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
43	CTCF	chr2:188317789-188318139	HepG2	liver:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
44	SMC3	chr2:188317773-188318162	Hela-S3	cervix:	n/a	chr2:188317983-188317997
45	RAD21	chr2:188317765-188318163	SK-N-SH_RA	brain:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
46	CTCF	chr2:188317865-188318124	MCF-7	breast:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
47	CTCF	chr2:188317661-188318279	HCT-116	colon:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994
48	RAD21	chr2:188317688-188318221	HCT-116	colon:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
49	RAD21	chr2:188317608-188318873	SK-N-SH	brain:	n/a	chr2:188317982-188317994 chr2:188317979-188317998
50	CTCF	chr2:188317762-188318123	A549	lung:	n/a	chr2:188317981-188317999 chr2:188317976-188317997 chr2:188317982-188317998 chr2:188317986-188317994

No.	Distal block	Cell Line	Cell type
1	chr2:188316887..188320656-chr2:188322905..188325832,3	K562	blood:
2	chr2:188163616..188164504-chr2:188317553..188318396,2	MCF-7	breast:
3	chr2:187727496..187728175-chr2:188317935..188318450,2	K562	blood:

Variant related genes	Relation type
CALCRL	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56371082	1.00[AFR][1000 genomes]
rs73980732	1.00[AFR][1000 genomes]
rs73981580	1.00[AFR][1000 genomes]
rs73981584	1.00[AFR][1000 genomes]
rs73981587	1.00[AFR][1000 genomes]
rs73981588	1.00[AFR][1000 genomes]
rs8176513	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv1011800	chr2:188301324-188340396	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv459989	chr2:188308640-188318187	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv584037	chr2:188308640-188318187	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188313000-188326200	Weak transcription	Right Ventricle	heart
2	chr2:188313400-188340000	Weak transcription	Fetal Brain Male	brain
3	chr2:188313600-188330400	Weak transcription	Muscle Satellite Cultured Cells	--

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