Variant report

Variant	rs13150997
Chromosome Location	chr4:175143493-175143494
allele	C/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	RAD21	chr4:175143389-175143872	A549	lung:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
2	CTCF	chr4:175143368-175143718	K562	blood:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
3	CTCF	chr4:175143474-175143874	MCF-7	breast:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
4	CTCF	chr4:175143440-175143590	HFF-Myc	foreskin:	n/a	n/a
5	RAD21	chr4:175143432-175143736	K562	blood:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
6	SMC3	chr4:175143434-175143903	HepG2	liver:	n/a	chr4:175143602-175143616
7	RAD21	chr4:175143397-175143703	H1-hESC	embryonic stem cell:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
8	CTCF	chr4:175143413-175143769	K562	blood:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
9	CTCF	chr4:175143452-175143729	Spleen_OC	spleen:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
10	RAD21	chr4:175143471-175143699	HepG2	liver:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
11	CTCF	chr4:175143457-175143750	Medullo	brain:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
12	RAD21	chr4:175143437-175143790	SK-N-SH_RA	brain:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
13	CTCF	chr4:175143254-175144021	A549	lung:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
14	RAD21	chr4:175143206-175144180	SK-N-SH	brain:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
15	CTCF	chr4:175143374-175143734	H1-hESC	embryonic stem cell:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
16	RAD21	chr4:175143355-175143905	HCT-116	colon:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
17	RFX5	chr4:175143445-175143761	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr4:175143437-175143785	A549	lung:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
19	RAD21	chr4:175143460-175143698	GM12878	blood:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
20	CTCF	chr4:175143435-175143836	A549	lung:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
21	CTCF	chr4:175143475-175143740	HUVEC	blood vessel:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
22	CTCF	chr4:175143457-175143715	LNCaP	prostate:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
23	CTCF	chr4:175143472-175143717	Gliobla	brain:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
24	MYC	chr4:175143458-175143636	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr4:175143374-175143812	SK-N-SH_RA	brain:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
26	CTCF	chr4:175143433-175143764	ECC-1	luminal epithelium:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
27	SMC3	chr4:175143344-175143858	GM12878	blood:	n/a	chr4:175143602-175143616
28	RAD21	chr4:175143460-175143837	ECC-1	luminal epithelium:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
29	CTCF	chr4:175143460-175143610	WI-38	lung:	n/a	n/a
30	SETDB1	chr4:175143444-175143874	U2OS	brain:	n/a	n/a
31	EBF1	chr4:175143469-175143639	GM12878	blood:	n/a	n/a
32	CTCF	chr4:175143380-175143823	IMR90	lung:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
33	YY1	chr4:175143425-175143769	SK-N-SH_RA	brain:	n/a	n/a
34	RAD21	chr4:175143282-175143936	HCT-116	colon:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
35	YY1	chr4:175143492-175143746	H1-hESC	embryonic stem cell:	n/a	n/a
36	SMC3	chr4:175143420-175143845	Hela-S3	cervix:	n/a	chr4:175143602-175143616
37	CTCF	chr4:175143480-175143630	AG09309	skin:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
38	RAD21	chr4:175143453-175143828	H1-hESC	embryonic stem cell:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
39	RAD21	chr4:175143439-175143774	MCF-7	breast:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
40	RAD21	chr4:175143337-175143890	ECC-1	luminal epithelium:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
41	RAD21	chr4:175143441-175143797	H1-hESC	embryonic stem cell:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
42	RAD21	chr4:175143417-175144072	IMR90	lung:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
43	CTCF	chr4:175143482-175143724	MCF-7	breast:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
44	CTCF	chr4:175143425-175143698	ECC-1	luminal epithelium:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
45	ZNF143	chr4:175143423-175143782	GM12878	blood:	n/a	chr4:175143482-175143491
46	RAD21	chr4:175143445-175143784	GM12878	blood:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
47	RAD21	chr4:175143355-175143866	A549	lung:	n/a	chr4:175143601-175143620 chr4:175143602-175143611
48	CTCF	chr4:175143365-175143869	HCT-116	colon:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
49	CTCF	chr4:175143452-175143736	K562	blood:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611
50	CTCF	chr4:175143468-175143704	A549	lung:	n/a	chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611

No.	Distal block	Cell Line	Cell type
1	chr4:175126822..175128871-chr4:175141864..175143664,2	K562	blood:
2	chr4:175137442..175140324-chr4:175142017..175143698,2	K562	blood:
3	chr4:175143195..175144498-chr4:175239947..175241349,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248174	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10034021	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133035	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11946728	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13128257	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17291087	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17291128	0.82[EUR][1000 genomes]
rs17291408	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1995749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41279509	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4695915	0.80[EUR][1000 genomes]
rs6553777	0.80[EUR][1000 genomes]
rs6824643	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6851312	0.81[EUR][1000 genomes]
rs7661236	0.82[EUR][1000 genomes]
rs7669484	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13150997	KIAA1712	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175140400-175147200	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:175143400-175143600	Enhancers	Liver	Liver

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