Variant report

Variant	rs749397
Chromosome Location	chr14:70344315-70344316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:70344280-70344430	HMEC	breast:	n/a	n/a
2	ZNF143	chr14:70344226-70344550	Hela-S3	cervix:	n/a	n/a
3	FOXA2	chr14:70343180-70344315	HepG2	liver:	n/a	n/a
4	CTCF	chr14:70344314-70344592	A549	lung:	n/a	n/a
5	SMC3	chr14:70344234-70344621	GM12878	blood:	n/a	n/a
6	CTCF	chr14:70344314-70344527	K562	blood:	n/a	n/a
7	CTCF	chr14:70344187-70344694	MCF-7	breast:	n/a	n/a
8	SMC3	chr14:70343483-70344607	HepG2	liver:	n/a	n/a
9	CTCF	chr14:70344192-70344714	HCT-116	colon:	n/a	n/a
10	RAD21	chr14:70344151-70344687	HepG2	liver:	n/a	n/a
11	RAD21	chr14:70344118-70344657	HCT-116	colon:	n/a	n/a
12	SMC3	chr14:70344307-70344495	K562	blood:	n/a	n/a
13	FOS	chr14:70344312-70344485	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr14:70344179-70344722	MCF-7	breast:	n/a	n/a
15	CTCF	chr14:70344117-70344681	HCT-116	colon:	n/a	n/a
16	RAD21	chr14:70344233-70344696	ECC-1	luminal epithelium:	n/a	n/a
17	RCOR1	chr14:70343565-70344900	IMR90	lung:	n/a	n/a
18	RAD21	chr14:70344262-70344590	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr14:70344300-70344450	K562	blood:	n/a	n/a
20	CTCF	chr14:70344300-70344450	HRPEpiC	eye:	n/a	n/a
21	RAD21	chr14:70344011-70344866	SK-N-SH	brain:	n/a	n/a
22	ZNF143	chr14:70344267-70344746	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:70344243-70344608	GM12878	blood:	n/a	n/a
24	ZNF143	chr14:70344287-70344583	GM12878	blood:	n/a	n/a
25	CTCF	chr14:70344284-70344549	Medullo	brain:	n/a	n/a
26	CTCF	chr14:70344269-70344548	HepG2	liver:	n/a	n/a
27	CTCF	chr14:70344306-70344539	GM13977	blood:	n/a	n/a
28	FOS	chr14:70344285-70344584	MCF10A-Er-Src	breast:	n/a	n/a
29	RAD21	chr14:70344242-70344691	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:70344282-70344546	HUVEC	blood vessel:	n/a	n/a
31	SMC3	chr14:70344256-70344622	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr14:70344200-70344350	WI-38	lung:	n/a	n/a
33	CTCF	chr14:70344260-70344410	BJ	skin:	n/a	n/a
34	CTCF	chr14:70344257-70344604	HepG2	liver:	n/a	n/a
35	RCOR1	chr14:70344292-70344577	K562	blood:	n/a	n/a
36	CTCF	chr14:70344313-70344521	LNCaP	prostate:	n/a	n/a
37	CTCF	chr14:70344203-70344618	IMR90	lung:	n/a	n/a
38	CTCF	chr14:70344300-70344450	HPF	lung:	n/a	n/a
39	RAD21	chr14:70344286-70344676	A549	lung:	n/a	n/a
40	CTCF	chr14:70344228-70344620	K562	blood:	n/a	n/a
41	CTCF	chr14:70344298-70344530	A549	lung:	n/a	n/a
42	CTCF	chr14:70344300-70344450	A549	lung:	n/a	n/a
43	CTCF	chr14:70344180-70344330	A549	lung:	n/a	n/a
44	RAD21	chr14:70344229-70344637	SK-N-SH_RA	brain:	n/a	n/a
45	RAD21	chr14:70344258-70344604	H1-hESC	embryonic stem cell:	n/a	n/a
46	RCOR1	chr14:70344233-70344580	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr14:70344289-70344541	GM12878	blood:	n/a	n/a
48	CTCF	chr14:70344298-70344490	K562	blood:	n/a	n/a
49	CTCF	chr14:70344203-70344543	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr14:70344256-70344609	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70343964..70344902-chr14:70495472..70496137,2	MCF-7	breast:
2	chr14:70343652..70344929-chr14:70494172..70494990,6	MCF-7	breast:
3	chr14:70343986..70344899-chr14:70479582..70480411,5	MCF-7	breast:
4	chr14:70344014..70344863-chr14:70479653..70480265,4	MCF-7	breast:

No data

Variant related genes	Relation type
SMOC1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11847221	0.89[ASN][1000 genomes]
rs17107367	0.89[ASN][1000 genomes]
rs17558139	0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1887146	0.90[ASN][1000 genomes]
rs1887147	0.88[ASN][1000 genomes]
rs1887148	0.88[ASN][1000 genomes]
rs1952199	0.95[ASN][1000 genomes]
rs1952200	0.94[ASN][1000 genomes]
rs1958077	0.94[ASN][1000 genomes]
rs55749604	0.94[ASN][1000 genomes]
rs56222421	0.93[ASN][1000 genomes]
rs56403048	0.92[ASN][1000 genomes]
rs66954838	0.90[ASN][1000 genomes]
rs7147790	0.94[ASN][1000 genomes]
rs7155074	0.93[ASN][1000 genomes]
rs7156472	0.94[ASN][1000 genomes]
rs749395	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs749397	SLC10A1	cis	parietal	SCAN
rs749397	TTC9	cis	parietal	SCAN
rs749397	SLC39A9	cis	parietal	SCAN
rs749397	ERH	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70341400-70346200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70342800-70344600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:70342800-70345800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:70343000-70344600	Enhancers	Adipose Nuclei	Adipose
5	chr14:70343000-70344800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:70343000-70344800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:70343200-70344800	Enhancers	Osteobl	bone
8	chr14:70343200-70345000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr14:70343200-70345400	Enhancers	Placenta	Placenta
10	chr14:70343400-70345000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:70343400-70345400	Enhancers	Hela-S3	cervix
12	chr14:70343600-70345400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:70343600-70345600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:70343800-70344800	Enhancers	Lung	lung
15	chr14:70343800-70345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:70343800-70345800	Enhancers	Spleen	Spleen
17	chr14:70344000-70345600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:70344000-70345800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:70344000-70345800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr14:70344000-70346000	Weak transcription	HMEC	breast
21	chr14:70344200-70344600	Enhancers	HepG2	liver
22	chr14:70344200-70345600	Enhancers	Liver	Liver
23	chr14:70344200-70345600	Weak transcription	Pancreas	Pancrea
24	chr14:70344200-70345800	Bivalent Enhancer	Fetal Stomach	stomach
25	chr14:70344200-70345800	Weak transcription	Right Atrium	heart

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