Variant report

Variant	rs57943769
Chromosome Location	chr11:4719173-4719174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:4718885-4719197	IMR90	lung:	n/a	n/a
2	RAD21	chr11:4718890-4719176	H1-hESC	embryonic stem cell:	n/a	chr11:4718950-4718960
3	RAD21	chr11:4718795-4719183	H1-hESC	embryonic stem cell:	n/a	chr11:4718950-4718960
4	STAT3	chr11:4718920-4719250	MCF10A-Er-Src	breast:	n/a	chr11:4719074-4719082 chr11:4719059-4719082 chr11:4719072-4719083
5	FOS	chr11:4719069-4719206	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr11:4718906-4719175	MCF10A-Er-Src	breast:	n/a	chr11:4719074-4719082 chr11:4719059-4719082 chr11:4719072-4719083
7	CEBPB	chr11:4718940-4719281	IMR90	lung:	n/a	chr11:4719120-4719133
8	RAD21	chr11:4718821-4719215	IMR90	lung:	n/a	chr11:4718950-4718960
9	STAT3	chr11:4718975-4719199	MCF10A-Er-Src	breast:	n/a	chr11:4719074-4719082 chr11:4719059-4719082 chr11:4719072-4719083
10	RAD21	chr11:4718814-4719203	H1-hESC	embryonic stem cell:	n/a	chr11:4718950-4718960

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4719138-4719188	HNPCEpiC	eye:	n/a
2	chr11:4719138-4719188	AG10803	skin:	n/a
3	chr11:4719138-4719188	MCF10A-Er-Src	breast:	n/a
4	chr11:4719138-4719188	PFSK-1	brain:	n/a
5	chr11:4719138-4719188	CMK	blood:	n/a
6	chr11:4719138-4719188	SK-N-SH	brain:	n/a
7	chr11:4719138-4719188	SKMC	muscle:	n/a
8	chr11:4719138-4719188	NHDF-neo	bronchial:	n/a
9	chr11:4719138-4719188	HepG2	liver:	n/a
10	chr11:4719138-4719188	GM12892	blood:	n/a
11	chr11:4719138-4719188	Jurkat	blood:	n/a
12	chr11:4719138-4719188	K562	blood:	n/a
13	chr11:4719138-4719188	RPTEC	kidney:	n/a
14	chr11:4719138-4719188	AG09309	skin:	n/a
15	chr11:4719138-4719188	SK-N-SH_RA	brain:	n/a
16	chr11:4719138-4719188	HCF	heart:	n/a
17	chr11:4719138-4719188	T-47D	breast:	n/a
18	chr11:4719138-4719188	BE2_C	brain:	n/a
19	chr11:4719138-4719188	HCT-116	colon:	n/a
20	chr11:4719138-4719188	H1-hESC	embryonic stem cell:	embryo
21	chr11:4719138-4719188	U87	brain:	n/a
22	chr11:4719138-4719188	LNCaP	prostate:	n/a
23	chr11:4719138-4719188	AoSMC	blood vessel:	n/a
24	chr11:4719138-4719188	AG04449	skin:	fetal
25	chr11:4719138-4719188	A549	lung:	n/a
26	chr11:4719138-4719188	GM12891	blood:	n/a
27	chr11:4719138-4719188	NHBE	bronchial:	n/a
28	chr11:4719138-4719188	HMEC	breast:	n/a
29	chr11:4719138-4719188	NH-A	brain:	n/a
30	chr11:4719138-4719188	MCF-7	breast:	n/a
31	chr11:4719138-4719188	PrEC	prostate:	n/a
32	chr11:4719138-4719188	HEEpiC	esophagus:	n/a
33	chr11:4719138-4719188	SK-N-MC	brain:	n/a
34	chr11:4719138-4719188	HEK293	kidney:	embryo
35	chr11:4719138-4719188	GM19239	blood:	n/a
36	chr11:4719138-4719188	HL-60	blood:	n/a
37	chr11:4719138-4719188	GM06990	blood:	n/a
38	chr11:4719138-4719188	HIPEpiC	eye:	n/a
39	chr11:4719138-4719188	BJ	skin:	n/a
40	chr11:4719138-4719188	HRE	kidney:	n/a
41	chr11:4719138-4719188	Caco-2	colon:	n/a
42	chr11:4719138-4719188	ECC-1	luminal epithelium:	n/a
43	chr11:4719138-4719188	HCPEpiC	choroid plexus:	n/a
44	chr11:4719138-4719188	GM12878	blood:	n/a
45	chr11:4719138-4719188	ProgFib	skin:	n/a
46	chr11:4719138-4719188	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:4719138-4719188	SAEC	small airway:	n/a
48	chr11:4719138-4719188	HRCEpiC	kidney:	n/a
49	chr11:4719138-4719188	PANC-1	pancreas:	n/a
50	chr11:4719138-4719188	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
OR51E2	TF binding region
OR51E2	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55819711	0.96[AFR][1000 genomes]
rs57324092	0.88[AFR][1000 genomes]
rs74052047	0.85[AFR][1000 genomes]
rs74052049	0.88[AFR][1000 genomes]
rs74052051	0.88[AFR][1000 genomes]
rs74052056	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv896915	chr11:4659419-4844393	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv832056	chr11:4673001-4824890	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1046486	chr11:4697151-4741730	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
12	nsv896916	chr11:4712353-4806872	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr11:4718800-4719600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:4719000-4719400	Enhancers	Rectal Smooth Muscle	rectum
3	chr11:4719000-4720200	Enhancers	Colon Smooth Muscle	Colon

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