Variant report

Variant	rs4796141
Chromosome Location	chr17:34274213-34274214
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	IRF4	chr17:34274003-34274560	GM12878	blood:	n/a	n/a
2	TEAD4	chr17:34274119-34274493	HepG2	liver:	n/a	n/a
3	CTCF	chr17:34274180-34274330	HCFaa	heart:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
4	CTCF	chr17:34274200-34274350	AG09309	skin:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
5	CTCF	chr17:34274200-34274350	Hela-S3	cervix:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
6	CTCF	chr17:34273893-34274680	SK-N-SH	brain:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
7	RAD21	chr17:34274164-34274469	SK-N-SH_RA	brain:	n/a	chr17:34274288-34274307
8	SP1	chr17:34274187-34274535	H1-hESC	embryonic stem cell:	n/a	n/a
9	SRF	chr17:34274161-34274354	GM12878	blood:	n/a	n/a
10	CTCF	chr17:34274200-34274350	GM12870	blood:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
11	CTCF	chr17:34273859-34274693	A549	lung:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
12	CTCF	chr17:34274200-34274350	AoAF	blood vessel:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
13	CTCF	chr17:34274088-34274412	H1-hESC	embryonic stem cell:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
14	YY1	chr17:34274156-34274368	HCT-116	colon:	n/a	n/a
15	ELF1	chr17:34274159-34274404	HepG2	liver:	n/a	chr17:34274313-34274326 chr17:34274314-34274325 chr17:34274245-34274256
16	CTCF	chr17:34274200-34274350	GM06990	blood:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
17	RAD21	chr17:34274161-34274466	K562	blood:	n/a	chr17:34274288-34274307
18	CTCF	chr17:34274138-34274435	MCF-7	breast:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
19	SMC3	chr17:34274120-34274482	K562	blood:	n/a	chr17:34274289-34274303
20	RAD21	chr17:34273892-34274715	SK-N-SH	brain:	n/a	chr17:34274288-34274307
21	CTCF	chr17:34274200-34274350	AG10803	skin:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
22	ZNF143	chr17:34274114-34274485	GM12878	blood:	n/a	n/a
23	CTCF	chr17:34274200-34274350	SK-N-SH_RA	brain:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
24	TEAD4	chr17:34274190-34274435	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr17:34274200-34274350	GM12874	blood:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
26	CTCF	chr17:34274127-34274437	Spleen_OC	spleen:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
27	CTCF	chr17:34274139-34274454	HepG2	liver:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
28	CTCF	chr17:34274091-34274436	A549	lung:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
29	CTCF	chr17:34274099-34274506	GM12878	blood:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
30	SMC3	chr17:34274108-34274497	Hela-S3	cervix:	n/a	chr17:34274289-34274303
31	CTCF	chr17:34274146-34274442	NHEK	skin:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
32	CTCF	chr17:34274152-34274422	GM10266	blood:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
33	RAD21	chr17:34274136-34274469	A549	lung:	n/a	chr17:34274288-34274307
34	CTCF	chr17:34274130-34274527	MCF-7	breast:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
35	USF1	chr17:34274124-34274381	A549	lung:	n/a	n/a
36	ELF1	chr17:34274130-34274469	K562	blood:	n/a	chr17:34274313-34274326 chr17:34274314-34274325 chr17:34274245-34274256
37	RAD21	chr17:34274033-34274513	ECC-1	luminal epithelium:	n/a	chr17:34274288-34274307
38	CTCF	chr17:34274167-34274426	HepG2	liver:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
39	ELF1	chr17:34274100-34274459	A549	lung:	n/a	chr17:34274313-34274326 chr17:34274314-34274325 chr17:34274245-34274256
40	RCOR1	chr17:34274113-34274418	K562	blood:	n/a	n/a
41	SPI1	chr17:34274011-34274519	GM12891	blood:	n/a	chr17:34274314-34274327 chr17:34274313-34274326 chr17:34274243-34274256 chr17:34274317-34274324 chr17:34274245-34274254 chr17:34274167-34274180 chr17:34274244-34274257
42	CTCF	chr17:34274107-34274476	IMR90	lung:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
43	RAD21	chr17:34274112-34274500	GM12878	blood:	n/a	chr17:34274288-34274307
44	MYC	chr17:34274141-34274403	K562	blood:	n/a	n/a
45	RAD21	chr17:34274007-34274545	A549	lung:	n/a	chr17:34274288-34274307
46	CTCF	chr17:34274200-34274350	HRPEpiC	eye:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
47	RAD21	chr17:34274129-34274533	HepG2	liver:	n/a	chr17:34274288-34274307
48	CTCF	chr17:34274200-34274350	HEEpiC	esophagus:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
49	RAD21	chr17:34274014-34274686	HCT-116	colon:	n/a	chr17:34274288-34274307
50	CTCF	chr17:34274186-34274399	HepG2	liver:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310

No.	Distal block	Cell Line	Cell type
1	chr17:34273841..34274524-chr17:34476056..34476996,4	MCF-7	breast:
2	chr17:34264862..34267825-chr17:34271764..34274325,3	K562	blood:
3	chr17:34176149..34176744-chr17:34274080..34274771,2	K562	blood:
4	chr17:34274196..34274787-chr17:34302700..34303672,2	K562	blood:

Variant related genes	Relation type
LYZL6	TF binding region
ENSG00000161572	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2526332	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2702959	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2735497	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2735498	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4796139	0.88[ASN][1000 genomes]
rs4796140	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1062125	chr17:34266309-34442620	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34270600-34280400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:34271600-34274400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr17:34271800-34274400	Weak transcription	K562	blood
4	chr17:34272200-34274400	Weak transcription	Fetal Intestine Large	intestine
5	chr17:34273800-34274600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr17:34273800-34274600	Enhancers	Fetal Intestine Small	intestine
7	chr17:34273800-34275000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:34273800-34275200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:34274000-34274600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:34274000-34274600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr17:34274200-34274400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:34274200-34274400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:34274200-34274400	Enhancers	Liver	Liver
14	chr17:34274200-34274400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr17:34274200-34274400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr17:34274200-34274400	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr17:34274200-34274400	Flanking Active TSS	HMEC	breast
18	chr17:34274200-34274400	Enhancers	NH-A	brain
19	chr17:34274200-34274400	Active TSS	Osteobl	bone
20	chr17:34274200-34274600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:34274200-34274600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr17:34274200-34274600	Enhancers	Primary B cells from peripheral blood	blood
23	chr17:34274200-34274600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:34274200-34274600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr17:34274200-34274600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr17:34274200-34274600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:34274200-34274600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:34274200-34274600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:34274200-34274600	Active TSS	Colonic Mucosa	Colon
30	chr17:34274200-34274600	Active TSS	Ovary	ovary
31	chr17:34274200-34274600	Active TSS	Pancreas	Pancrea
32	chr17:34274200-34274600	Enhancers	GM12878-XiMat	blood
33	chr17:34274200-34274600	Active TSS	HepG2	liver
34	chr17:34274200-34274800	Active TSS	A549	lung
35	chr17:34274200-34275600	Active TSS	Hela-S3	cervix

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