Variant report

Variant	rs11997726
Chromosome Location	chr8:121820804-121820805
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	HEY1	chr8:121820697-121826988	HepG2	liver:	n/a	n/a
2	RAD21	chr8:121820788-121821305	MCF-7	breast:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
3	ZNF143	chr8:121820734-121821214	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr8:121820769-121821267	H1-hESC	embryonic stem cell:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
5	CTCF	chr8:121820776-121821262	HepG2	liver:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
6	ARID3A	chr8:121820764-121822910	HepG2	liver:	n/a	n/a
7	YY1	chr8:121820795-121821093	HCT-116	colon:	n/a	n/a
8	CTCF	chr8:121820660-121820810	Hela-S3	cervix:	n/a	n/a
9	TEAD4	chr8:121820600-121823717	HepG2	liver:	n/a	n/a
10	RAD21	chr8:121820749-121821316	A549	lung:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
11	RAD21	chr8:121820804-121821297	A549	lung:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
12	MBD4	chr8:121820544-121823336	HepG2	liver:	n/a	n/a
13	SMC3	chr8:121820765-121821538	HepG2	liver:	n/a	chr8:121821033-121821043 chr8:121821029-121821043
14	TEAD4	chr8:121820722-121821104	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:121820609-121823747	HepG2	liver:	n/a	n/a
16	EP300	chr8:121820796-121821222	HepG2	liver:	n/a	n/a
17	RAD21	chr8:121820792-121821309	HCT-116	colon:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
18	TBP	chr8:121820803-121822876	GM12878	blood:	n/a	n/a
19	NFIC	chr8:121820705-121823691	HepG2	liver:	n/a	n/a
20	RAD21	chr8:121820636-121821414	SK-N-SH	brain:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
21	SMC3	chr8:121820636-121821841	SK-N-SH	brain:	n/a	chr8:121821033-121821043 chr8:121821029-121821043
22	RAD21	chr8:121820769-121821302	ECC-1	luminal epithelium:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
23	EP300	chr8:121820767-121821234	HepG2	liver:	n/a	n/a
24	RAD21	chr8:121820739-121821312	MCF-7	breast:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
25	ATF2	chr8:121820670-121821206	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr8:121820742-121821382	HCT-116	colon:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
27	CTCF	chr8:121820755-121821245	GM12878	blood:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
28	HEY1	chr8:121820462-121821667	HepG2	liver:	n/a	n/a
29	FOXA2	chr8:121820666-121822764	HepG2	liver:	n/a	n/a
30	POLR2A	chr8:121820347-121826968	HepG2	liver:	n/a	n/a
31	CTCF	chr8:121820778-121821340	MCF-7	breast:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
32	POU5F1	chr8:121820786-121821091	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr8:121820537-121821681	A549	lung:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
34	CTCF	chr8:121820738-121821345	MCF-7	breast:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
35	POLR2A	chr8:121820451-121826897	HepG2	liver:	n/a	n/a
36	TEAD4	chr8:121820721-121821169	H1-hESC	embryonic stem cell:	n/a	n/a
37	FOXP2	chr8:121820790-121821108	SK-N-MC	brain:	n/a	n/a
38	MYBL2	chr8:121820696-121823771	HepG2	liver:	n/a	n/a
39	FOXA1	chr8:121820793-121821315	HepG2	liver:	n/a	n/a
40	MYBL2	chr8:121820686-121821645	HepG2	liver:	n/a	n/a
41	RAD21	chr8:121820696-121822526	HepG2	liver:	n/a	chr8:121821033-121821043 chr8:121821028-121821047 chr8:121822131-121822145
42	RAD21	chr8:121820777-121821155	SK-N-SH_RA	brain:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
43	RAD21	chr8:121820694-121821385	HCT-116	colon:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
44	RAD21	chr8:121820686-121821505	HepG2	liver:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
45	POLR2A	chr8:121820663-121820938	HepG2	liver:	n/a	n/a
46	CTCF	chr8:121820636-121821428	SK-N-SH	brain:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043

No.	Distal block	Cell Line	Cell type
1	chr8:121820782..121821507-chr8:121968793..121969488,2	MCF-7	breast:
2	chr8:121820504..121821998-chr8:121950958..121951966,14	MCF-7	breast:
3	chr8:121820684..121821811-chr8:121951035..121951836,4	MCF-7	breast:
4	chr8:121777510..121779524-chr8:121820645..121822626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272502	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10094974	1.00[EUR][1000 genomes]
rs10110929	1.00[EUR][1000 genomes]
rs11987096	1.00[EUR][1000 genomes]
rs11987139	1.00[EUR][1000 genomes]
rs11987168	1.00[EUR][1000 genomes]
rs11987295	1.00[EUR][1000 genomes]
rs11994211	1.00[EUR][1000 genomes]
rs12334417	1.00[EUR][1000 genomes]
rs12334422	1.00[EUR][1000 genomes]
rs12334938	1.00[EUR][1000 genomes]
rs12334939	1.00[EUR][1000 genomes]
rs28375696	1.00[EUR][1000 genomes]
rs28680434	1.00[EUR][1000 genomes]
rs28682880	1.00[EUR][1000 genomes]
rs34459319	1.00[EUR][1000 genomes]
rs4545142	1.00[EUR][1000 genomes]
rs57183264	1.00[EUR][1000 genomes]
rs57878111	1.00[EUR][1000 genomes]
rs59631348	1.00[EUR][1000 genomes]
rs60253883	1.00[EUR][1000 genomes]
rs6983952	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985457	0.81[AFR][1000 genomes]
rs6985486	0.81[AFR][1000 genomes]
rs6985550	0.82[AFR][1000 genomes]
rs6990646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323171	1.00[EUR][1000 genomes]
rs73323176	1.00[EUR][1000 genomes]
rs73323186	1.00[EUR][1000 genomes]
rs7459773	1.00[EUR][1000 genomes]
rs7829568	1.00[EUR][1000 genomes]

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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121805600-121821200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:121815000-121822800	Weak transcription	Small Intestine	intestine
3	chr8:121817200-121821200	Weak transcription	Psoas Muscle	Psoas
4	chr8:121817200-121822000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:121818400-121821200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:121819000-121821000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:121819200-121823800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:121819400-121821000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:121819400-121821200	Enhancers	Fetal Stomach	stomach
10	chr8:121819600-121821600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:121819600-121822000	Enhancers	Fetal Lung	lung
12	chr8:121819800-121821000	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:121819800-121821600	Flanking Active TSS	Liver	Liver
14	chr8:121820000-121821400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:121820000-121822000	Weak transcription	Gastric	stomach
16	chr8:121820000-121822000	Weak transcription	Lung	lung
17	chr8:121820000-121822600	Weak transcription	Spleen	Spleen
18	chr8:121820400-121821000	Flanking Active TSS	HepG2	liver
19	chr8:121820400-121821000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr8:121820400-121821200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:121820600-121821000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:121820600-121821000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:121820600-121821000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:121820600-121821000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr8:121820600-121821000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:121820600-121821000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr8:121820600-121821000	Weak transcription	Placenta	Placenta
28	chr8:121820600-121821200	Enhancers	Fetal Thymus	thymus
29	chr8:121820600-121821400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr8:121820600-121821600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:121820600-121821600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr8:121820600-121821600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr8:121820600-121821600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr8:121820600-121821600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr8:121820600-121822000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:121820600-121822600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr8:121820600-121823400	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:121820600-121823400	Flanking Active TSS	GM12878-XiMat	blood
39	chr8:121820600-121824000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr8:121820600-121825000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr8:121820600-121825000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:121820800-121821000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:121820800-121821000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:121820800-121821000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr8:121820800-121821000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr8:121820800-121821000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:121820800-121821000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr8:121820800-121821000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:121820800-121821000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:121820800-121821000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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