Variant report

Variant	rs67259239
Chromosome Location	chr11:73495567-73495568
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	EP300	chr11:73495295-73495711	HepG2	liver:	n/a	chr11:73495551-73495565
2	TAF1	chr11:73495349-73495748	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:73495219-73495907	K562	blood:	n/a	n/a
4	CCNT2	chr11:73495367-73495603	K562	blood:	n/a	n/a
5	ZNF384	chr11:73495175-73496446	K562	blood:	n/a	n/a
6	SMC3	chr11:73495313-73495810	Hela-S3	cervix:	n/a	n/a
7	JUND	chr11:73495243-73495721	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZEB1	chr11:73495119-73495822	HepG2	liver:	n/a	chr11:73495129-73495137
9	MAX	chr11:73495346-73495584	HepG2	liver:	n/a	chr11:73495553-73495562
10	POLR2A	chr11:73495339-73495807	PANC-1	pancreas:	n/a	n/a
11	JUN	chr11:73494522-73496023	K562	blood:	n/a	n/a
12	JUND	chr11:73494852-73495783	Hela-S3	cervix:	n/a	n/a
13	MAZ	chr11:73495361-73495764	HepG2	liver:	n/a	chr11:73495553-73495562
14	MYBL2	chr11:73495197-73495780	HepG2	liver:	n/a	n/a
15	MAX	chr11:73495390-73495676	K562	blood:	n/a	chr11:73495553-73495562
16	RFX5	chr11:73495308-73496187	Hela-S3	cervix:	n/a	n/a
17	JUN	chr11:73495335-73495904	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr11:73494983-73495836	K562	blood:	n/a	n/a
19	MYC	chr11:73495519-73495626	K562	blood:	n/a	chr11:73495553-73495562
20	NFIC	chr11:73495239-73495736	HepG2	liver:	n/a	n/a
21	ZKSCAN1	chr11:73495369-73495688	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr11:73495308-73495725	A549	lung:	n/a	chr11:73495579-73495596
23	JUN	chr11:73495419-73495689	HepG2	liver:	n/a	n/a
24	CEBPB	chr11:73495281-73495697	HepG2	liver:	n/a	chr11:73495579-73495596
25	CEBPB	chr11:73495321-73495665	K562	blood:	n/a	chr11:73495579-73495596
26	JUND	chr11:73495364-73495714	HepG2	liver:	n/a	n/a
27	CEBPB	chr11:73495154-73495850	HCT-116	colon:	n/a	chr11:73495579-73495596
28	MYC	chr11:73495353-73495640	H1-hESC	embryonic stem cell:	n/a	chr11:73495553-73495562
29	TCF7L2	chr11:73495326-73495666	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:73495402-73495649	HepG2	liver:	n/a	chr11:73495579-73495596
31	ELK1	chr11:73495350-73495688	Hela-S3	cervix:	n/a	n/a
32	E2F4	chr11:73495468-73495640	MCF10A-Er-Src	breast:	n/a	n/a
33	SP1	chr11:73495143-73495907	HCT-116	colon:	n/a	n/a
34	KAP1	chr11:73495361-73495649	U2OS	brain:	n/a	n/a
35	SMC3	chr11:73495392-73495730	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:73495245-73495625	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr11:73495244-73495746	HepG2	liver:	n/a	chr11:73495579-73495596
38	HEY1	chr11:73495159-73495845	HepG2	liver:	n/a	n/a
39	JUN	chr11:73495366-73495749	K562	blood:	n/a	n/a
40	HEY1	chr11:73495401-73495657	HepG2	liver:	n/a	n/a
41	TCF7L2	chr11:73495450-73495645	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:73494739-73495841	HepG2	liver:	n/a	n/a
43	ARID3A	chr11:73495348-73495775	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:73495289-73495662	HepG2	liver:	n/a	n/a
45	HEY1	chr11:73495270-73495803	K562	blood:	n/a	n/a
46	POLR2A	chr11:73495187-73495791	HepG2	liver:	n/a	n/a
47	MAFK	chr11:73495349-73495815	Hela-S3	cervix:	n/a	n/a
48	EP300	chr11:73495266-73495771	HepG2	liver:	n/a	chr11:73495551-73495565
49	MYC	chr11:73494722-73495781	K562	blood:	n/a	chr11:73495553-73495562
50	ZC3H11A	chr11:73495467-73495719	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
2	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:

Variant related genes	Relation type
MRPL48	TF binding region
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10501412	0.82[ASN][1000 genomes]
rs11235898	0.92[ASN][1000 genomes]
rs11235905	0.92[ASN][1000 genomes]
rs11235907	0.92[ASN][1000 genomes]
rs11235908	0.92[ASN][1000 genomes]
rs11235910	0.92[ASN][1000 genomes]
rs11235913	0.92[ASN][1000 genomes]
rs11235914	0.92[ASN][1000 genomes]
rs11235915	0.92[ASN][1000 genomes]
rs11235920	0.88[ASN][1000 genomes]
rs11235922	0.86[ASN][1000 genomes]
rs11235925	0.82[ASN][1000 genomes]
rs11235927	0.82[ASN][1000 genomes]
rs12421077	0.81[ASN][1000 genomes]
rs12421900	0.82[ASN][1000 genomes]
rs17132369	0.92[ASN][1000 genomes]
rs17132397	0.81[ASN][1000 genomes]
rs1814547	0.82[ASN][1000 genomes]
rs1869433	0.82[ASN][1000 genomes]
rs4537782	0.81[ASN][1000 genomes]
rs4944034	0.92[ASN][1000 genomes]
rs4944868	0.82[ASN][1000 genomes]
rs55910552	0.92[ASN][1000 genomes]
rs60020777	0.92[ASN][1000 genomes]
rs66610247	0.92[ASN][1000 genomes]
rs7119528	0.88[ASN][1000 genomes]
rs72989228	0.92[ASN][1000 genomes]
rs7929705	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73491000-73498400	Weak transcription	Esophagus	oesophagus
2	chr11:73491000-73498600	Weak transcription	Aorta	Aorta
3	chr11:73491200-73497800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:73491200-73498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:73491200-73498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73491200-73498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:73491200-73498000	Weak transcription	A549	lung
8	chr11:73491200-73498000	Weak transcription	HSMM	muscle
9	chr11:73491200-73498200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:73491200-73498200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:73491200-73498400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:73491200-73498400	Weak transcription	Thymus	Thymus
13	chr11:73491200-73498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:73491400-73498200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:73491400-73498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:73491400-73498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:73491400-73498200	Weak transcription	Adipose Nuclei	Adipose
18	chr11:73491400-73498400	Weak transcription	Primary T cells from cord blood	blood
19	chr11:73491400-73498400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:73491800-73498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:73494000-73496000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:73494200-73495600	Enhancers	Fetal Intestine Large	intestine
23	chr11:73494400-73496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:73494600-73495600	Flanking Active TSS	HepG2	liver
25	chr11:73494800-73495600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr11:73494800-73496600	Enhancers	Hela-S3	cervix
27	chr11:73494800-73497000	Enhancers	K562	blood
28	chr11:73494800-73497800	Enhancers	Dnd41	blood
29	chr11:73495000-73495600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:73495000-73495800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:73495000-73496000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:73495000-73496200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr11:73495200-73495600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:73495200-73496000	Enhancers	NHEK	skin
35	chr11:73495200-73496400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:73495200-73496600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:73495400-73495800	Enhancers	Fetal Thymus	thymus
38	chr11:73495400-73496000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:73495400-73497800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:73495400-73498200	Weak transcription	Fetal Intestine Small	intestine
41	chr11:73495400-73498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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