Variant report

Variant	rs2234582
Chromosome Location	chr11:32456694-32456695
allele	G/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	SPI1	chr11:32456624-32457357	HL-60	blood:	n/a	chr11:32456894-32456901 chr11:32456893-32456902
2	POLR2A	chr11:32455696-32457733	PFSK-1	brain:	n/a	n/a
3	MAX	chr11:32456535-32457698	ECC-1	luminal epithelium:	n/a	chr11:32457467-32457477
4	POLR2A	chr11:32456497-32456942	A549	lung:	n/a	n/a
5	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
6	JUN	chr11:32453532-32456818	K562	blood:	n/a	chr11:32453717-32453725
7	CTBP2	chr11:32454448-32456818	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:32455132-32457736	K562	blood:	n/a	n/a
9	MAX	chr11:32454537-32457687	K562	blood:	n/a	chr11:32457467-32457477
10	MAX	chr11:32455170-32457723	K562	blood:	n/a	chr11:32457467-32457477
11	TAF1	chr11:32456669-32456933	K562	blood:	n/a	n/a
12	POLR2A	chr11:32456533-32456934	A549	lung:	n/a	n/a
13	MYC	chr11:32455256-32457710	NB4	blood:	n/a	chr11:32457467-32457477
14	CHD2	chr11:32456081-32456766	K562	blood:	n/a	n/a
15	ZBTB7A	chr11:32456442-32456694	K562	blood:	n/a	n/a
16	HEY1	chr11:32455651-32456948	K562	blood:	n/a	chr11:32456092-32456107 chr11:32456933-32456948 chr11:32456201-32456216
17	MAX	chr11:32455989-32457631	A549	lung:	n/a	chr11:32457467-32457477
18	HNF4A	chr11:32456381-32456743	HepG2	liver:	n/a	chr11:32456561-32456576
19	HDAC2	chr11:32456382-32456713	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:32456289-32456696	HepG2	liver:	n/a	n/a
21	E2F6	chr11:32456057-32457617	A549	lung:	n/a	chr11:32457491-32457503 chr11:32456933-32456943 chr11:32456097-32456107 chr11:32457008-32457017
22	MAX	chr11:32455940-32457708	A549	lung:	n/a	chr11:32457467-32457477
23	MAX	chr11:32454143-32458628	NB4	blood:	n/a	chr11:32457467-32457477
24	MYC	chr11:32455104-32457646	K562	blood:	n/a	chr11:32457467-32457477
25	ZNF263	chr11:32455573-32457559	HEK293-T-REx	kidney:	n/a	chr11:32456089-32456098
26	SIN3AK20	chr11:32456597-32456965	K562	blood:	n/a	n/a
27	TBL1XR1	chr11:32456663-32456808	K562	blood:	n/a	n/a
28	POLR2A	chr11:32453980-32457577	K562	blood:	n/a	n/a
29	YY1	chr11:32456496-32456800	HepG2	liver:	n/a	n/a
30	YY1	chr11:32455903-32456917	K562	blood:	n/a	chr11:32456093-32456104
31	SUZ12	chr11:32453771-32458890	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:32454161-32457678	K562	blood:	n/a	n/a
33	POLR2A	chr11:32455366-32457646	HL-60	blood:	n/a	n/a
34	MAX	chr11:32456691-32456974	K562	blood:	n/a	n/a
35	MAZ	chr11:32456660-32457649	K562	blood:	n/a	chr11:32457467-32457477
36	HEY1	chr11:32455141-32456962	K562	blood:	n/a	chr11:32456092-32456107 chr11:32456933-32456948 chr11:32456201-32456216
37	TBP	chr11:32453973-32457616	K562	blood:	n/a	n/a
38	POLR2A	chr11:32454208-32457616	K562	blood:	n/a	n/a
39	MAX	chr11:32456150-32456974	HepG2	liver:	n/a	n/a
40	MAX	chr11:32456033-32457519	ECC-1	luminal epithelium:	n/a	chr11:32457467-32457477
41	HMGN3	chr11:32454773-32457488	K562	blood:	n/a	n/a
42	POLR2A	chr11:32456583-32456955	K562	blood:	n/a	n/a
43	POLR2A	chr11:32453512-32457942	NB4	blood:	n/a	n/a
44	ELF1	chr11:32456491-32456922	K562	blood:	n/a	n/a
45	RCOR1	chr11:32456688-32456789	K562	blood:	n/a	n/a
46	MYC	chr11:32454126-32457534	K562	blood:	n/a	chr11:32457467-32457477
47	POLR2A	chr11:32456658-32458173	PFSK-1	brain:	n/a	n/a
48	HCFC1	chr11:32455926-32456820	K562	blood:	n/a	n/a
49	POLR2A	chr11:32453842-32457744	K562	blood:	n/a	n/a
50	POLR2A	chr11:32454637-32457626	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:32455369..32457971-chr11:32914210..32916339,2	K562	blood:
2	chr11:32455883..32456817-chr20:34329968..34330790,2	NB4	blood:
3	chr11:32455462..32457058-chr11:32608687..32611459,2	K562	blood:
4	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
5	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:

Variant related genes	Relation type
WT1	TF binding region
WT1-AS	TF binding region
ENSG00000060749	Chromatin interaction
ENSG00000149100	Chromatin interaction
ENSG00000131051	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11031779	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293603	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1799933	0.87[AFR][1000 genomes]
rs4258351	0.86[ASN][1000 genomes]
rs4986811	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5030157	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5030166	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5030172	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72893517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7936152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32450200-32457400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:32453400-32459600	Active TSS	Right Atrium	heart
3	chr11:32454600-32456800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
4	chr11:32454600-32457000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:32454600-32458600	Bivalent/Poised TSS	Left Ventricle	heart
6	chr11:32454600-32458800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr11:32454600-32459800	Active TSS	Ovary	ovary
8	chr11:32454800-32457800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:32454800-32457800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:32454800-32458200	Bivalent Enhancer	Esophagus	oesophagus
11	chr11:32454800-32458600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr11:32455000-32457400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr11:32455000-32459400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr11:32455200-32457200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr11:32455200-32458200	Enhancers	Pancreas	Pancrea
16	chr11:32455600-32456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr11:32455600-32456800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr11:32455600-32457200	Active TSS	A549	lung
19	chr11:32455800-32457000	Bivalent Enhancer	Fetal Brain Male	brain
20	chr11:32455800-32457200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:32455800-32457200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr11:32455800-32457200	Active TSS	K562	blood
23	chr11:32455800-32458000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr11:32455800-32459000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:32456000-32457200	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr11:32456000-32457200	Bivalent/Poised TSS	HepG2	liver
27	chr11:32456000-32457400	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr11:32456000-32457400	Bivalent Enhancer	Placenta	Placenta
29	chr11:32456000-32457600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:32456000-32458600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:32456000-32458600	Bivalent Enhancer	Lung	lung
32	chr11:32456200-32456800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr11:32456200-32457000	Active TSS	Fetal Kidney	kidney
34	chr11:32456200-32458200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:32456200-32458600	Enhancers	Gastric	stomach
36	chr11:32456400-32457000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:32456400-32457200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr11:32456400-32457200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:32456400-32457200	Enhancers	Liver	Liver
40	chr11:32456400-32457200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
41	chr11:32456400-32457200	Bivalent Enhancer	Fetal Thymus	thymus
42	chr11:32456400-32457400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr11:32456400-32457400	Bivalent Enhancer	HMEC	breast
44	chr11:32456400-32457600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:32456400-32457600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr11:32456400-32457600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr11:32456400-32458400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr11:32456400-32458600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr11:32456400-32459000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
50	chr11:32456600-32456800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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