Variant report

Variant	rs5030121
Chromosome Location	chr11:32458440-32458441
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:32458320-32458470	HPAF	blood vessel:	n/a	n/a
2	POLR2A	chr11:32458391-32461056	H1-neurons	neurons:	n/a	n/a
3	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
4	SETDB1	chr11:32457138-32458796	K562	blood:	n/a	n/a
5	CTBP2	chr11:32457051-32458830	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr11:32458258-32458528	NB4	blood:	n/a	n/a
7	MAX	chr11:32454143-32458628	NB4	blood:	n/a	chr11:32457467-32457477
8	CTCF	chr11:32458300-32458450	HPAF	blood vessel:	n/a	n/a
9	SUZ12	chr11:32453771-32458890	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:32458208-32461069	H1-neurons	neurons:	n/a	n/a
11	CTCF	chr11:32458360-32458510	HCM	heart:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
2	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32458341-32458597	ENSG00000183242
2	lnc-EIF3M-2	chr11:32457585-32460136	NONHSAT018664

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11031782	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34250829	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34712216	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36106678	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5030158	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59090256	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105964	0.91[AMR][1000 genomes];0.87[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32453400-32459600	Active TSS	Right Atrium	heart
2	chr11:32454600-32458600	Bivalent/Poised TSS	Left Ventricle	heart
3	chr11:32454600-32458800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr11:32454600-32459800	Active TSS	Ovary	ovary
5	chr11:32454800-32458600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr11:32455000-32459400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr11:32455800-32459000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:32456000-32458600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:32456000-32458600	Bivalent Enhancer	Lung	lung
10	chr11:32456200-32458600	Enhancers	Gastric	stomach
11	chr11:32456400-32458600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
12	chr11:32456400-32459000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
13	chr11:32456800-32458800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr11:32456800-32459600	Active TSS	Right Ventricle	heart
15	chr11:32456800-32460400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr11:32457000-32462600	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr11:32457200-32458600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:32457200-32458600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr11:32457200-32460600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:32457200-32461000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:32457400-32458600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:32457400-32458800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
23	chr11:32457400-32458800	Bivalent Enhancer	Brain Substantia Nigra	brain
24	chr11:32457400-32459400	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr11:32457400-32460000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:32457600-32458600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr11:32457600-32459400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:32457600-32460800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr11:32457800-32458800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
30	chr11:32457800-32459000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr11:32458000-32458600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr11:32458000-32459000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
33	chr11:32458000-32459000	Bivalent Enhancer	Liver	Liver
34	chr11:32458000-32459400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:32458000-32459400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:32458000-32459400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:32458000-32459400	Enhancers	Spleen	Spleen
38	chr11:32458000-32460600	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr11:32458200-32458600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:32458200-32458600	Weak transcription	Pancreas	Pancrea
41	chr11:32458200-32458800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:32458200-32459000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
43	chr11:32458200-32459400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:32458200-32459400	Bivalent Enhancer	Fetal Thymus	thymus
45	chr11:32458200-32459800	Bivalent Enhancer	Fetal Stomach	stomach
46	chr11:32458200-32460400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
47	chr11:32458200-32460600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
48	chr11:32458400-32458600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
49	chr11:32458400-32459200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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