Variant report

Variant	rs2298446
Chromosome Location	chr11:66031745-66031746
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	POLR2A	chr11:66031464-66031916	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:66030046-66032249	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:66028607-66032213	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:66030228-66031888	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:66030012-66031895	K562	blood:	n/a	n/a
6	POLR2A	chr11:66029786-66032664	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:66031694-66032405	A549	lung:	n/a	n/a
8	POLR2A	chr11:66030756-66032059	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:66031400-66032195	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:66030040-66032279	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:66031393-66032272	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr11:66030733-66032161	GM12878	blood:	n/a	n/a
13	ZNF263	chr11:66031604-66031801	HEK293-T-REx	kidney:	n/a	n/a
14	POLR2A	chr11:66029943-66032287	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66012440..66015378-chr11:66030566..66033034,2	K562	blood:
2	chr11:65878909..65881654-chr11:66029706..66032681,2	K562	blood:
3	chr11:66029401..66032337-chr11:66048852..66051047,2	MCF-7	breast:

Variant related genes	Relation type
RAB1B	TF binding region
ENSG00000254461	TF binding region
ENSG00000174871	Chromatin interaction
ENSG00000255320	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11227393	1.00[EUR][1000 genomes]
rs11227396	1.00[EUR][1000 genomes]
rs11227405	0.87[ASN][1000 genomes]
rs12575852	1.00[EUR][1000 genomes]
rs12576136	1.00[ASN][1000 genomes]
rs12576868	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12577589	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2139968	0.95[ASN][1000 genomes]
rs35188698	1.00[EUR][1000 genomes]
rs3814743	1.00[EUR][1000 genomes]
rs471203	0.90[ASN][1000 genomes]
rs4930169	1.00[EUR][1000 genomes]
rs58244723	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943794	1.00[EUR][1000 genomes]
rs9787882	1.00[EUR][1000 genomes];0.87[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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66026200-66034200	Weak transcription	Right Atrium	heart
2	chr11:66026200-66035200	Weak transcription	Small Intestine	intestine
3	chr11:66026400-66034400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:66026400-66034400	Weak transcription	Psoas Muscle	Psoas
5	chr11:66026400-66034800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:66026400-66034800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:66026600-66032400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:66026600-66032600	Strong transcription	K562	blood
9	chr11:66026600-66034000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:66026600-66034000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:66026600-66034000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:66026600-66034000	Weak transcription	Fetal Heart	heart
13	chr11:66026600-66034000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:66026600-66034000	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:66026600-66034000	Strong transcription	NHLF	lung
16	chr11:66026600-66034200	Strong transcription	Right Ventricle	heart
17	chr11:66026600-66034400	Weak transcription	HUVEC	blood vessel
18	chr11:66026600-66034800	Weak transcription	HepG2	liver
19	chr11:66026600-66035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:66026800-66032400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:66026800-66033200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:66026800-66033200	Strong transcription	Colon Smooth Muscle	Colon
23	chr11:66026800-66033400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:66026800-66033400	Strong transcription	Placenta	Placenta
25	chr11:66026800-66033400	Strong transcription	Fetal Stomach	stomach
26	chr11:66026800-66033800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:66026800-66033800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:66026800-66034000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:66026800-66034000	Strong transcription	Fetal Intestine Small	intestine
30	chr11:66026800-66034000	Strong transcription	Lung	lung
31	chr11:66026800-66034000	Strong transcription	A549	lung
32	chr11:66026800-66034200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:66026800-66034200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:66026800-66034200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:66026800-66034200	Strong transcription	Fetal Intestine Large	intestine
36	chr11:66026800-66034400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:66026800-66034400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66026800-66034400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:66026800-66034400	Weak transcription	Fetal Kidney	kidney
40	chr11:66026800-66034600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:66026800-66034600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:66027000-66032400	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:66027000-66032600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:66027000-66032600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:66027000-66033400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:66027000-66034000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:66027000-66034000	Strong transcription	Brain Anterior Caudate	brain
48	chr11:66027000-66034000	Strong transcription	Brain Cingulate Gyrus	brain
49	chr11:66027000-66034200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:66027000-66034200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links