Variant report

Variant	rs4992797
Chromosome Location	chr11:5702333-5702334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5033143-5038367..11:5700314-5707362	K562	blood:
2	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
3	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000224300	Chromatin interaction
ENSG00000231070	Chromatin interaction
ENSG00000176951	Chromatin interaction
ENSG00000225003	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11038702	0.87[EUR][1000 genomes]
rs12164821	0.81[ASN][1000 genomes]
rs12278842	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12285766	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12287199	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12799127	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12799329	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12800585	0.81[EUR][1000 genomes]
rs12801311	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498553	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1498555	0.88[ASN][1000 genomes]
rs1814722	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2133256	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2343227	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2343229	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2880576	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3207178	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34506684	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34720081	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3802980	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3802981	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4514451	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4564369	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4575305	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4992798	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4992799	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4992801	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4992802	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61363160	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6578674	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6578675	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6578676	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6578677	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67656732	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122886	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7123417	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7127617	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127767	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896948	chr11:5701281-5719667	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv10293	chr11:5701758-5702533	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
2	chr11:5684000-5705400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:5684200-5705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:5684600-5703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:5685400-5705400	Weak transcription	Stomach Mucosa	stomach
6	chr11:5688000-5705600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5691000-5705000	Weak transcription	Hela-S3	cervix
8	chr11:5691000-5705400	Weak transcription	Fetal Brain Male	brain
9	chr11:5694200-5705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:5696000-5705200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:5697000-5705600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:5698200-5705400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:5698600-5702400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:5698800-5702400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:5698800-5702400	Strong transcription	Fetal Lung	lung
16	chr11:5698800-5702400	ZNF genes & repeats	GM12878-XiMat	blood
17	chr11:5698800-5702400	Strong transcription	HUVEC	blood vessel
18	chr11:5698800-5702600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:5698800-5702600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:5698800-5702600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr11:5698800-5702600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:5698800-5703800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:5698800-5704000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:5699000-5702400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:5699000-5702400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:5699000-5702400	Strong transcription	NHLF	lung
27	chr11:5699000-5702600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:5699000-5702600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:5699000-5702600	Strong transcription	Primary T cells from cord blood	blood
30	chr11:5699600-5702600	Strong transcription	Primary B cells from cord blood	blood
31	chr11:5699600-5702800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:5699800-5702400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:5699800-5703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:5700000-5705200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:5700200-5703600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:5700200-5704000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:5700200-5705400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:5700200-5705400	Weak transcription	HepG2	liver
39	chr11:5700400-5704400	Weak transcription	Colonic Mucosa	Colon
40	chr11:5700400-5705200	Weak transcription	Fetal Kidney	kidney
41	chr11:5700400-5705200	Weak transcription	K562	blood
42	chr11:5700400-5705400	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:5700600-5705400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:5700600-5705400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:5700600-5705600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:5700800-5703600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:5700800-5705200	Weak transcription	Small Intestine	intestine
48	chr11:5701000-5705400	Weak transcription	NHDF-Ad	bronchial
49	chr11:5701200-5702400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:5701200-5703600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links