Variant report

Variant	rs1622368
Chromosome Location	chr11:65294223-65294224
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	chr11:65294108-65294629	K562	blood:	n/a	n/a
2	POLR2A	chr11:65294107-65294423	HepG2	liver:	n/a	n/a
3	CHD1	chr11:65292523-65294236	IMR90	lung:	n/a	chr11:65292860-65292870

No.	Distal block	Cell Line	Cell type
1	chr11:65292702..65295176-chr11:65381785..65383528,2	MCF-7	breast:
2	chr11:64876667..64879055-chr11:65292718..65294570,2	K562	blood:
3	chr11:65185186..65203592-chr11:65286522..65299399,55	K562	blood:

Variant related genes	Relation type
SCYL1	TF binding region
ENSG00000173327	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000149823	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1151542	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1194099	1.00[ASN][1000 genomes]
rs17146971	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs56883526	0.83[ASN][1000 genomes]
rs60236485	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73497102	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73499008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73499015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927113	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
6	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
7	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
8	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
9	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
10	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
11	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
12	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
13	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription 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 miRNA target site	961 gene(s)	inside rSNPs	diseases
14	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
15	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
16	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
17	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
18	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65293000-65294600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65293200-65294400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:65293400-65294400	Enhancers	Primary T cells from cord blood	blood
4	chr11:65293400-65294400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr11:65293400-65294400	Genic enhancers	Spleen	Spleen
6	chr11:65293400-65296400	Weak transcription	Aorta	Aorta
7	chr11:65293600-65294400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:65293600-65294400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:65293600-65294400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr11:65293600-65294400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65293600-65294400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:65293600-65294400	Genic enhancers	Fetal Intestine Small	intestine
13	chr11:65293600-65294400	Genic enhancers	Fetal Stomach	stomach
14	chr11:65293600-65294400	Genic enhancers	Fetal Thymus	thymus
15	chr11:65293600-65294400	Genic enhancers	Right Ventricle	heart
16	chr11:65293600-65294400	Flanking Active TSS	HepG2	liver
17	chr11:65293600-65294600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:65293600-65294600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:65293600-65294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:65293600-65294600	Genic enhancers	Placenta	Placenta
21	chr11:65293600-65294600	Genic enhancers	Gastric	stomach
22	chr11:65293600-65294800	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr11:65293600-65294800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:65293600-65294800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:65293600-65295000	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr11:65293600-65297400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:65293600-65297600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:65293600-65297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:65293600-65297800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:65293600-65299000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:65293600-65300200	Weak transcription	Psoas Muscle	Psoas
32	chr11:65293600-65305600	Weak transcription	Right Atrium	heart
33	chr11:65293600-65307600	Weak transcription	Small Intestine	intestine
34	chr11:65293800-65294400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:65293800-65294400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
36	chr11:65293800-65294400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:65293800-65294400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
38	chr11:65293800-65294400	Weak transcription	Brain Substantia Nigra	brain
39	chr11:65293800-65294400	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
40	chr11:65293800-65294400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:65293800-65294400	Weak transcription	HSMMtube	muscle
42	chr11:65293800-65294600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:65293800-65294600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:65293800-65294600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:65293800-65294600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:65293800-65294600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:65293800-65294600	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr11:65293800-65294800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:65293800-65294800	Genic enhancers	K562	blood
50	chr11:65293800-65295400	Strong transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links