Variant report

Variant	rs6591423
Chromosome Location	chr11:57176111-57176112
allele	C/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	POLR2A	chr11:57175325-57176420	K562	blood:	n/a	n/a
2	POLR2A	chr11:57176091-57178228	HL-60	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC43A3-1	chr11:57174427-57176222	NONHSAT021411

Variant related genes	Relation type
ENSG00000254979	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11229032	1.00[ASN][1000 genomes]
rs521889	1.00[GIH][hapmap]
rs536455	1.00[GIH][hapmap]
rs60959144	1.00[ASN][1000 genomes]
rs630396	1.00[GIH][hapmap]
rs6591424	1.00[GIH][hapmap]
rs667864	1.00[GIH][hapmap]
rs7125786	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57167400-57188200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57168000-57176600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:57170200-57191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:57170400-57176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:57171000-57184800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:57171800-57177200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:57172000-57185000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:57172600-57178000	Strong transcription	Primary T cells from cord blood	blood
9	chr11:57172600-57178000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:57172600-57178200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:57172600-57178200	Genic enhancers	GM12878-XiMat	blood
12	chr11:57172600-57180000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:57172600-57189800	Strong transcription	Dnd41	blood
14	chr11:57172800-57178400	Strong transcription	Thymus	Thymus
15	chr11:57172800-57179200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:57172800-57185000	Weak transcription	NH-A	brain
17	chr11:57173000-57177400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:57173000-57178200	Strong transcription	Aorta	Aorta
19	chr11:57173000-57179200	Strong transcription	Fetal Stomach	stomach
20	chr11:57173000-57192800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:57173200-57176200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:57173200-57178200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:57173200-57184400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:57173200-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:57173200-57191400	Strong transcription	Fetal Thymus	thymus
26	chr11:57173400-57176600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:57173400-57182200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:57173400-57182800	Weak transcription	Small Intestine	intestine
29	chr11:57173600-57176800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:57173600-57177600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:57173600-57185600	Strong transcription	HMEC	breast
32	chr11:57173800-57176200	Enhancers	Placenta	Placenta
33	chr11:57173800-57178000	Strong transcription	Gastric	stomach
34	chr11:57174000-57179200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:57174200-57176200	Weak transcription	Brain Anterior Caudate	brain
36	chr11:57174200-57177400	Genic enhancers	Primary hematopoietic stem cells	blood
37	chr11:57174200-57178200	Strong transcription	Brain Germinal Matrix	brain
38	chr11:57174200-57178200	Strong transcription	Esophagus	oesophagus
39	chr11:57174200-57179000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:57174200-57179200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr11:57174200-57184800	Weak transcription	Psoas Muscle	Psoas
42	chr11:57174200-57186200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:57174200-57189400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:57174200-57191800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:57174400-57176800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:57174400-57177600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr11:57174400-57178600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:57174400-57183800	Weak transcription	Fetal Brain Male	brain
49	chr11:57174400-57185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:57174600-57176600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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