Variant report

Variant	rs57990658
Chromosome Location	chr11:71178398-71178399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71177769..71179272-chr11:71180854..71183536,2	K562	blood:
2	chr11:71176264..71179140-chr11:71273245..71275842,2	MCF-7	breast:
3	chr11:71176676..71180057-chr11:71180223..71183173,4	MCF-7	breast:
4	chr11:71177752..71180072-chr11:71184594..71186374,2	K562	blood:

Variant related genes	Relation type
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12270619	0.82[AFR][1000 genomes]
rs12280295	0.82[AFR][1000 genomes]
rs12284909	0.82[AFR][1000 genomes]
rs12286997	0.82[AFR][1000 genomes]
rs56869016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57696920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7131218	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 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	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
3	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
4	chr11:71165800-71178400	Strong transcription	Fetal Stomach	stomach
5	chr11:71165800-71179200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:71165800-71179200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:71165800-71179200	Strong transcription	Fetal Muscle Leg	muscle
8	chr11:71165800-71180400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:71166000-71178400	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:71166000-71178600	Strong transcription	Primary T cells from cord blood	blood
12	chr11:71166000-71178600	Strong transcription	Spleen	Spleen
13	chr11:71166000-71179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:71166000-71180000	Strong transcription	A549	lung
15	chr11:71166000-71180200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:71166000-71180200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
18	chr11:71166200-71178400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:71166200-71178400	Strong transcription	Thymus	Thymus
20	chr11:71166200-71178600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:71166200-71178600	Strong transcription	Lung	lung
22	chr11:71166200-71178600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr11:71166200-71178800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:71166200-71178800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr11:71166200-71179000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:71166200-71179000	Strong transcription	Adipose Nuclei	Adipose
27	chr11:71166200-71179400	Strong transcription	Liver	Liver
28	chr11:71166200-71179600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:71166200-71179800	Strong transcription	Primary B cells from cord blood	blood
30	chr11:71166200-71180000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:71166200-71180000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:71166200-71180000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:71166200-71180400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:71166400-71178400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:71166400-71179000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr11:71166400-71179200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:71166400-71179200	Strong transcription	Fetal Intestine Large	intestine
38	chr11:71166400-71180400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:71166600-71179200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:71166800-71178400	Strong transcription	GM12878-XiMat	blood
41	chr11:71167200-71179800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:71167400-71194000	Weak transcription	Fetal Kidney	kidney
43	chr11:71168800-71178400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:71168800-71179000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr11:71170200-71179400	Strong transcription	Placenta	Placenta
46	chr11:71170400-71178400	Strong transcription	Gastric	stomach
47	chr11:71170400-71178800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:71170600-71178800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:71170600-71184600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:71170600-71187600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links