Variant report

Variant	rs368421
Chromosome Location	chr11:63615586-63615587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63615574-63615598	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63614265..63617185-chr11:63623129..63625400,2	MCF-7	breast:
2	chr11:63613491..63616107-chr11:63702849..63704991,2	MCF-7	breast:
3	chr11:63614156..63616576-chr11:63619519..63621542,3	K562	blood:
4	chr11:63614953..63616808-chr11:63640092..63642061,2	MCF-7	breast:
5	chr11:63613512..63616432-chr11:63669939..63672564,2	MCF-7	breast:
6	chr11:63612581..63617250-chr11:63617280..63622514,6	MCF-7	breast:
7	chr11:63578410..63581843-chr11:63612969..63616771,3	MCF-7	breast:
8	chr11:63610591..63619595-chr11:63634759..63639809,13	MCF-7	breast:
9	chr11:63605094..63609854-chr11:63611414..63617957,11	K562	blood:

No data

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000168005	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1211783	1.00[YRI][hapmap]
rs161053	0.82[YRI][hapmap]
rs224174	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2873628	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4472946	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9326429	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63608400-63618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:63609200-63616600	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:63609400-63618400	Weak transcription	Ovary	ovary
4	chr11:63609600-63619200	Weak transcription	HSMMtube	muscle
5	chr11:63609600-63629600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
7	chr11:63610400-63616600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:63611000-63620200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:63611800-63617400	Strong transcription	Fetal Stomach	stomach
10	chr11:63611800-63629800	Weak transcription	Aorta	Aorta
11	chr11:63612000-63617200	Enhancers	Pancreas	Pancrea
12	chr11:63612000-63618000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:63612600-63616800	Enhancers	Placenta	Placenta
14	chr11:63612600-63618400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:63613000-63618400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:63613000-63618600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:63613000-63622600	Weak transcription	Brain Germinal Matrix	brain
18	chr11:63613200-63616600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:63613200-63625600	Weak transcription	HUVEC	blood vessel
20	chr11:63613200-63626200	Weak transcription	NHLF	lung
21	chr11:63613200-63632400	Weak transcription	Fetal Brain Female	brain
22	chr11:63613200-63633000	Weak transcription	HSMM	muscle
23	chr11:63613400-63617000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:63613400-63618200	Weak transcription	Primary B cells from cord blood	blood
25	chr11:63613400-63618200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:63613400-63618600	Weak transcription	Osteobl	bone
27	chr11:63613400-63619000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:63613400-63619000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:63613600-63615600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:63613600-63615800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:63613600-63616600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:63613600-63618200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:63613600-63618400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:63613600-63619000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:63613800-63616400	Weak transcription	Thymus	Thymus
36	chr11:63613800-63616800	Weak transcription	GM12878-XiMat	blood
37	chr11:63613800-63618200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:63613800-63618400	Weak transcription	K562	blood
39	chr11:63613800-63625400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:63614200-63615800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:63614200-63615800	Enhancers	Left Ventricle	heart
42	chr11:63614200-63616800	Enhancers	Fetal Intestine Large	intestine
43	chr11:63614200-63617000	Enhancers	Esophagus	oesophagus
44	chr11:63614400-63615600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:63614400-63615600	Enhancers	Lung	lung
46	chr11:63614400-63615800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:63614400-63615800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:63614400-63615800	Genic enhancers	Brain Hippocampus Middle	brain
49	chr11:63614400-63615800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:63614400-63615800	Enhancers	HMEC	breast

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