Variant report

Variant	rs7598990
Chromosome Location	chr2:11443570-11443571
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	TBL1XR1	chr2:11443567-11444126	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11436411..11439216-chr2:11442275..11444665,2	K562	blood:
2	chr2:11436708..11439216-chr2:11441108..11443775,3	K562	blood:

Variant related genes	Relation type
ENSG00000230154	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4497845	1.00[EUR][1000 genomes]
rs6714757	1.00[EUR][1000 genomes]
rs6744190	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177266	1.00[EUR][1000 genomes]
rs73177268	1.00[EUR][1000 genomes]
rs73177271	1.00[EUR][1000 genomes]
rs73177275	1.00[EUR][1000 genomes]
rs7576515	1.00[EUR][1000 genomes]
rs7585679	1.00[EUR][1000 genomes]
rs7594466	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11426000-11444800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:11426600-11446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:11428800-11444200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:11429000-11444800	Weak transcription	Left Ventricle	heart
6	chr2:11433200-11445600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:11433200-11446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:11433400-11443600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:11433600-11444600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:11433600-11446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:11433600-11448000	Weak transcription	Right Ventricle	heart
12	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:11440000-11445800	Weak transcription	Liver	Liver
14	chr2:11440200-11446000	Weak transcription	A549	lung
15	chr2:11440400-11444000	Weak transcription	HepG2	liver
16	chr2:11441000-11445800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:11442200-11446000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:11442800-11447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:11443000-11443600	Enhancers	Fetal Intestine Large	intestine
20	chr2:11443000-11443600	Enhancers	Fetal Intestine Small	intestine
21	chr2:11443000-11443800	Enhancers	Brain Anterior Caudate	brain
22	chr2:11443000-11445200	Enhancers	K562	blood
23	chr2:11443200-11444000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:11443200-11444000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:11443200-11444000	Enhancers	Fetal Heart	heart
26	chr2:11443200-11444000	Enhancers	Psoas Muscle	Psoas
27	chr2:11443200-11446400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:11443400-11443600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:11443400-11443600	Enhancers	Colon Smooth Muscle	Colon
30	chr2:11443400-11443600	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:11443400-11443600	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:11443400-11443600	Enhancers	Osteobl	bone
33	chr2:11443400-11443800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:11443400-11443800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:11443400-11443800	Enhancers	Spleen	Spleen
36	chr2:11443400-11443800	Enhancers	HSMM	muscle
37	chr2:11443400-11444000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:11443400-11444000	Enhancers	Aorta	Aorta
39	chr2:11443400-11444000	Enhancers	Brain Angular Gyrus	brain
40	chr2:11443400-11444000	Enhancers	Right Atrium	heart
41	chr2:11443400-11444400	Weak transcription	Thymus	Thymus
42	chr2:11443400-11445000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:11443400-11446400	Enhancers	Ovary	ovary
44	chr2:11443400-11447200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:11443400-11447200	Enhancers	Skeletal Muscle Female	skeletal muscle

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