Variant report

Variant	rs10210180
Chromosome Location	chr2:11444690-11444691
allele	G/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	chr2:11444324-11445318	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11434738..11436289-chr2:11444236..11445981,2	K562	blood:
2	chr2:11444512..11447438-chr2:11450182..11452688,2	K562	blood:
3	chr2:11443856..11445730-chr2:11445772..11448144,2	K562	blood:

Variant related genes	Relation type
ENSG00000230154	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]
rs10168273	1.00[AFR][1000 genomes]
rs10187792	1.00[AFR][1000 genomes]
rs10202636	1.00[AFR][1000 genomes]
rs10202739	1.00[AFR][1000 genomes]
rs13393890	1.00[AFR][1000 genomes]
rs13398467	1.00[AFR][1000 genomes]
rs13409112	1.00[AFR][1000 genomes]
rs72789506	1.00[AFR][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:50 , 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	chr2:11429000-11444800	Weak transcription	Left Ventricle	heart
5	chr2:11433200-11445600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:11433200-11446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:11433600-11446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:11433600-11448000	Weak transcription	Right Ventricle	heart
9	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:11440000-11445800	Weak transcription	Liver	Liver
11	chr2:11440200-11446000	Weak transcription	A549	lung
12	chr2:11441000-11445800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:11442200-11446000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:11442800-11447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:11443000-11445200	Enhancers	K562	blood
16	chr2:11443200-11446400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:11443400-11445000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:11443400-11446400	Enhancers	Ovary	ovary
19	chr2:11443400-11447200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:11443400-11447200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:11443600-11445600	Weak transcription	Fetal Intestine Small	intestine
22	chr2:11443600-11445600	Weak transcription	Osteobl	bone
23	chr2:11443600-11446000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:11443600-11446600	Weak transcription	Fetal Intestine Large	intestine
25	chr2:11443600-11446800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:11443600-11447000	Enhancers	Adipose Nuclei	Adipose
27	chr2:11443800-11444800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:11443800-11444800	Weak transcription	Spleen	Spleen
29	chr2:11443800-11444800	Weak transcription	HSMM	muscle
30	chr2:11443800-11445600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:11443800-11449400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:11444000-11444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:11444000-11444800	Enhancers	HepG2	liver
34	chr2:11444000-11445400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:11444000-11445600	Weak transcription	Brain Angular Gyrus	brain
36	chr2:11444000-11445600	Weak transcription	Fetal Heart	heart
37	chr2:11444000-11447400	Enhancers	Colon Smooth Muscle	Colon
38	chr2:11444000-11449800	Weak transcription	Aorta	Aorta
39	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:11444200-11447400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:11444400-11445200	Enhancers	Psoas Muscle	Psoas
42	chr2:11444400-11445800	Enhancers	Right Atrium	heart
43	chr2:11444400-11446000	Weak transcription	Fetal Lung	lung
44	chr2:11444400-11446400	Enhancers	Small Intestine	intestine
45	chr2:11444600-11444800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:11444600-11445000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr2:11444600-11445200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr2:11444600-11446800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:11444600-11447000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:11444600-11447800	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links