Variant report

Variant	rs13387502
Chromosome Location	chr2:180127626-180127627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180127590..180133149-chr2:180134052..180141026,12	MCF-7	breast:
2	chr2:180127231..180129754-chr2:180137790..180140822,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237477	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10172589	0.85[ASN][1000 genomes]
rs10176828	0.85[ASN][1000 genomes]
rs10208882	0.85[ASN][1000 genomes]
rs10209875	0.90[ASN][1000 genomes]
rs10210749	0.81[ASN][1000 genomes]
rs10221811	0.85[ASN][1000 genomes]
rs12328593	0.85[ASN][1000 genomes]
rs12618724	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12622434	0.85[ASN][1000 genomes]
rs13391187	0.85[ASN][1000 genomes]
rs13395559	0.85[ASN][1000 genomes]
rs13408774	1.00[ASN][1000 genomes]
rs13412820	0.81[ASN][1000 genomes]
rs13417112	0.90[ASN][1000 genomes]
rs13422693	0.85[ASN][1000 genomes]
rs13424092	0.80[ASN][1000 genomes]
rs13429191	1.00[ASN][1000 genomes]
rs35041512	0.90[ASN][1000 genomes]
rs7588135	0.81[ASN][1000 genomes]
rs7601965	0.85[ASN][1000 genomes]
rs7608106	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180102800-180127800	Weak transcription	Psoas Muscle	Psoas
2	chr2:180118800-180128200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:180119400-180128200	Weak transcription	Pancreas	Pancrea
4	chr2:180123800-180127800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:180123800-180127800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:180123800-180128000	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:180125400-180128000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:180125400-180128200	Weak transcription	Left Ventricle	heart
9	chr2:180125400-180128200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:180126200-180127800	Weak transcription	Stomach Mucosa	stomach
11	chr2:180126400-180128600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:180126400-180130200	Active TSS	Stomach Smooth Muscle	stomach
13	chr2:180126600-180127800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:180126600-180128200	Enhancers	Liver	Liver
15	chr2:180127000-180127800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:180127000-180128000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:180127000-180128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:180127000-180128200	Active TSS	HepG2	liver
19	chr2:180127200-180127800	Enhancers	Fetal Lung	lung
20	chr2:180127200-180128200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:180127200-180128200	Weak transcription	Small Intestine	intestine
22	chr2:180127200-180128400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:180127200-180129600	Active TSS	HMEC	breast
24	chr2:180127200-180129800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:180127400-180127800	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:180127400-180127800	Enhancers	Brain Angular Gyrus	brain
27	chr2:180127400-180127800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:180127400-180127800	Enhancers	Brain Substantia Nigra	brain
29	chr2:180127400-180127800	Flanking Active TSS	Fetal Brain Female	brain
30	chr2:180127400-180127800	Flanking Active TSS	Fetal Kidney	kidney
31	chr2:180127400-180127800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr2:180127400-180128000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:180127400-180128000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr2:180127400-180128000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:180127400-180128000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr2:180127400-180128400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr2:180127400-180128400	Flanking Active TSS	HUVEC	blood vessel
38	chr2:180127400-180128600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:180127400-180128600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr2:180127400-180128600	Flanking Active TSS	Osteobl	bone
41	chr2:180127600-180127800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr2:180127600-180127800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:180127600-180127800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:180127600-180127800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:180127600-180127800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:180127600-180127800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:180127600-180127800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:180127600-180127800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:180127600-180127800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr2:180127600-180127800	Flanking Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links