Variant report

Variant	rs1595018
Chromosome Location	chr2:11637869-11637870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11631289..11634219-chr2:11636050..11638651,2	K562	blood:
2	chr2:11272830..11274670-chr2:11637481..11640163,2	MCF-7	breast:
3	chr2:11259839..11261807-chr2:11636921..11639013,2	MCF-7	breast:
4	chr2:11268242..11270233-chr2:11636174..11639118,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150873	Chromatin interaction
ENSG00000145063	Chromatin interaction

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

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

rs_ID	r²[population]
rs10169987	1.00[JPT][hapmap]
rs10205078	1.00[JPT][hapmap]
rs11674659	1.00[AMR][1000 genomes]
rs11886420	1.00[AMR][1000 genomes]
rs11897533	1.00[AMR][1000 genomes]
rs12165170	1.00[JPT][hapmap]
rs13388093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13395155	1.00[JPT][hapmap]
rs13407457	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13430148	1.00[JPT][hapmap]
rs16857565	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2043542	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2082829	1.00[AMR][1000 genomes]
rs2082830	1.00[AMR][1000 genomes]
rs4233893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4668729	1.00[JPT][hapmap]
rs6432202	1.00[CHB][hapmap]
rs6432203	1.00[ASN][1000 genomes]
rs6432207	1.00[ASN][1000 genomes]
rs6719003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6719009	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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
2	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11624000-11638600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:11629000-11638600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:11632400-11638600	Weak transcription	Psoas Muscle	Psoas
4	chr2:11633000-11638400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:11633200-11638800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:11636200-11638200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:11636200-11638600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11636200-11638600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:11636400-11638600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11636400-11638600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:11636400-11638600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:11636400-11638600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:11636400-11638600	Weak transcription	Lung	lung
14	chr2:11636400-11638600	Weak transcription	Pancreas	Pancrea
15	chr2:11636400-11638600	Weak transcription	Spleen	Spleen
16	chr2:11636400-11638800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:11636400-11639000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:11636400-11639000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:11636400-11639200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:11636400-11646400	Weak transcription	Right Atrium	heart
21	chr2:11636600-11638400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:11636600-11638400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:11636600-11638600	Enhancers	Brain Angular Gyrus	brain
24	chr2:11636600-11638600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:11636600-11638600	Weak transcription	Fetal Lung	lung
26	chr2:11636600-11638600	Weak transcription	Right Ventricle	heart
27	chr2:11636600-11638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:11636600-11638800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:11636600-11638800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:11636600-11638800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:11636600-11638800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:11636600-11638800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:11636600-11639800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11636600-11641200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:11637000-11640800	Enhancers	Liver	Liver
36	chr2:11637200-11638600	Enhancers	Brain Hippocampus Middle	brain
37	chr2:11637200-11638600	Weak transcription	Left Ventricle	heart
38	chr2:11637200-11638600	Weak transcription	Ovary	ovary
39	chr2:11637400-11638600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:11637400-11639400	Enhancers	Fetal Heart	heart
41	chr2:11637400-11640200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:11637600-11638000	Flanking Active TSS	HepG2	liver
43	chr2:11637600-11638600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:11637600-11638600	Enhancers	Brain Anterior Caudate	brain
45	chr2:11637800-11638000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:11637800-11638000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:11637800-11640000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links