Variant report

Variant	rs17618390
Chromosome Location	chr2:63831325-63831326
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63822582..63825327-chr2:63828934..63831453,2	MCF-7	breast:
2	chr2:63826813..63829662-chr2:63829983..63831966,2	K562	blood:
3	chr2:63815617..63817971-chr2:63829459..63831382,2	K562	blood:

Variant related genes	Relation type
ENSG00000014641	Chromatin interaction
ENSG00000143951	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10164844	0.87[JPT][hapmap]
rs10200146	0.87[JPT][hapmap]
rs10209140	0.81[JPT][hapmap]
rs1022351	0.80[JPT][hapmap]
rs10496102	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1109027	1.00[YRI][hapmap]
rs12464471	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12470478	0.81[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs12472865	1.00[YRI][hapmap]
rs12476015	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13405855	0.82[ASN][1000 genomes]
rs17554675	0.87[ASN][1000 genomes]
rs17617855	0.81[EUR][1000 genomes]
rs17618045	1.00[YRI][hapmap]
rs17619354	0.87[ASN][1000 genomes]
rs2168274	0.81[JPT][hapmap]
rs2278718	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421891	0.86[JPT][hapmap]
rs2421892	0.80[JPT][hapmap]
rs4567921	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671062	0.81[ASN][1000 genomes]
rs4671506	0.81[JPT][hapmap]
rs4671522	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671527	0.81[ASN][1000 genomes]
rs6546023	0.87[ASN][1000 genomes]
rs6722981	0.82[ASN][1000 genomes]
rs6723088	0.82[ASN][1000 genomes]
rs6731136	0.83[JPT][hapmap]
rs72806004	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72806010	0.85[ASN][1000 genomes]
rs72806027	0.89[ASN][1000 genomes]
rs72806055	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72806058	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72806082	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72806089	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806095	0.86[ASN][1000 genomes]
rs72821628	0.80[EUR][1000 genomes]
rs72821630	0.80[EUR][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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63817000-63831800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:63817200-63834400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:63817400-63831600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:63818000-63834800	Strong transcription	Fetal Thymus	thymus
5	chr2:63818000-63835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:63818400-63831800	Weak transcription	Colonic Mucosa	Colon
7	chr2:63818400-63831800	Weak transcription	Small Intestine	intestine
8	chr2:63818600-63834800	Strong transcription	Primary T cells from cord blood	blood
9	chr2:63818600-63835800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:63818800-63831800	Weak transcription	Fetal Brain Male	brain
11	chr2:63818800-63832000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:63819200-63835000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:63819400-63834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:63819600-63834800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:63820200-63834800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:63820200-63834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:63820200-63835200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:63820400-63834600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:63820400-63834800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:63820400-63835000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:63820400-63835000	Strong transcription	Liver	Liver
22	chr2:63820600-63834200	Strong transcription	A549	lung
23	chr2:63820600-63834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:63820600-63834800	Strong transcription	Placenta	Placenta
25	chr2:63820600-63835000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:63820800-63834800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:63820800-63835600	Strong transcription	Dnd41	blood
28	chr2:63821200-63834400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:63821200-63834800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:63821400-63834600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:63821400-63835000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr2:63821400-63835200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:63821600-63834400	Strong transcription	Osteobl	bone
34	chr2:63821600-63834600	Strong transcription	GM12878-XiMat	blood
35	chr2:63821600-63843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:63821800-63834600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:63822000-63836000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:63822400-63831600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:63823600-63831800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:63823800-63834800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:63823800-63835800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:63824400-63835400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:63824800-63834600	Strong transcription	HepG2	liver
44	chr2:63825400-63834800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:63825400-63835000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:63825800-63834600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:63825800-63834600	Strong transcription	HSMM	muscle
48	chr2:63825800-63834800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:63826200-63834600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:63826400-63836000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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