Variant report

Variant	rs10182310
Chromosome Location	chr2:54847236-54847237
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54814029..54817875-chr2:54846911..54850562,3	K562	blood:
2	chr2:54837203..54842761-chr2:54843020..54847377,6	K562	blood:
3	chr2:54846872..54848566-chr2:54855790..54857560,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10169013	1.00[ASN][1000 genomes]
rs10171393	1.00[ASN][1000 genomes]
rs10172671	1.00[ASN][1000 genomes]
rs10187734	0.87[AFR][1000 genomes]
rs10188548	1.00[ASN][1000 genomes]
rs10189084	1.00[ASN][1000 genomes]
rs10191357	1.00[ASN][1000 genomes]
rs10194488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10195423	1.00[ASN][1000 genomes]
rs10206622	1.00[ASN][1000 genomes]
rs13391762	1.00[ASN][1000 genomes]
rs13403817	1.00[ASN][1000 genomes]
rs13414727	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs13415413	1.00[ASN][1000 genomes]
rs13415949	1.00[ASN][1000 genomes]
rs13423872	1.00[ASN][1000 genomes]
rs13425620	1.00[ASN][1000 genomes]
rs13426037	1.00[ASN][1000 genomes]
rs13427468	1.00[ASN][1000 genomes]
rs13428524	1.00[ASN][1000 genomes]
rs13431302	1.00[ASN][1000 genomes]
rs13432101	1.00[GIH][hapmap]
rs164941	1.00[ASN][1000 genomes]
rs17045949	1.00[ASN][1000 genomes]
rs2229505	1.00[ASN][1000 genomes]
rs28496426	1.00[ASN][1000 genomes]
rs28609649	1.00[ASN][1000 genomes]
rs28660202	1.00[ASN][1000 genomes]
rs28679552	1.00[ASN][1000 genomes]
rs4387841	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs6545417	1.00[ASN][1000 genomes]
rs6545426	1.00[ASN][1000 genomes]
rs6735962	1.00[ASN][1000 genomes]
rs6746379	1.00[ASN][1000 genomes]
rs7340250	1.00[ASN][1000 genomes]
rs73934326	1.00[ASN][1000 genomes]
rs7574433	1.00[ASN][1000 genomes]
rs9808516	1.00[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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54829800-54859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54838800-54848800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:54838800-54860200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:54839000-54848200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:54839200-54848600	Genic enhancers	Left Ventricle	heart
8	chr2:54839200-54861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:54839400-54853000	Strong transcription	Fetal Intestine Large	intestine
11	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:54839600-54852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:54839600-54862600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:54840800-54861400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:54841000-54861400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:54841000-54861400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:54841200-54861200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:54841600-54852400	Strong transcription	HSMMtube	muscle
20	chr2:54841600-54856200	Strong transcription	Hela-S3	cervix
21	chr2:54841600-54857000	Strong transcription	HSMM	muscle
22	chr2:54841800-54857000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:54841800-54860000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:54841800-54860000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:54842000-54863600	Strong transcription	Fetal Brain Female	brain
26	chr2:54842400-54856800	Strong transcription	NH-A	brain
27	chr2:54842400-54861400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:54842400-54862800	Strong transcription	NHEK	skin
29	chr2:54842600-54861000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:54842800-54862400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr2:54843000-54861400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:54844200-54847400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:54844200-54847400	Genic enhancers	Pancreas	Pancrea
36	chr2:54844200-54850000	Strong transcription	K562	blood
37	chr2:54844400-54847400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:54844400-54848600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:54844400-54860000	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr2:54844600-54847800	Genic enhancers	Adipose Nuclei	Adipose
41	chr2:54844800-54847400	Genic enhancers	Brain Angular Gyrus	brain
42	chr2:54845000-54847600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:54845200-54847400	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr2:54845200-54847400	Genic enhancers	Colon Smooth Muscle	Colon
45	chr2:54845200-54847400	Genic enhancers	Fetal Stomach	stomach
46	chr2:54845200-54847400	Genic enhancers	Small Intestine	intestine
47	chr2:54845200-54848200	Genic enhancers	Fetal Muscle Leg	muscle
48	chr2:54845400-54848000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:54845400-54848200	Genic enhancers	Brain Hippocampus Middle	brain
50	chr2:54845400-54850000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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