Variant report

Variant	rs1392288
Chromosome Location	chr3:46034791-46034792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:45639893..45641594-chr3:46034221..46037019,2	K562	blood:
2	chr3:45985845..45987639-chr3:46033798..46035910,2	K562	blood:
3	chr3:46026501..46029475-chr3:46032165..46035137,4	MCF-7	breast:
4	chr3:46019979..46023374-chr3:46034093..46037294,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XCR1-2	chr3:46033520-46037161	ucscGeneNc_uc003cpd_1

Variant related genes	Relation type
ENSG00000172215	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11130078	0.84[ASN][1000 genomes]
rs12053895	0.88[ASN][1000 genomes]
rs12485445	0.88[ASN][1000 genomes]
rs13064616	0.92[ASN][1000 genomes]
rs13084541	0.82[ASN][1000 genomes]
rs1388605	0.91[CEU][hapmap]
rs1463680	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1500003	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1546076	0.90[CEU][hapmap]
rs1809733	0.91[CEU][hapmap]
rs1846615	1.00[ASN][1000 genomes]
rs1873001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2101446	0.90[EUR][1000 genomes]
rs2129879	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2129881	0.92[ASN][1000 genomes]
rs2133660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs2171528	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2171529	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2234350	0.88[ASN][1000 genomes]
rs2276855	0.96[ASN][1000 genomes]
rs2276856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2373089	0.88[ASN][1000 genomes]
rs2373090	0.88[ASN][1000 genomes]
rs2373148	0.84[CEU][hapmap]
rs2373155	1.00[CEU][hapmap]
rs35283688	0.88[ASN][1000 genomes]
rs3796374	1.00[ASN][1000 genomes]
rs3947589	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4682801	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs4683158	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs4683165	0.91[ASN][1000 genomes]
rs55844314	1.00[ASN][1000 genomes]
rs57542549	0.82[ASN][1000 genomes]
rs57651127	0.96[ASN][1000 genomes]
rs57837898	0.96[ASN][1000 genomes]
rs6786959	0.85[CEU][hapmap]
rs6802312	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs6809223	0.85[CEU][hapmap]
rs751667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7612402	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7622333	0.85[CEU][hapmap]
rs7628447	0.83[YRI][hapmap]
rs7638309	0.85[CEU][hapmap]
rs7653682	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs904634	0.89[EUR][1000 genomes]
rs9820016	0.91[CEU][hapmap]
rs9844821	1.00[ASN][1000 genomes]
rs9869848	0.88[ASN][1000 genomes]
rs9875616	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46021400-46036200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:46026600-46036200	Enhancers	Left Ventricle	heart
3	chr3:46026800-46035600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:46027200-46036000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:46028400-46035400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:46029400-46036200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:46029400-46036200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:46029400-46036200	Weak transcription	A549	lung
9	chr3:46029800-46035800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:46029800-46036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:46029800-46036000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:46030000-46036000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:46030000-46036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:46030200-46035000	Weak transcription	Fetal Lung	lung
15	chr3:46030200-46036200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:46030600-46036000	Weak transcription	Fetal Intestine Small	intestine
17	chr3:46030800-46036000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:46030800-46036200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:46031000-46035400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:46031200-46034800	Weak transcription	HepG2	liver
21	chr3:46031400-46035800	Weak transcription	Brain Germinal Matrix	brain
22	chr3:46031400-46035800	Weak transcription	Hela-S3	cervix
23	chr3:46031400-46036200	Weak transcription	HUVEC	blood vessel
24	chr3:46031800-46035800	Weak transcription	NHEK	skin
25	chr3:46031800-46036000	Weak transcription	Brain Angular Gyrus	brain
26	chr3:46031800-46036200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:46031800-46036200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:46031800-46036200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:46032000-46036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:46032000-46036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:46032000-46036200	Weak transcription	HMEC	breast
32	chr3:46032200-46036200	Enhancers	Fetal Heart	heart
33	chr3:46032200-46036200	Weak transcription	Fetal Intestine Large	intestine
34	chr3:46032600-46035600	Enhancers	Liver	Liver
35	chr3:46032600-46035600	Enhancers	Psoas Muscle	Psoas
36	chr3:46032800-46035200	Enhancers	Brain Substantia Nigra	brain
37	chr3:46032800-46035200	Enhancers	Stomach Mucosa	stomach
38	chr3:46032800-46035200	Enhancers	Spleen	Spleen
39	chr3:46032800-46035400	Enhancers	Aorta	Aorta
40	chr3:46032800-46035800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:46032800-46035800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:46032800-46035800	Enhancers	Right Atrium	heart
43	chr3:46032800-46035800	Enhancers	NHDF-Ad	bronchial
44	chr3:46032800-46036000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr3:46032800-46036200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:46032800-46036200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:46032800-46036200	Enhancers	Lung	lung
48	chr3:46032800-46036200	Enhancers	Pancreas	Pancrea
49	chr3:46033000-46034800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr3:46033000-46035000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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