Variant report

Variant	rs2486396
Chromosome Location	chr6:149321746-149321747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149320919..149324132-chr6:149326009..149328937,3	K562	blood:
2	chr6:149321677..149323293-chr6:149324219..149325797,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2486390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486392	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2486398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2486400	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2486402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2486403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2486404	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2486414	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2486415	0.84[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2486416	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2500525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2500528	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2500530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500533	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2500535	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2500543	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2500545	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2500548	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6899672	1.00[CEU][hapmap]
rs9390651	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149310200-149335200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:149311000-149335200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:149314800-149327400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:149315000-149322200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:149317000-149321800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:149317200-149321800	Enhancers	Osteobl	bone
8	chr6:149317600-149321800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:149317600-149321800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:149317600-149322000	Enhancers	HSMM	muscle
11	chr6:149317800-149322200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:149318400-149322400	Enhancers	Dnd41	blood
13	chr6:149319000-149321800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:149319000-149321800	Enhancers	Ovary	ovary
15	chr6:149319000-149321800	Enhancers	NH-A	brain
16	chr6:149319400-149321800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:149319400-149321800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:149319400-149321800	Enhancers	HSMMtube	muscle
19	chr6:149319600-149321800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:149319800-149321800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:149320000-149321800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:149320000-149321800	Enhancers	Stomach Smooth Muscle	stomach
23	chr6:149320000-149321800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:149320200-149322200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:149320200-149322400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:149320200-149335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:149320200-149344800	Weak transcription	Left Ventricle	heart
28	chr6:149320400-149321800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:149320400-149321800	Enhancers	Colon Smooth Muscle	Colon
30	chr6:149320600-149321800	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:149320600-149321800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:149320600-149321800	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:149320600-149321800	Enhancers	Rectal Smooth Muscle	rectum
34	chr6:149320600-149323000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr6:149320800-149321800	Enhancers	Primary B cells from cord blood	blood
36	chr6:149320800-149322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:149320800-149322600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:149321000-149321800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:149321000-149321800	Enhancers	Primary T cells from cord blood	blood
40	chr6:149321000-149321800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:149321000-149321800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr6:149321000-149321800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:149321000-149321800	Enhancers	NHDF-Ad	bronchial
44	chr6:149321000-149322400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr6:149321200-149321800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:149321200-149321800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:149321200-149321800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:149321200-149321800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr6:149321200-149321800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr6:149321200-149322200	Weak transcription	Fetal Stomach	stomach

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