Variant report

Variant	rs5009314
Chromosome Location	chr6:57229319-57229320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:57198328..57200503-chr6:57228180..57229836,2	K562	blood:
2	chr6:57229138..57231697-chr6:57233407..57236328,3	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10949024	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10949026	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10949112	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs12193422	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12663637	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17842594	1.00[YRI][hapmap]
rs2024984	0.84[CEU][hapmap]
rs2024989	0.86[YRI][hapmap]
rs2067974	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs2079934	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2397239	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs2397241	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2397473	0.85[CEU][hapmap]
rs2397476	0.84[CEU][hapmap]
rs3950081	1.00[CEU][hapmap]
rs4236148	1.00[YRI][hapmap]
rs4481432	1.00[CEU][hapmap]
rs4544911	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4712151	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4715664	0.85[YRI][hapmap]
rs4715672	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs5001965	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs5009316	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs5009317	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs5023712	0.83[CEU][hapmap];0.83[YRI][hapmap]
rs540911	0.83[CEU][hapmap]
rs6459202	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs6459229	0.82[CEU][hapmap]
rs6899346	0.93[YRI][hapmap]
rs6929271	0.93[YRI][hapmap]
rs6929331	1.00[CEU][hapmap]
rs6937237	0.92[YRI][hapmap]
rs7739595	0.84[YRI][hapmap]
rs7742694	1.00[CEU][hapmap]
rs7754721	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7764608	1.00[CEU][hapmap]
rs7764640	0.93[YRI][hapmap]
rs887547	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs887548	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs927194	0.81[YRI][hapmap]
rs9296878	0.93[YRI][hapmap]
rs932596	0.83[CEU][hapmap]
rs932598	0.84[CEU][hapmap]
rs9370590	1.00[CEU][hapmap]
rs9370591	1.00[CEU][hapmap]
rs9370600	0.94[CEU][hapmap]
rs9382717	1.00[CEU][hapmap]
rs9382734	1.00[CEU][hapmap]
rs9396284	0.90[CEU][hapmap]
rs9475885	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs9475889	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9475890	0.89[CEU][hapmap]
rs9475977	1.00[CEU][hapmap]
rs9476073	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1015853	chr6:57205882-57528899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538231	chr6:57205882-57528899	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1026876	chr6:57205882-57911812	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538232	chr6:57205882-57911812	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1017144	chr6:57205882-58055059	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv538233	chr6:57205882-58055059	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv931006	chr6:57205883-58060394	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
13	nsv603191	chr6:57205920-57381883	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
14	nsv970125	chr6:57205998-57285497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
15	esv2453782	chr6:57206998-57575589	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1024888	chr6:57208043-57541463	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1020263	chr6:57208043-57562028	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
18	nsv538234	chr6:57208043-57562028	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1025413	chr6:57208043-57617947	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
20	nsv538235	chr6:57208043-57617947	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1024375	chr6:57208043-58002217	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
22	nsv603192	chr6:57218436-57381883	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
23	nsv603193	chr6:57218436-58075480	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
24	nsv470820	chr6:57224119-58075480	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
25	nsv885914	chr6:57224854-57364314	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
26	nsv1027292	chr6:57226182-57560129	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
27	nsv1023626	chr6:57226182-57617208	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
28	nsv1031558	chr6:57226182-57631396	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
29	nsv1024902	chr6:57226182-57768689	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57194600-57244800	Weak transcription	Spleen	Spleen
2	chr6:57195600-57238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:57199800-57251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:57208800-57231200	Weak transcription	Aorta	Aorta
5	chr6:57209000-57244800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:57215400-57229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:57220000-57229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:57220000-57230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:57221000-57238400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:57221000-57245000	Weak transcription	K562	blood
11	chr6:57222400-57248200	Weak transcription	A549	lung
12	chr6:57224000-57241000	Weak transcription	Dnd41	blood
13	chr6:57224400-57230200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:57226200-57231200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:57226200-57231200	Weak transcription	Pancreas	Pancrea
16	chr6:57226400-57236000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:57226600-57236600	Weak transcription	GM12878-XiMat	blood
18	chr6:57227000-57234000	Weak transcription	Primary B cells from cord blood	blood
19	chr6:57229000-57229600	Enhancers	NHLF	lung
20	chr6:57229000-57245000	Weak transcription	Left Ventricle	heart
21	chr6:57229200-57229800	Enhancers	Osteobl	bone
22	chr6:57229200-57230200	Enhancers	NHDF-Ad	bronchial
23	chr6:57229200-57231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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