Variant report

Variant	rs2638530
Chromosome Location	chr6:119006496-119006497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119000908..119005300-chr6:119005318..119008717,6	K562	blood:
2	chr6:119004382..119006834-chr6:119024515..119026911,2	K562	blood:
3	chr6:118960642..118962898-chr6:119005841..119008808,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1016095	0.86[CEU][hapmap]
rs10457341	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10457344	0.86[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10457345	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10484287	0.86[CEU][hapmap]
rs1051429	0.86[CEU][hapmap]
rs11153758	0.83[EUR][1000 genomes]
rs11153761	0.90[CEU][hapmap];0.84[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12204456	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs1318050	0.85[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13213527	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1343287	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1538996	0.86[ASN][1000 genomes]
rs1547326	0.86[CEU][hapmap]
rs1688631	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs1771752	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1771755	0.90[CHB][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1771756	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs1808098	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1844963	0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1844964	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1857312	0.83[ASN][1000 genomes]
rs1891712	0.86[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2046951	0.85[CHB][hapmap]
rs2096265	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2181513	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs2356502	0.86[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2452262	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs25421	0.86[CEU][hapmap]
rs25423	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs2638529	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2638532	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638533	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638541	0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2638544	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2638545	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2638550	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2638551	0.96[YRI][hapmap]
rs2638552	0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2798325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798326	0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2798327	0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2798328	0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2798329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734382	0.86[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs3862828	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4027595	0.85[CHB][hapmap]
rs4027728	0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4946349	0.86[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs4946351	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4946356	0.85[CHB][hapmap]
rs56344535	0.81[ASN][1000 genomes]
rs60497831	0.81[ASN][1000 genomes]
rs6569022	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs6569026	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6909211	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6911599	0.84[CHB][hapmap]
rs6923686	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6928336	0.80[EUR][1000 genomes]
rs6928957	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6929390	0.86[CEU][hapmap]
rs6937176	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs72962906	0.81[ASN][1000 genomes]
rs763255	0.81[CEU][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7740922	0.91[CEU][hapmap]
rs7741644	0.86[CEU][hapmap]
rs7746210	0.85[CHB][hapmap]
rs7749356	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7749694	0.86[CEU][hapmap]
rs7754272	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7754293	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7757337	0.86[CEU][hapmap]
rs7757407	0.86[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7759088	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs7762990	0.90[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7763904	0.83[EUR][1000 genomes]
rs7764388	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794857	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs794859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs902779	0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9285430	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9387596	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs9481815	0.91[CEU][hapmap];0.84[CHB][hapmap]
rs9481819	0.86[CEU][hapmap]
rs9481840	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9489414	0.86[CEU][hapmap]
rs9489417	0.83[CEU][hapmap]
rs9489419	0.86[CEU][hapmap]
rs9489420	0.86[CEU][hapmap]
rs9489424	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs9489432	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs9489437	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs9489438	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs9489439	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs9489446	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs9489448	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs9489449	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs9489456	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs9489459	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9489461	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9489478	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9489486	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9489487	0.86[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9489497	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9489504	0.82[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9689896	0.86[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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 target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118990600-119025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:118999600-119015600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:118999600-119021600	Weak transcription	Thymus	Thymus
4	chr6:119000800-119006800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:119001000-119026000	Weak transcription	NH-A	brain
6	chr6:119001200-119006800	Weak transcription	Osteobl	bone
7	chr6:119001400-119009800	Weak transcription	Fetal Thymus	thymus
8	chr6:119002000-119017400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:119002200-119026600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:119002400-119006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:119002400-119014600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:119003400-119007000	Enhancers	Primary T cells from cord blood	blood
13	chr6:119004000-119026600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:119005000-119016000	Weak transcription	Primary B cells from cord blood	blood
15	chr6:119005600-119007200	Weak transcription	K562	blood
16	chr6:119005600-119008000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:119005600-119015800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:119005600-119016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:119005800-119006800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:119005800-119006800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:119005800-119006800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:119005800-119006800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:119005800-119007000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:119005800-119008800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:119005800-119014800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:119006000-119007000	Weak transcription	Stomach Mucosa	stomach
27	chr6:119006200-119006800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:119006200-119007000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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