Variant report

Variant	rs9446247
Chromosome Location	chr6:71143420-71143421
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:71132216..71135459-chr6:71141199..71145910,4	K562	blood:
2	chr6:71124304..71127222-chr6:71142586..71144207,2	K562	blood:
3	chr6:71136831..71139048-chr6:71141415..71143489,2	K562	blood:

Variant related genes	Relation type
ENSG00000082269	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10080714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10440813	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs10485117	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332812	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332923	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs16869217	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869242	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869261	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869301	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2207424	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2223997	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs28555262	0.84[AFR][1000 genomes]
rs28885692	0.84[AFR][1000 genomes]
rs3846749	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747454	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294867	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294869	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294870	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294873	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446243	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446244	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs9446251	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446253	0.86[AFR][1000 genomes]
rs9446255	0.95[AFR][1000 genomes]
rs9446256	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446257	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446259	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9446260	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446261	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446262	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446263	0.82[AFR][1000 genomes]
rs9446264	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9446265	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446266	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455091	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455096	0.93[YRI][hapmap]
rs9455102	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455103	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455107	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455109	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455110	0.95[AFR][1000 genomes]
rs9455112	0.95[AFR][1000 genomes]
rs9455115	0.90[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455116	0.95[AFR][1000 genomes]
rs9455117	0.90[AFR][1000 genomes]
rs9455118	0.88[AFR][1000 genomes]
rs9455119	0.90[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455120	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455122	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455123	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455124	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455126	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455127	0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455128	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455131	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455134	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455135	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455136	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455137	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455141	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455142	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455143	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455145	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455146	0.85[AFR][1000 genomes]
rs9455147	0.84[AFR][1000 genomes]
rs9455148	0.84[AFR][1000 genomes]
rs9455152	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455154	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455155	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455157	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455159	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS 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	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1027161	chr6:71106657-71145166	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv966632	chr6:71138127-71144459	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71124000-71157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:71124200-71143800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:71124200-71154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:71124200-71157800	Weak transcription	Spleen	Spleen
5	chr6:71124200-71159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:71124400-71148800	Weak transcription	NHLF	lung
7	chr6:71124400-71152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:71124400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:71124400-71160400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:71124600-71145000	Weak transcription	HUVEC	blood vessel
12	chr6:71124600-71157200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:71124600-71157800	Weak transcription	Colonic Mucosa	Colon
14	chr6:71125000-71145000	Weak transcription	Fetal Thymus	thymus
15	chr6:71125000-71147400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:71125000-71148400	Weak transcription	Brain Germinal Matrix	brain
17	chr6:71125000-71148800	Weak transcription	Fetal Brain Male	brain
18	chr6:71125400-71188800	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:71125400-71188800	Weak transcription	HSMM	muscle
20	chr6:71125600-71162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:71126000-71157800	Weak transcription	Dnd41	blood
22	chr6:71128600-71156800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:71128800-71154800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:71128800-71157800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:71130200-71183200	Weak transcription	Brain Angular Gyrus	brain
26	chr6:71130200-71185400	Weak transcription	K562	blood
27	chr6:71131400-71148400	Weak transcription	GM12878-XiMat	blood
28	chr6:71133800-71146600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr6:71134000-71148200	Weak transcription	Fetal Kidney	kidney
30	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:71134200-71161400	Weak transcription	Small Intestine	intestine
32	chr6:71134600-71149200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:71136000-71148200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:71136200-71147000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:71136200-71148200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:71136600-71157200	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:71136600-71157800	Weak transcription	Pancreas	Pancrea
38	chr6:71136800-71154800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:71136800-71157600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr6:71136800-71157800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:71136800-71213600	Weak transcription	Brain Substantia Nigra	brain
42	chr6:71137000-71148600	Weak transcription	Stomach Mucosa	stomach
43	chr6:71137400-71154400	Weak transcription	HMEC	breast
44	chr6:71137800-71144000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:71138000-71144600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:71138000-71148200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:71139000-71144000	Weak transcription	A549	lung
48	chr6:71139400-71144800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr6:71139400-71157800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:71139400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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