Variant report

Variant	rs9455136
Chromosome Location	chr6:71217274-71217275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71212061..71213722-chr6:71216288..71218421,2	K562	blood:
2	chr6:71195612..71198430-chr6:71216312..71218280,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10080714	0.84[AFR][1000 genomes]
rs10440813	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10485117	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12332812	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs12332923	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869217	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869242	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869261	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869301	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2207424	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2223997	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28555262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28885692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846749	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs747454	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9294867	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs9294869	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9294870	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9294873	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294875	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294877	0.81[AFR][1000 genomes]
rs9446243	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446244	0.83[YRI][hapmap]
rs9446247	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446251	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446253	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446256	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446257	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446259	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446260	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446261	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446262	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446263	0.98[AFR][1000 genomes]
rs9446264	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446265	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446266	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455091	0.91[YRI][hapmap]
rs9455096	1.00[YRI][hapmap]
rs9455102	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455103	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9455107	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455109	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455110	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455112	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455115	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455116	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455117	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455119	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455120	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455122	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455123	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455124	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455126	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455127	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455128	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455131	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455134	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455135	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455137	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455141	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455142	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455143	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455145	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455152	0.91[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455154	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455155	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455157	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455183	0.81[AFR][1000 genomes]
rs9455184	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71187400-71218200	Weak transcription	Small Intestine	intestine
2	chr6:71210600-71262000	Weak transcription	Fetal Thymus	thymus
3	chr6:71211400-71221600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:71212000-71217600	Weak transcription	Hela-S3	cervix
5	chr6:71214000-71217800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:71214000-71217800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:71214000-71218200	Weak transcription	NHDF-Ad	bronchial
8	chr6:71214000-71218400	Weak transcription	Fetal Heart	heart
9	chr6:71214000-71220600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:71214000-71236600	Weak transcription	Primary B cells from cord blood	blood
11	chr6:71214000-71244800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:71214000-71248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:71214000-71248800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:71214000-71249600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:71214000-71250600	Weak transcription	Right Ventricle	heart
16	chr6:71214000-71253000	Weak transcription	Colonic Mucosa	Colon
17	chr6:71214000-71253000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:71214000-71256600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:71214000-71276000	Weak transcription	Brain Angular Gyrus	brain
20	chr6:71214000-71276000	Weak transcription	Brain Germinal Matrix	brain
21	chr6:71214000-71276000	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:71214200-71217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:71214200-71218000	Weak transcription	HUVEC	blood vessel
24	chr6:71214200-71225800	Weak transcription	Ovary	ovary
25	chr6:71214200-71234000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:71214200-71234400	Weak transcription	Liver	Liver
27	chr6:71214200-71248200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:71214400-71217800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:71214400-71218600	Weak transcription	Fetal Brain Female	brain
30	chr6:71214400-71220400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:71214400-71224800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:71214400-71226200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:71214400-71226200	Weak transcription	Fetal Brain Male	brain
34	chr6:71214400-71234200	Weak transcription	HepG2	liver
35	chr6:71214400-71238200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:71214400-71246000	Weak transcription	HMEC	breast
37	chr6:71214400-71251000	Weak transcription	Brain Substantia Nigra	brain
38	chr6:71214400-71251800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:71214400-71257000	Weak transcription	Brain Anterior Caudate	brain
40	chr6:71214400-71262000	Weak transcription	Psoas Muscle	Psoas
41	chr6:71214600-71217600	Weak transcription	Left Ventricle	heart
42	chr6:71214600-71221600	Weak transcription	Aorta	Aorta
43	chr6:71214600-71227800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:71214600-71234600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:71214600-71241600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:71214600-71244000	Weak transcription	Esophagus	oesophagus
47	chr6:71214600-71244400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:71214600-71248200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:71214600-71248600	Weak transcription	NHEK	skin
50	chr6:71214600-71248800	Weak transcription	Brain Hippocampus Middle	brain

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