Variant report

Variant	rs9294875
Chromosome Location	chr6:71233348-71233349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10440813	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10485117	0.81[AFR][1000 genomes]
rs12332923	1.00[AMR][1000 genomes]
rs16869217	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869242	0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869261	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869301	1.00[AMR][1000 genomes]
rs2207424	1.00[AMR][1000 genomes]
rs2223997	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28555262	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28885692	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846749	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs9294870	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs9294873	1.00[AMR][1000 genomes]
rs9446243	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446251	1.00[AMR][1000 genomes]
rs9446253	1.00[AMR][1000 genomes]
rs9446255	1.00[AMR][1000 genomes]
rs9446256	0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446257	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446259	1.00[AMR][1000 genomes]
rs9446260	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446261	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446262	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446263	0.83[AFR][1000 genomes]
rs9446264	1.00[AMR][1000 genomes]
rs9446265	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446266	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455096	0.81[YRI][hapmap]
rs9455102	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs9455103	0.81[YRI][hapmap]
rs9455107	1.00[AMR][1000 genomes]
rs9455109	1.00[AMR][1000 genomes]
rs9455110	1.00[AMR][1000 genomes]
rs9455112	1.00[AMR][1000 genomes]
rs9455115	1.00[AMR][1000 genomes]
rs9455116	1.00[AMR][1000 genomes]
rs9455117	1.00[AMR][1000 genomes]
rs9455118	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455119	1.00[AMR][1000 genomes]
rs9455120	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455122	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455123	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455124	1.00[AMR][1000 genomes]
rs9455126	1.00[AMR][1000 genomes]
rs9455127	1.00[AMR][1000 genomes]
rs9455128	1.00[AMR][1000 genomes]
rs9455131	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455134	1.00[AMR][1000 genomes]
rs9455135	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455136	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455137	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455141	1.00[AMR][1000 genomes]
rs9455142	1.00[AMR][1000 genomes]
rs9455143	1.00[AMR][1000 genomes]
rs9455145	1.00[AMR][1000 genomes]
rs9455146	1.00[AMR][1000 genomes]
rs9455147	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455148	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455154	1.00[AMR][1000 genomes]
rs9455155	1.00[AMR][1000 genomes]
rs9455157	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455159	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71210600-71262000	Weak transcription	Fetal Thymus	thymus
2	chr6:71214000-71236600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:71214000-71244800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:71214000-71248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:71214000-71248800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:71214000-71249600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:71214000-71250600	Weak transcription	Right Ventricle	heart
8	chr6:71214000-71253000	Weak transcription	Colonic Mucosa	Colon
9	chr6:71214000-71253000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:71214000-71256600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:71214000-71276000	Weak transcription	Brain Angular Gyrus	brain
12	chr6:71214000-71276000	Weak transcription	Brain Germinal Matrix	brain
13	chr6:71214000-71276000	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:71214200-71234000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:71214200-71234400	Weak transcription	Liver	Liver
16	chr6:71214200-71248200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:71214400-71234200	Weak transcription	HepG2	liver
18	chr6:71214400-71238200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:71214400-71246000	Weak transcription	HMEC	breast
20	chr6:71214400-71251000	Weak transcription	Brain Substantia Nigra	brain
21	chr6:71214400-71251800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:71214400-71257000	Weak transcription	Brain Anterior Caudate	brain
23	chr6:71214400-71262000	Weak transcription	Psoas Muscle	Psoas
24	chr6:71214600-71234600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:71214600-71241600	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:71214600-71244000	Weak transcription	Esophagus	oesophagus
27	chr6:71214600-71244400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:71214600-71248200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:71214600-71248600	Weak transcription	NHEK	skin
30	chr6:71214600-71248800	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:71214600-71251200	Weak transcription	K562	blood
32	chr6:71214600-71276000	Weak transcription	A549	lung
33	chr6:71214800-71240400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:71215000-71273000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:71215200-71234600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:71216000-71240400	Weak transcription	GM12878-XiMat	blood
37	chr6:71216200-71233400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:71216200-71233600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:71216200-71262200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:71216400-71234400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:71216800-71234800	Weak transcription	Fetal Lung	lung
42	chr6:71218000-71234400	Weak transcription	Left Ventricle	heart
43	chr6:71218000-71234600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:71218000-71238600	Weak transcription	Stomach Mucosa	stomach
45	chr6:71219000-71258800	Weak transcription	Small Intestine	intestine
46	chr6:71219200-71234600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:71224800-71234200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:71225000-71233400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:71225000-71234000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:71225000-71234200	Weak transcription	Duodenum Mucosa	Duodenum

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