Variant report

Variant	rs9446265
Chromosome Location	chr6:71262858-71262859
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71259313..71261414-chr6:71262215..71264964,3	K562	blood:
2	chr6:71261755..71263355-chr6:71265514..71268165,2	K562	blood:

Variant related genes	Relation type
ENSG00000082269	Chromatin interaction

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]
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]
rs9455136	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	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
3	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
4	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
5	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
6	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71214000-71276000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:71214000-71276000	Weak transcription	Brain Germinal Matrix	brain
3	chr6:71214000-71276000	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:71214600-71276000	Weak transcription	A549	lung
5	chr6:71215000-71273000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:71228600-71276000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:71229600-71276200	Weak transcription	Aorta	Aorta
8	chr6:71231200-71268000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:71236400-71273200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:71237000-71276200	Weak transcription	Left Ventricle	heart
11	chr6:71243400-71276200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:71245400-71270600	Weak transcription	Adipose Nuclei	Adipose
13	chr6:71245400-71276400	Weak transcription	Esophagus	oesophagus
14	chr6:71245400-71276400	Weak transcription	Gastric	stomach
15	chr6:71245600-71276200	Weak transcription	Primary B cells from cord blood	blood
16	chr6:71249200-71268200	Weak transcription	Fetal Lung	lung
17	chr6:71249200-71273000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:71249200-71275800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:71249400-71266800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:71249400-71276200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:71249800-71276200	Weak transcription	Fetal Brain Female	brain
22	chr6:71250000-71273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:71250000-71274600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:71250000-71276000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:71250000-71276000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:71250400-71276000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:71250600-71276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:71250600-71276000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:71250600-71276200	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:71251800-71267400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:71251800-71276200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:71252000-71268200	Weak transcription	Ovary	ovary
33	chr6:71252800-71266600	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:71252800-71267600	Weak transcription	Placenta	Placenta
35	chr6:71253400-71276200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:71254000-71267400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:71255200-71268200	Weak transcription	Fetal Stomach	stomach
38	chr6:71255400-71268200	Weak transcription	Fetal Intestine Small	intestine
39	chr6:71257200-71273000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:71257400-71266200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:71257600-71274200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:71257800-71273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:71258000-71273000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:71258200-71273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:71258400-71269400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:71258400-71273200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:71260000-71275200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:71260000-71276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:71260400-71275800	Weak transcription	Fetal Intestine Large	intestine
50	chr6:71260400-71276000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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