Variant report

Variant	rs66464758
Chromosome Location	chr6:88237013-88237014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16879559	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300901	0.80[EUR][1000 genomes]
rs2300903	0.80[EUR][1000 genomes]
rs28381470	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28381475	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3819893	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41273297	0.88[AMR][1000 genomes]
rs4398698	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615353	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55755139	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55885817	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55916435	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55985738	0.91[AMR][1000 genomes]
rs56092913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56136150	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56386021	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59774543	0.86[AMR][1000 genomes]
rs60082015	0.88[AMR][1000 genomes]
rs60316099	0.93[AMR][1000 genomes]
rs66663658	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66833561	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66937072	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67371470	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67956402	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67978476	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68105619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6903825	0.80[EUR][1000 genomes]
rs6907107	0.81[EUR][1000 genomes]
rs6923655	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6924641	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6932733	0.89[AMR][1000 genomes]
rs6933305	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72922526	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72922561	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72922577	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73498106	0.81[EUR][1000 genomes]
rs7752473	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7753275	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7769144	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8802	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018155	chr6:88049729-88272862	Strong transcription Flanking Active TSS Weak transcription Enhancers 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	18 gene(s)	inside rSNPs	diseases
2	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers 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	21 gene(s)	inside rSNPs	diseases
5	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88194000-88249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:88207200-88242600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr6:88210200-88240600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:88211000-88241200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:88212000-88245200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:88214200-88244400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:88215800-88240800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:88217800-88295800	Weak transcription	Fetal Brain Male	brain
9	chr6:88219000-88249000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:88220000-88244200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:88221000-88240800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr6:88225000-88250800	Weak transcription	Stomach Mucosa	stomach
13	chr6:88227000-88250200	Weak transcription	Fetal Heart	heart
14	chr6:88227800-88298800	Weak transcription	Esophagus	oesophagus
15	chr6:88228400-88239400	Weak transcription	Fetal Brain Female	brain
16	chr6:88228400-88250200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:88228400-88298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:88228600-88239000	Weak transcription	Right Ventricle	heart
19	chr6:88228600-88239200	Weak transcription	A549	lung
20	chr6:88228600-88239600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:88228600-88239600	Weak transcription	Brain Germinal Matrix	brain
22	chr6:88228600-88244200	Weak transcription	Aorta	Aorta
23	chr6:88228600-88244400	Weak transcription	Fetal Stomach	stomach
24	chr6:88228600-88249800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:88228600-88254000	Weak transcription	Gastric	stomach
26	chr6:88228600-88262800	Weak transcription	Small Intestine	intestine
27	chr6:88228600-88271400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:88228600-88285200	Weak transcription	Spleen	Spleen
29	chr6:88228800-88239400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:88228800-88240000	Weak transcription	NHLF	lung
31	chr6:88228800-88244400	Weak transcription	Pancreas	Pancrea
32	chr6:88228800-88253800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:88228800-88269600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:88229000-88239800	Weak transcription	Thymus	Thymus
35	chr6:88229400-88248800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:88229400-88248800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:88229400-88249000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:88229400-88261600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:88229400-88271200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:88229600-88239400	Weak transcription	Colonic Mucosa	Colon
41	chr6:88229600-88244000	Weak transcription	Hela-S3	cervix
42	chr6:88229600-88254000	Weak transcription	Brain Anterior Caudate	brain
43	chr6:88229600-88289000	Weak transcription	Lung	lung
44	chr6:88230000-88249200	Weak transcription	Fetal Lung	lung
45	chr6:88230000-88267000	Weak transcription	Brain Substantia Nigra	brain
46	chr6:88230200-88237600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:88230400-88271200	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:88230600-88239000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:88230600-88239000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:88230600-88239400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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