Variant report

Variant	rs3824263
Chromosome Location	chr8:67372743-67372744
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67347340..67349444-chr8:67372672..67374895,2	K562	blood:
2	chr8:67371423..67376205-chr8:67520601..67527002,8	MCF-7	breast:
3	chr8:67370489..67372991-chr8:67834453..67837306,2	MCF-7	breast:
4	chr8:67372183..67373683-chr8:67623863..67626623,2	MCF-7	breast:
5	chr8:67343368..67345307-chr8:67372235..67374136,2	K562	blood:

Variant related genes	Relation type
ENSG00000254341	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000245910	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541034	0.82[CHB][hapmap]
rs12541243	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12545483	0.83[CHB][hapmap]
rs12546504	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675850	0.83[CHB][hapmap]
rs12677003	0.90[ASN][1000 genomes]
rs13259712	0.84[ASN][1000 genomes]
rs13274386	1.00[CEU][hapmap]
rs1559886	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16932908	0.82[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16932940	0.83[CHB][hapmap]
rs16932942	0.83[CHB][hapmap]
rs2555580	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs34680830	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35188537	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3739336	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs6651308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71515021	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736458	0.83[CHB][hapmap]
rs746787	0.83[CHB][hapmap]
rs746789	0.83[CHB][hapmap]
rs9643398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67356200-67374400	Strong transcription	Liver	Liver
2	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
3	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
4	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
8	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:67365200-67374600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:67365600-67375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
15	chr8:67366000-67373400	Weak transcription	Gastric	stomach
16	chr8:67366000-67374000	Weak transcription	Right Ventricle	heart
17	chr8:67366000-67376600	Weak transcription	Right Atrium	heart
18	chr8:67366400-67373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
20	chr8:67368800-67374000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:67369000-67373400	Weak transcription	Lung	lung
22	chr8:67369000-67375400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:67369000-67375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:67369000-67376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:67369000-67376000	Weak transcription	Fetal Heart	heart
26	chr8:67369400-67373200	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:67369600-67373600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:67370800-67374600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:67371000-67372800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:67371200-67372800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:67371200-67383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:67371400-67372800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:67371600-67372800	Enhancers	Hela-S3	cervix
36	chr8:67372000-67372800	Enhancers	Fetal Lung	lung
37	chr8:67372000-67372800	Enhancers	NHDF-Ad	bronchial
38	chr8:67372000-67373600	Genic enhancers	Stomach Smooth Muscle	stomach
39	chr8:67372000-67376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:67372200-67372800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:67372200-67372800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:67372200-67372800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:67372200-67372800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:67372200-67372800	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr8:67372200-67372800	Enhancers	NH-A	brain
46	chr8:67372200-67373000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr8:67372200-67373600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr8:67372200-67373800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:67372200-67374000	Enhancers	Placenta	Placenta
50	chr8:67372200-67374000	Strong transcription	Fetal Stomach	stomach

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