Variant report

Variant	rs6484425
Chromosome Location	chr11:8804363-8804364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8789292..8792139-chr11:8801689..8804373,2	K562	blood:

Variant related genes	Relation type
ENSG00000255159	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10160684	0.83[ASN][1000 genomes]
rs10500705	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10500707	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10732515	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10734636	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10734637	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10743087	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10743088	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10743089	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10769952	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10769953	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10769954	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10769959	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1079452	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042058	0.85[EUR][1000 genomes]
rs11042066	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11042068	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11603335	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2173999	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2292045	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2292046	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2873297	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34090393	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34524863	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34599227	0.88[EUR][1000 genomes]
rs35098775	0.81[EUR][1000 genomes]
rs35670750	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3763920	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3842991	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3844099	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3844100	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3850933	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3862352	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4929910	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4929934	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4929936	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7120004	0.82[ASN][1000 genomes]
rs7934519	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6484425	ST5	cis	occipital cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
3	chr11:8789600-8805800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
5	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:8796200-8808000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:8797400-8808200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:8798200-8808200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:8798200-8808400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:8798200-8810000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:8798600-8807400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:8799600-8807000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:8799800-8808200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:8800400-8808200	Weak transcription	Fetal Brain Male	brain
16	chr11:8800600-8807400	Weak transcription	Fetal Intestine Small	intestine
17	chr11:8800600-8808200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:8800600-8811400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:8800800-8807000	Weak transcription	Gastric	stomach
20	chr11:8800800-8808600	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:8800800-8822400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
23	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:8801000-8808000	Weak transcription	Psoas Muscle	Psoas
25	chr11:8801000-8808400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:8801000-8808400	Weak transcription	HepG2	liver
27	chr11:8801000-8815600	Weak transcription	NHDF-Ad	bronchial
28	chr11:8801200-8805400	Weak transcription	Aorta	Aorta
29	chr11:8801200-8808400	Weak transcription	HMEC	breast
30	chr11:8801400-8806400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:8801400-8808200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:8801600-8807000	Weak transcription	Lung	lung
33	chr11:8801600-8807000	Weak transcription	Stomach Mucosa	stomach
34	chr11:8801600-8808200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:8801600-8808200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:8801600-8820000	Weak transcription	HSMMtube	muscle
37	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
38	chr11:8801800-8805400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:8801800-8805400	Weak transcription	Fetal Lung	lung
40	chr11:8801800-8807000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:8801800-8807000	Weak transcription	Small Intestine	intestine
42	chr11:8801800-8808400	Weak transcription	Brain Anterior Caudate	brain
43	chr11:8801800-8808600	Weak transcription	NHEK	skin
44	chr11:8801800-8808800	Weak transcription	Placenta	Placenta
45	chr11:8801800-8814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:8802000-8806800	Weak transcription	Fetal Intestine Large	intestine
47	chr11:8802000-8806800	Weak transcription	HSMM	muscle
48	chr11:8802000-8816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:8802200-8806400	Weak transcription	Fetal Heart	heart
50	chr11:8802200-8808400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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