Variant report

Variant	rs6601272
Chromosome Location	chr8:8794251-8794252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr8:8794234-8794497	Hela-S3	cervix:	n/a	chr8:8794375-8794386

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8792434..8796663-chr8:8799601..8802595,4	K562	blood:
2	chr8:8791750..8794485-chr8:8798173..8800628,2	K562	blood:

Variant related genes	Relation type
ENSG00000270966	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1652817	0.85[ASN][1000 genomes]
rs1705172	0.85[ASN][1000 genomes]
rs17154962	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405613	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941658	0.85[ASN][1000 genomes]
rs373458	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381241	0.90[ASN][1000 genomes]
rs4840374	0.85[ASN][1000 genomes]
rs58006063	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58100684	0.89[EUR][1000 genomes]
rs58357866	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601271	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6987224	0.80[EUR][1000 genomes]
rs6987388	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7007974	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7008005	0.80[EUR][1000 genomes]
rs7018277	0.85[ASN][1000 genomes]
rs73514346	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73526088	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73526096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73528003	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826585	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7834310	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7841628	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9650627	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv275140	chr8:8793969-8796831	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8779600-8799800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:8780600-8799800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:8781000-8799800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:8782400-8799800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:8784800-8795800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:8788200-8796400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:8791600-8799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:8792400-8800200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:8792600-8798600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:8792800-8794800	Enhancers	K562	blood
14	chr8:8793000-8802600	Weak transcription	Small Intestine	intestine
15	chr8:8793200-8795400	Weak transcription	Fetal Thymus	thymus
16	chr8:8793200-8795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:8793200-8796200	Weak transcription	Esophagus	oesophagus
18	chr8:8793200-8796200	Weak transcription	Left Ventricle	heart
19	chr8:8793200-8797000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:8793200-8797400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:8793400-8795400	Weak transcription	Liver	Liver
22	chr8:8793400-8795600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:8793400-8795800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:8793400-8796000	Weak transcription	Thymus	Thymus
25	chr8:8793400-8804200	Weak transcription	Right Atrium	heart
26	chr8:8793600-8794400	Enhancers	Right Ventricle	heart
27	chr8:8793600-8794400	Enhancers	Spleen	Spleen
28	chr8:8793800-8794400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:8793800-8794400	Enhancers	Brain Anterior Caudate	brain
30	chr8:8793800-8795800	Weak transcription	Fetal Brain Male	brain
31	chr8:8794000-8794600	Enhancers	Dnd41	blood
32	chr8:8794000-8795600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:8794000-8796000	Weak transcription	Adipose Nuclei	Adipose
34	chr8:8794000-8798600	Weak transcription	Placenta	Placenta
35	chr8:8794200-8794400	Enhancers	Fetal Brain Female	brain
36	chr8:8794200-8794600	Enhancers	Brain Hippocampus Middle	brain
37	chr8:8794200-8796000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:8794200-8807200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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