Variant report

Variant	rs7010516
Chromosome Location	chr8:42853302-42853303
allele	C/G
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	POLR2A	chr8:42853278-42853373	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
HOOK3	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16891667	0.98[AFR][1000 genomes]
rs41411348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55870161	0.93[AFR][1000 genomes]
rs62515949	0.84[AFR][1000 genomes]
rs73675445	1.00[AFR][1000 genomes];1.00[AMR][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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats 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 miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
4	chr8:42830800-42865400	Weak transcription	NHLF	lung
5	chr8:42830800-42865800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:42831600-42865800	Weak transcription	Right Ventricle	heart
7	chr8:42831800-42872200	Weak transcription	Gastric	stomach
8	chr8:42838200-42865800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:42838200-42872200	Weak transcription	K562	blood
10	chr8:42839000-42858200	Weak transcription	Small Intestine	intestine
11	chr8:42839000-42866400	Weak transcription	Pancreas	Pancrea
12	chr8:42840200-42866000	Weak transcription	Spleen	Spleen
13	chr8:42840200-42866600	Weak transcription	HepG2	liver
14	chr8:42841800-42860200	Strong transcription	Liver	Liver
15	chr8:42844200-42857400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:42844200-42865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:42844400-42866600	Weak transcription	Esophagus	oesophagus
18	chr8:42844600-42873200	Weak transcription	HMEC	breast
19	chr8:42844800-42865000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:42846200-42865600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:42846400-42864600	Weak transcription	NHDF-Ad	bronchial
22	chr8:42846800-42858800	Weak transcription	Brain Angular Gyrus	brain
23	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:42847200-42864200	Weak transcription	HSMMtube	muscle
25	chr8:42847200-42864400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:42847200-42865800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:42847200-42867200	Weak transcription	Colonic Mucosa	Colon
28	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:42847400-42857400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:42847400-42866200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:42847400-42875400	Weak transcription	Psoas Muscle	Psoas
32	chr8:42847600-42857200	Weak transcription	Left Ventricle	heart
33	chr8:42847800-42857400	Weak transcription	Ovary	ovary
34	chr8:42847800-42859400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:42848000-42853600	Strong transcription	Fetal Lung	lung
36	chr8:42848000-42855000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:42848000-42857400	Weak transcription	Fetal Intestine Large	intestine
38	chr8:42848000-42860600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:42848200-42853400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:42848200-42858400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:42848200-42859000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:42848200-42865000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:42848200-42865200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:42848400-42858200	Weak transcription	Brain Substantia Nigra	brain
45	chr8:42848400-42865600	Weak transcription	GM12878-XiMat	blood
46	chr8:42848400-42877200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:42848400-42879600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:42848600-42853600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:42848600-42857200	Weak transcription	Brain Anterior Caudate	brain
50	chr8:42848600-42858400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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