Variant report

Variant	rs45460291
Chromosome Location	chr8:48945771-48945772
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48938195..48942344-chr8:48943305..48947689,4	K562	blood:
2	chr8:48943545..48946467-chr8:48947944..48950254,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3829985	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4873773	0.85[ASN][1000 genomes]
rs8178129	1.00[AFR][1000 genomes]
rs8178148	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs8178232	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv968508	chr8:48924846-48957474	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48921600-48956000	Weak transcription	Esophagus	oesophagus
2	chr8:48921600-48957400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:48921800-48957400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:48921800-48957400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:48921800-48957400	Weak transcription	Stomach Mucosa	stomach
6	chr8:48921800-48960600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:48921800-48966800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:48922000-48957600	Weak transcription	Colonic Mucosa	Colon
9	chr8:48922200-48947400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:48922400-48955600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:48922400-48957800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:48922400-48958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:48922400-48975400	Weak transcription	Fetal Brain Male	brain
14	chr8:48922600-48955800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:48922600-48956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:48922600-48956200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:48922600-48956600	Weak transcription	Brain Anterior Caudate	brain
18	chr8:48922600-48956800	Weak transcription	NHLF	lung
19	chr8:48922600-48957800	Weak transcription	HUVEC	blood vessel
20	chr8:48924600-48953800	Weak transcription	Pancreas	Pancrea
21	chr8:48925000-48957600	Weak transcription	HSMMtube	muscle
22	chr8:48932800-48957200	Weak transcription	Spleen	Spleen
23	chr8:48933000-48947400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:48933000-48956000	Weak transcription	Right Ventricle	heart
25	chr8:48933000-48956600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:48933000-48956800	Weak transcription	Gastric	stomach
27	chr8:48933200-48956000	Weak transcription	Fetal Kidney	kidney
28	chr8:48933200-48956200	Weak transcription	Brain Angular Gyrus	brain
29	chr8:48933400-48955800	Weak transcription	HMEC	breast
30	chr8:48933400-48956000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:48934400-48949400	Weak transcription	GM12878-XiMat	blood
32	chr8:48934600-48956600	Weak transcription	Ovary	ovary
33	chr8:48934800-48955800	Weak transcription	Fetal Brain Female	brain
34	chr8:48934800-48956000	Weak transcription	HSMM	muscle
35	chr8:48935000-48956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:48935000-48956000	Weak transcription	Lung	lung
37	chr8:48935000-48957000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:48935000-48957400	Weak transcription	NHEK	skin
39	chr8:48935200-48956000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:48935200-48963000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:48935400-48949800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr8:48935400-48955600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:48935400-48956000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:48935400-48956000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:48935400-48956000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:48935400-48956000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:48935400-48956800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:48935600-48946400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:48935600-48947200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:48935600-48948000	Weak transcription	Thymus	Thymus

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