Variant report

Variant	rs376782286
Chromosome Location	chr8:52773723-52773724
allele	A/C
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	GATA2	chr8:52773418-52773723	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
PCMTD1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv526922	chr8:52772515-52786791	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:52733800-52776400	Weak transcription	GM12878-XiMat	blood
3	chr8:52739800-52782600	Weak transcription	K562	blood
4	chr8:52759000-52786200	Weak transcription	Lung	lung
5	chr8:52759200-52786200	Weak transcription	Spleen	Spleen
6	chr8:52763800-52781800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:52764000-52774600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:52764000-52779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:52764000-52781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:52764000-52783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:52764000-52793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:52764200-52779000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:52764200-52782400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:52764600-52776800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:52766400-52775200	Weak transcription	Left Ventricle	heart
16	chr8:52767400-52796600	Weak transcription	Fetal Brain Male	brain
17	chr8:52768000-52773800	Strong transcription	Dnd41	blood
18	chr8:52768200-52773800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:52768400-52774000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:52768600-52780200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:52768800-52773800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:52769000-52774200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:52769000-52774200	Strong transcription	Fetal Intestine Large	intestine
24	chr8:52769400-52777600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:52769800-52781200	Weak transcription	Hela-S3	cervix
26	chr8:52769800-52782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:52769800-52785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:52769800-52793600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:52770200-52775000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:52770400-52773800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:52771000-52797800	Weak transcription	Fetal Stomach	stomach
32	chr8:52771200-52773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:52771800-52774800	Weak transcription	Brain Anterior Caudate	brain
34	chr8:52771800-52775200	Weak transcription	Small Intestine	intestine
35	chr8:52771800-52776200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:52771800-52777600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:52771800-52779000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:52771800-52779200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:52771800-52782600	Weak transcription	NHLF	lung
40	chr8:52771800-52786200	Weak transcription	Gastric	stomach
41	chr8:52771800-52797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
43	chr8:52772000-52773800	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:52772000-52775000	Weak transcription	Fetal Brain Female	brain
45	chr8:52772000-52781800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:52772000-52783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:52772000-52783800	Weak transcription	Ovary	ovary
48	chr8:52772200-52775400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:52772200-52777400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:52772200-52777400	Weak transcription	Adipose Nuclei	Adipose

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