Variant report

Variant	rs565810220
Chromosome Location	chr2:48752644-48752645
allele	A/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	chr2:48752554-48752758	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48752578..48754982-chr2:48756156..48759647,3	K562	blood:
2	chr2:48752578..48754982-chr2:48756701..48759647,2	K562	blood:

Variant related genes	Relation type
STON1-GTF2A1L	TF binding region
STON1	TF binding region
ENSG00000243244	Chromatin interaction
ENSG00000068781	Chromatin interaction

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	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
2	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:48728200-48756800	Weak transcription	HMEC	breast
5	chr2:48736000-48752800	Weak transcription	Small Intestine	intestine
6	chr2:48736400-48753400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:48736400-48754600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:48737800-48756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:48738000-48755400	Weak transcription	HUVEC	blood vessel
10	chr2:48738000-48756800	Weak transcription	NH-A	brain
11	chr2:48738200-48753800	Weak transcription	Hela-S3	cervix
12	chr2:48740000-48754400	Weak transcription	NHLF	lung
13	chr2:48740000-48756000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:48741000-48753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:48742400-48756200	Weak transcription	NHDF-Ad	bronchial
17	chr2:48743000-48754600	Weak transcription	Fetal Kidney	kidney
18	chr2:48743200-48756000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:48743200-48756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:48743200-48756800	Weak transcription	Stomach Mucosa	stomach
21	chr2:48743400-48753000	Weak transcription	Fetal Heart	heart
22	chr2:48743400-48753000	Weak transcription	Right Ventricle	heart
23	chr2:48743400-48756200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:48743400-48756400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:48743400-48757400	Weak transcription	Gastric	stomach
27	chr2:48743800-48752800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:48744000-48756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:48744000-48756800	Weak transcription	Colonic Mucosa	Colon
30	chr2:48744600-48752800	Weak transcription	Pancreas	Pancrea
31	chr2:48744600-48753200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:48744600-48754800	Weak transcription	HSMMtube	muscle
33	chr2:48744600-48756400	Weak transcription	Brain Germinal Matrix	brain
34	chr2:48744800-48755800	Weak transcription	HepG2	liver
35	chr2:48744800-48756200	Weak transcription	Fetal Brain Female	brain
36	chr2:48745200-48756200	Weak transcription	Esophagus	oesophagus
37	chr2:48745600-48752800	Weak transcription	Left Ventricle	heart
38	chr2:48745600-48753000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:48745600-48755200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:48745600-48756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:48745800-48756400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:48745800-48756400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:48745800-48756400	Weak transcription	Brain Angular Gyrus	brain
44	chr2:48745800-48756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:48746000-48752800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:48746000-48753000	Weak transcription	Aorta	Aorta
47	chr2:48746000-48754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:48746000-48754600	Weak transcription	Brain Substantia Nigra	brain
49	chr2:48746000-48755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:48746000-48756400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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