Variant report

Variant	rs192402443
Chromosome Location	chr2:48756359-48756360
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	ZNF263	chr2:48756209-48758874	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
STON1-GTF2A1L	TF binding region
STON1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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
6	esv3390375	chr2:48755948-48758496	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3359548	chr2:48756073-48758621	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:48728200-48756800	Weak transcription	HMEC	breast
3	chr2:48738000-48756800	Weak transcription	NH-A	brain
4	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:48743200-48756800	Weak transcription	Stomach Mucosa	stomach
6	chr2:48743400-48756400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:48743400-48757400	Weak transcription	Gastric	stomach
9	chr2:48744000-48756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:48744000-48756800	Weak transcription	Colonic Mucosa	Colon
11	chr2:48744600-48756400	Weak transcription	Brain Germinal Matrix	brain
12	chr2:48745600-48756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:48745800-48756400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:48745800-48756400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:48745800-48756400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:48745800-48756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:48746000-48756400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:48746000-48756400	Weak transcription	A549	lung
19	chr2:48746000-48756400	Weak transcription	HSMM	muscle
20	chr2:48746400-48756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:48746800-48756600	Weak transcription	Osteobl	bone
22	chr2:48746800-48756800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:48747000-48756800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:48747000-48756800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:48748200-48756400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:48748200-48756400	Weak transcription	GM12878-XiMat	blood
27	chr2:48748200-48756800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:48748200-48756800	Weak transcription	NHEK	skin
29	chr2:48748600-48756400	Weak transcription	Dnd41	blood
30	chr2:48748800-48756400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:48749400-48756400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:48749400-48756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:48749400-48756400	Weak transcription	Fetal Thymus	thymus
34	chr2:48749400-48756400	Weak transcription	Thymus	Thymus
35	chr2:48749600-48756800	Weak transcription	Liver	Liver
36	chr2:48750000-48756400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:48750000-48756400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:48750200-48756800	Weak transcription	Primary T cells from cord blood	blood
39	chr2:48752800-48756800	Enhancers	Fetal Stomach	stomach
40	chr2:48753000-48756400	Weak transcription	Brain Anterior Caudate	brain
41	chr2:48753000-48756400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:48753200-48756400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:48753200-48756600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:48753200-48757000	Weak transcription	Primary B cells from cord blood	blood
45	chr2:48753400-48756400	Weak transcription	Small Intestine	intestine
46	chr2:48753400-48756600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:48753600-48756400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:48753800-48756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:48753800-48756400	Weak transcription	Aorta	Aorta
50	chr2:48753800-48756400	Weak transcription	Psoas Muscle	Psoas

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