Variant report

Variant	rs147684853
Chromosome Location	chr2:48756421-48756422
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	ZNF263	chr2:48756209-48758874	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr2:48756374-48756603	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:48756403-48756429	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
STON1	TF binding region
STON1-GTF2A1L	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:121 , 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	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:48743400-48757400	Weak transcription	Gastric	stomach
8	chr2:48744000-48756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:48744000-48756800	Weak transcription	Colonic Mucosa	Colon
10	chr2:48745600-48756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:48746800-48756600	Weak transcription	Osteobl	bone
12	chr2:48746800-48756800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:48747000-48756800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:48747000-48756800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:48748200-48756800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:48748200-48756800	Weak transcription	NHEK	skin
17	chr2:48749600-48756800	Weak transcription	Liver	Liver
18	chr2:48750200-48756800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:48752800-48756800	Enhancers	Fetal Stomach	stomach
20	chr2:48753200-48756600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:48753200-48757000	Weak transcription	Primary B cells from cord blood	blood
22	chr2:48753400-48756600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:48754400-48756600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:48754400-48756600	Weak transcription	K562	blood
25	chr2:48754800-48756800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:48754800-48756800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:48754800-48756800	Enhancers	Fetal Muscle Leg	muscle
28	chr2:48754800-48756800	Enhancers	Placenta	Placenta
29	chr2:48755200-48756800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:48755200-48756800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:48755200-48756800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:48755200-48756800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:48755200-48756800	Weak transcription	HSMMtube	muscle
34	chr2:48755400-48756600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:48755400-48756600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:48755400-48756800	Enhancers	HUVEC	blood vessel
37	chr2:48755600-48756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:48755600-48756800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:48755800-48756800	Enhancers	Adipose Nuclei	Adipose
40	chr2:48755800-48756800	Enhancers	Right Ventricle	heart
41	chr2:48756000-48756600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:48756000-48756600	Enhancers	Ovary	ovary
43	chr2:48756000-48756600	Enhancers	Right Atrium	heart
44	chr2:48756000-48756600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr2:48756000-48756800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:48756000-48756800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:48756000-48756800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:48756000-48756800	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:48756000-48756800	Enhancers	Left Ventricle	heart
50	chr2:48756200-48756600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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