Variant report

Variant	rs375247514
Chromosome Location	chr2:48062262-48062263
allele	G/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	POLR2A	chr2:48062239-48062324	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48025230..48027747-chr2:48061113..48063093,2	K562	blood:

Variant related genes	Relation type
FBXO11	TF binding region
ENSG00000235369	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription 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	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
6	nsv962066	chr2:48061837-48072383	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:48021400-48067600	Strong transcription	Dnd41	blood
3	chr2:48021600-48067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:48023200-48065000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:48030200-48067600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:48030400-48067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:48030800-48067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:48030800-48067000	Strong transcription	Fetal Thymus	thymus
9	chr2:48031000-48067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:48031000-48067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:48031000-48067200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:48031200-48065800	Strong transcription	Liver	Liver
13	chr2:48031200-48066800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:48031400-48066800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:48031400-48067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:48031400-48067800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:48031400-48067800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:48031400-48072600	Weak transcription	Stomach Mucosa	stomach
19	chr2:48032200-48067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:48032400-48066800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:48032400-48068400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:48033600-48067000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:48033800-48067400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:48036000-48067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:48038200-48071400	Weak transcription	Fetal Heart	heart
26	chr2:48038400-48066600	Strong transcription	Adipose Nuclei	Adipose
27	chr2:48040400-48068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:48042000-48067800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:48043200-48066800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
31	chr2:48043600-48067000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:48044800-48071000	Weak transcription	Fetal Brain Male	brain
33	chr2:48045800-48071600	Weak transcription	Aorta	Aorta
34	chr2:48047800-48067400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:48048200-48072400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:48048400-48070000	Weak transcription	Small Intestine	intestine
37	chr2:48048600-48063200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:48048600-48080600	Weak transcription	NHLF	lung
39	chr2:48049200-48063200	Weak transcription	Colonic Mucosa	Colon
40	chr2:48049200-48070000	Weak transcription	Brain Substantia Nigra	brain
41	chr2:48049200-48096000	Weak transcription	Gastric	stomach
42	chr2:48050200-48072400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:48051200-48067000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:48051400-48067000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:48051600-48073400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:48052000-48067000	Strong transcription	Placenta	Placenta
47	chr2:48052800-48067000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:48053000-48066400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:48053400-48064600	Weak transcription	Right Ventricle	heart
50	chr2:48053600-48066200	Strong transcription	Duodenum Mucosa	Duodenum

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