Variant report

Variant	rs371672025
Chromosome Location	chr3:48693270-48693271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48689444..48692588-chr3:48693029..48695522,3	MCF-7	breast:
2	chr3:48631571..48635730-chr3:48691196..48694379,3	K562	blood:

Variant related genes	Relation type
ENSG00000114270	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv3407141	chr3:48692473-48695321	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48673600-48693400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:48674000-48693400	Weak transcription	Fetal Brain Male	brain
3	chr3:48674000-48693600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:48674400-48693600	Weak transcription	Gastric	stomach
5	chr3:48674800-48695600	Weak transcription	Hela-S3	cervix
6	chr3:48675000-48693600	Weak transcription	A549	lung
7	chr3:48675000-48694200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:48675000-48697200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:48680000-48695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:48690600-48693600	Weak transcription	HepG2	liver
11	chr3:48691600-48693400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:48692600-48693400	Enhancers	Lung	lung
13	chr3:48692800-48693400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:48692800-48693400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:48692800-48693400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:48692800-48693400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:48692800-48693400	Enhancers	Esophagus	oesophagus
18	chr3:48692800-48693400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr3:48692800-48693400	Enhancers	Placenta	Placenta
20	chr3:48692800-48693400	Bivalent Enhancer	Fetal Thymus	thymus
21	chr3:48692800-48693400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr3:48692800-48693400	Enhancers	Stomach Mucosa	stomach
23	chr3:48692800-48693600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:48693000-48693400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:48693000-48693400	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:48693000-48693400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:48693000-48693400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:48693000-48693400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:48693000-48693400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr3:48693000-48693400	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr3:48693000-48693400	Enhancers	Left Ventricle	heart
32	chr3:48693000-48693400	Flanking Active TSS	Thymus	Thymus
33	chr3:48693000-48693600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:48693000-48693600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:48693000-48693600	Enhancers	GM12878-XiMat	blood
36	chr3:48693000-48693600	Enhancers	HMEC	breast
37	chr3:48693000-48693600	Enhancers	HUVEC	blood vessel
38	chr3:48693000-48694000	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr3:48693000-48694200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr3:48693000-48694400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:48693000-48694400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr3:48693000-48694400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:48693000-48694400	Active TSS	Brain Cingulate Gyrus	brain
44	chr3:48693000-48694400	Active TSS	Brain Hippocampus Middle	brain
45	chr3:48693000-48694400	Active TSS	Colon Smooth Muscle	Colon
46	chr3:48693000-48694400	Active TSS	Osteobl	bone
47	chr3:48693000-48694800	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr3:48693200-48693400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:48693200-48693400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:48693200-48693400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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