Variant report

Variant	rs531964978
Chromosome Location	chr3:120441633-120441634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers 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	22 gene(s)	inside rSNPs	diseases
6	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv965203	chr3:120441087-120449682	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120398800-120442200	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:120416400-120460600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:120416800-120460600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:120417600-120456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:120419000-120450800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:120422200-120446800	Weak transcription	Ovary	ovary
8	chr3:120422400-120444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:120423000-120460200	Weak transcription	HUVEC	blood vessel
10	chr3:120423600-120447200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:120424400-120446800	Weak transcription	Fetal Intestine Large	intestine
12	chr3:120424600-120450200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:120425000-120451200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:120425000-120456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:120425600-120446600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:120428400-120446800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:120428400-120448000	Weak transcription	Osteobl	bone
18	chr3:120428600-120449200	Weak transcription	Placenta	Placenta
19	chr3:120429200-120456200	Weak transcription	Liver	Liver
20	chr3:120430000-120446600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:120438200-120445800	Weak transcription	A549	lung
22	chr3:120438200-120447600	Weak transcription	GM12878-XiMat	blood
23	chr3:120438400-120446800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:120438400-120447000	Weak transcription	Psoas Muscle	Psoas
25	chr3:120438400-120449600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:120438400-120456200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:120438400-120457600	Weak transcription	Fetal Lung	lung
28	chr3:120438400-120460200	Weak transcription	NHEK	skin
29	chr3:120438400-120460600	Weak transcription	Brain Anterior Caudate	brain
30	chr3:120438400-120460600	Weak transcription	Right Ventricle	heart
31	chr3:120438600-120444800	Weak transcription	Fetal Stomach	stomach
32	chr3:120438600-120446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:120438600-120446800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:120438600-120448800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:120438600-120449000	Weak transcription	Adipose Nuclei	Adipose
36	chr3:120438600-120449200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:120438600-120449200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:120438600-120449400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:120438600-120449400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:120438600-120450200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:120438600-120451600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:120438600-120456200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:120438600-120456400	Weak transcription	Left Ventricle	heart
44	chr3:120438600-120456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:120438600-120457000	Weak transcription	Spleen	Spleen
46	chr3:120438600-120457200	Weak transcription	Pancreas	Pancrea
47	chr3:120438600-120460000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:120438600-120460400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:120439000-120456400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr3:120439000-120456600	Weak transcription	Lung	lung

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