Variant report

Variant	rs540254216
Chromosome Location	chr3:119697585-119697586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	esv3445191	chr3:119697110-119709166	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:119656400-119700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:119656600-119718400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:119662400-119700400	Weak transcription	Fetal Intestine Large	intestine
5	chr3:119664600-119700200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:119664600-119702400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:119665800-119716800	Weak transcription	HSMM	muscle
8	chr3:119666000-119703000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:119666200-119700200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:119666200-119700400	Weak transcription	Fetal Thymus	thymus
11	chr3:119681200-119723200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:119681800-119700400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:119681800-119700800	Weak transcription	Ovary	ovary
14	chr3:119682000-119697600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:119682000-119698000	Weak transcription	Dnd41	blood
16	chr3:119682000-119700400	Weak transcription	Primary B cells from cord blood	blood
17	chr3:119682400-119700200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:119683600-119701800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:119684600-119699600	Weak transcription	Fetal Kidney	kidney
20	chr3:119687200-119716600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:119688200-119700400	Weak transcription	Pancreas	Pancrea
22	chr3:119689000-119710600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:119689000-119711800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:119689000-119722600	Weak transcription	Gastric	stomach
25	chr3:119689400-119697600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:119689800-119701600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:119692400-119701200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:119692400-119717000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:119692400-119723200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:119692600-119700000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:119693000-119700600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr3:119693600-119732200	Weak transcription	A549	lung
33	chr3:119694800-119700600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:119695400-119699400	Weak transcription	Fetal Lung	lung
35	chr3:119696200-119698000	Enhancers	HSMMtube	muscle
36	chr3:119696200-119698400	Enhancers	Psoas Muscle	Psoas
37	chr3:119696200-119698400	Enhancers	Right Ventricle	heart
38	chr3:119696200-119698400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr3:119696200-119698400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr3:119696400-119697600	Weak transcription	Small Intestine	intestine
41	chr3:119696400-119697600	Weak transcription	GM12878-XiMat	blood
42	chr3:119696400-119700400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:119696400-119701400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:119696400-119703400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:119696400-119708800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:119696400-119709200	Weak transcription	HMEC	breast
47	chr3:119696800-119697600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:119696800-119698200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:119696800-119703400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:119697000-119698400	Strong transcription	Fetal Intestine Small	intestine

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