Variant report

Variant	rs556206938
Chromosome Location	chr2:46762108-46762109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46761516..46767079-chr2:46767675..46771202,5	MCF-7	breast:
2	chr2:46761089..46765156-chr2:46769193..46772808,5	K562	blood:
3	chr2:46760904..46763174-chr2:46763774..46765931,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1E2-5	chr2:46761439-46763066	NONHSAT070508

Variant related genes	Relation type
ENSG00000119729	Chromatin interaction
ENSG00000250565	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	esv3422495	chr2:46761899-46769356	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46746400-46762800	Weak transcription	Liver	Liver
2	chr2:46747800-46766800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:46748800-46766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:46748800-46767800	Weak transcription	HSMM	muscle
5	chr2:46748800-46768400	Weak transcription	Ovary	ovary
6	chr2:46752000-46766000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:46753000-46767800	Weak transcription	Placenta	Placenta
8	chr2:46753600-46768000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:46755800-46767800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:46756000-46766400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:46756400-46762200	Weak transcription	Thymus	Thymus
12	chr2:46756400-46768200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:46756600-46767800	Weak transcription	Pancreas	Pancrea
14	chr2:46757000-46764200	Weak transcription	Left Ventricle	heart
15	chr2:46757800-46765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:46760200-46768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:46760600-46767200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:46760800-46766800	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:46760800-46767800	Weak transcription	Fetal Lung	lung
20	chr2:46761000-46767800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:46761200-46762600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:46761200-46763600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:46761200-46763800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:46761200-46764000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:46761200-46767800	Weak transcription	NHEK	skin
26	chr2:46761200-46768600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:46761200-46768800	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:46761400-46763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:46761400-46768200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:46761600-46762400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr2:46761600-46763000	Flanking Active TSS	GM12878-XiMat	blood
32	chr2:46761600-46763200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr2:46761600-46763400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:46761600-46765400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:46761600-46768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:46761800-46762200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr2:46761800-46762200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr2:46761800-46762200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr2:46761800-46762200	Enhancers	K562	blood
40	chr2:46761800-46762400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr2:46761800-46762400	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:46761800-46762600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:46761800-46762600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:46761800-46762600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:46761800-46762800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr2:46761800-46763200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr2:46761800-46763200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr2:46761800-46763200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:46761800-46763400	Enhancers	Fetal Thymus	thymus
50	chr2:46761800-46763400	Enhancers	Dnd41	blood

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