Variant report

Variant	rs143486992
Chromosome Location	chr2:54331226-54331227
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	chr2:54330146..54332373-chr2:54340352..54345020,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1010175	chr2:54292951-54343466	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv1851003	chr2:54324701-54372931	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 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	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:54324000-54333400	Enhancers	Primary B cells from cord blood	blood
3	chr2:54324000-54334400	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:54325800-54334400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:54326000-54334000	Weak transcription	Brain Substantia Nigra	brain
6	chr2:54329000-54332400	Enhancers	Hela-S3	cervix
7	chr2:54329400-54331600	Enhancers	NHDF-Ad	bronchial
8	chr2:54329800-54331400	Enhancers	Osteobl	bone
9	chr2:54329800-54332000	Enhancers	HMEC	breast
10	chr2:54330000-54331400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:54330000-54331400	Enhancers	NHLF	lung
12	chr2:54330000-54331600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:54330000-54331800	Enhancers	NHEK	skin
14	chr2:54330000-54332400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:54330200-54332400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:54330400-54331400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:54330400-54331600	Enhancers	HUVEC	blood vessel
18	chr2:54330600-54331400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:54330600-54331400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:54330600-54331400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:54330600-54331400	Enhancers	Adipose Nuclei	Adipose
22	chr2:54330600-54331400	Enhancers	NH-A	brain
23	chr2:54330800-54331400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:54330800-54331400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:54330800-54331400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:54330800-54331400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:54330800-54331400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:54330800-54331400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:54330800-54331400	Enhancers	Brain Hippocampus Middle	brain
30	chr2:54330800-54331400	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:54330800-54331400	Enhancers	GM12878-XiMat	blood
32	chr2:54330800-54331600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:54330800-54331800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:54330800-54331800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:54330800-54332000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:54330800-54332400	Enhancers	Liver	Liver
37	chr2:54331000-54331400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:54331000-54331400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:54331000-54331400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:54331000-54331400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:54331000-54331400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:54331000-54331400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:54331000-54331400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:54331000-54331400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:54331000-54331400	Enhancers	Aorta	Aorta
46	chr2:54331000-54331400	Enhancers	Brain Anterior Caudate	brain
47	chr2:54331000-54331400	Enhancers	Fetal Heart	heart
48	chr2:54331000-54331400	Enhancers	Fetal Muscle Leg	muscle
49	chr2:54331000-54331400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:54331000-54331400	Enhancers	Right Ventricle	heart

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