Variant report

Variant	rs544064395
Chromosome Location	chr2:112871114-112871115
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112861922..112863771-chr2:112870314..112872058,2	K562	blood:

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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1816289	chr2:112870757-112873202	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1849523	chr2:112870757-112873202	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1851235	chr2:112870757-112873748	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1800280	chr2:112870757-112874176	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1801525	chr2:112870840-112874062	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr2:112822800-112876800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:112834600-112871200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:112836000-112874400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112845400-112875200	Weak transcription	Right Ventricle	heart
7	chr2:112851200-112881600	Weak transcription	Stomach Mucosa	stomach
8	chr2:112852000-112871200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:112853200-112871200	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr2:112853200-112871200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:112853400-112871200	Strong transcription	Placenta	Placenta
12	chr2:112855400-112871200	Strong transcription	NH-A	brain
13	chr2:112856800-112874200	Weak transcription	Lung	lung
14	chr2:112856800-112875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:112856800-112881800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:112857000-112883000	Weak transcription	Hela-S3	cervix
17	chr2:112857000-112891200	Weak transcription	Small Intestine	intestine
18	chr2:112857200-112877600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:112859600-112877200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:112860200-112871200	Strong transcription	Osteobl	bone
21	chr2:112863800-112871200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:112865400-112871200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:112866200-112879000	Weak transcription	Psoas Muscle	Psoas
24	chr2:112866600-112871600	Weak transcription	Fetal Brain Male	brain
25	chr2:112866800-112871200	Strong transcription	Adipose Nuclei	Adipose
26	chr2:112866800-112871200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr2:112867000-112871200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:112867000-112871200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:112867000-112871200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:112867200-112871200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:112867200-112871200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:112867200-112871200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:112867200-112871200	Strong transcription	HUVEC	blood vessel
34	chr2:112867200-112871200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:112867200-112874400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:112867200-112877200	Weak transcription	Brain Substantia Nigra	brain
37	chr2:112867200-112880400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:112867400-112871200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:112867400-112871200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:112867400-112871200	Strong transcription	Primary T cells from cord blood	blood
41	chr2:112867400-112871200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:112867600-112871200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:112867600-112871200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:112867600-112871200	Strong transcription	Ovary	ovary
45	chr2:112867600-112882600	Weak transcription	Fetal Stomach	stomach
46	chr2:112867800-112871200	Strong transcription	Primary B cells from cord blood	blood
47	chr2:112867800-112871200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:112867800-112871400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:112867800-112871600	Weak transcription	Brain Germinal Matrix	brain
50	chr2:112867800-112874400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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