Variant report

Variant	rs530522759
Chromosome Location	chr2:55475468-55475469
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	chr2:55475194..55477770-chr2:55494963..55497132,2	MCF-7	breast:
2	chr2:55469201..55471074-chr2:55473270..55475726,2	K562	blood:

Variant related genes	Relation type
ENSG00000085760	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461400-55477600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55461600-55477000	Strong transcription	Fetal Muscle Leg	muscle
3	chr2:55461600-55481600	Strong transcription	Fetal Thymus	thymus
4	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
6	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
8	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:55462200-55490200	Weak transcription	Small Intestine	intestine
10	chr2:55462400-55476800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:55462400-55476800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:55462600-55485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:55463000-55477600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:55463000-55480200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:55463000-55481000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:55463200-55481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:55463400-55475800	Weak transcription	Spleen	Spleen
19	chr2:55463400-55488200	Weak transcription	Pancreas	Pancrea
20	chr2:55463600-55483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:55463800-55479600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:55463800-55486200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:55463800-55490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:55463800-55494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:55464000-55476200	Weak transcription	Fetal Kidney	kidney
27	chr2:55464400-55476200	Weak transcription	Brain Angular Gyrus	brain
28	chr2:55464400-55479600	Weak transcription	NHLF	lung
29	chr2:55464600-55475600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:55464600-55476200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:55464600-55476200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:55464600-55479400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:55465400-55490600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:55465600-55486000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:55465600-55494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:55465800-55476400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:55465800-55477600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:55466000-55493200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:55466200-55476600	Strong transcription	Fetal Lung	lung
41	chr2:55468000-55477600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:55468200-55493400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:55468400-55493200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:55468400-55494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:55468600-55476800	Strong transcription	Dnd41	blood
46	chr2:55468600-55494400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:55468800-55476400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:55468800-55476800	Strong transcription	HepG2	liver
49	chr2:55468800-55477000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:55468800-55477000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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