Variant report

Variant	rs564091434
Chromosome Location	chr2:114082577-114082578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114081925..114084093-chr2:114086383..114088538,3	MCF-7	breast:
2	chr14:96000768..96001608-chr2:114082065..114082796,2	HCT-116	colon:
3	chr2:114081798..114083531-chr2:114086995..114089661,2	K562	blood:

Variant related genes	Relation type
ENSG00000247092	Chromatin interaction
ENSG00000182512	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv10129	chr2:114080875-114082808	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114081200-114082600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:114081600-114082600	Enhancers	Lung	lung
3	chr2:114081600-114083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:114081800-114082600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr2:114081800-114082600	Active TSS	Fetal Kidney	kidney
6	chr2:114081800-114082800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:114082000-114082600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr2:114082000-114082600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:114082000-114082600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:114082000-114082600	Enhancers	Stomach Mucosa	stomach
11	chr2:114082000-114082800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:114082000-114082800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:114082000-114083000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:114082000-114083000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:114082000-114083000	Active TSS	Colon Smooth Muscle	Colon
16	chr2:114082000-114083000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:114082000-114083000	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr2:114082000-114083000	Active TSS	Ovary	ovary
19	chr2:114082000-114083000	Active TSS	Pancreas	Pancrea
20	chr2:114082000-114083000	Active TSS	Placenta Amnion	Placenta Amnion
21	chr2:114082000-114083000	Flanking Active TSS	Dnd41	blood
22	chr2:114082000-114083200	Enhancers	Primary T cells from cord blood	blood
23	chr2:114082000-114083200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr2:114082000-114083400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:114082000-114083400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:114082000-114083400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:114082000-114083400	Enhancers	Spleen	Spleen
28	chr2:114082200-114082600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:114082200-114082600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:114082200-114082600	Active TSS	Primary B cells from cord blood	blood
31	chr2:114082200-114082600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:114082200-114082600	Active TSS	Psoas Muscle	Psoas
33	chr2:114082200-114082600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr2:114082200-114082800	Active TSS	Thymus	Thymus
35	chr2:114082200-114083000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:114082200-114083000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:114082200-114083000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr2:114082200-114083000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:114082200-114083000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:114082200-114083000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:114082200-114083000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:114082200-114083000	Active TSS	Colonic Mucosa	Colon
43	chr2:114082200-114083000	Active TSS	Duodenum Mucosa	Duodenum
44	chr2:114082200-114083000	Active TSS	Fetal Intestine Small	intestine
45	chr2:114082200-114083000	Active TSS	Left Ventricle	heart
46	chr2:114082200-114083000	Active TSS	Right Atrium	heart
47	chr2:114082200-114083000	Active TSS	HSMM	muscle
48	chr2:114082200-114083000	Active TSS	NHDF-Ad	bronchial
49	chr2:114082200-114083200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr2:114082200-114083200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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