Variant report

Variant	rs539531058
Chromosome Location	chr2:10424442-10424443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10423049..10425763-chr20:46130120..46132260,2	MCF-7	breast:
2	chr2:10424312..10426665-chr2:10442705..10445320,2	K562	blood:
3	chr2:10423718..10426925-chr2:10546888..10550753,3	MCF-7	breast:
4	chr2:10423354..10425763-chr2:10586960..10588617,2	K562	blood:
5	chr2:10423331..10426574-chr2:10438305..10440403,3	K562	blood:
6	chr2:10412779..10415250-chr2:10424064..10426883,2	MCF-7	breast:
7	chr2:10414107..10415744-chr2:10422290..10425033,2	K562	blood:
8	chr2:10410318..10412062-chr2:10423255..10425080,2	K562	blood:
9	chr2:10407016..10409073-chr2:10423584..10425357,2	K562	blood:
10	chr2:10421994..10428607-chr2:10439137..10445249,17	MCF-7	breast:
11	chr2:10421389..10428688-chr2:10440606..10446723,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000115756	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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2762357	chr2:10401309-10426323	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3382581	chr2:10424239-10424743	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10418400-10424800	Weak transcription	Right Ventricle	heart
2	chr2:10418800-10424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:10419200-10424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:10419200-10424800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:10419200-10425400	Weak transcription	Colonic Mucosa	Colon
6	chr2:10419600-10425400	Weak transcription	Pancreas	Pancrea
7	chr2:10420400-10425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:10421600-10426200	Enhancers	K562	blood
9	chr2:10421800-10429400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:10422000-10425600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:10422000-10427200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:10422200-10425400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:10422200-10425600	Enhancers	HSMM	muscle
14	chr2:10422200-10427000	Enhancers	NHDF-Ad	bronchial
15	chr2:10422200-10427800	Enhancers	HMEC	breast
16	chr2:10422400-10425600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:10422400-10425600	Enhancers	A549	lung
18	chr2:10422400-10426400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:10422400-10426800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:10422400-10427000	Enhancers	NH-A	brain
21	chr2:10422400-10427000	Enhancers	Osteobl	bone
22	chr2:10422600-10425800	Enhancers	Brain Hippocampus Middle	brain
23	chr2:10422600-10426800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:10422600-10427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:10422800-10426000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:10422800-10427200	Enhancers	Adipose Nuclei	Adipose
27	chr2:10422800-10427400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:10422800-10427400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:10422800-10427400	Enhancers	Brain Substantia Nigra	brain
30	chr2:10422800-10427600	Enhancers	Brain Anterior Caudate	brain
31	chr2:10422800-10428000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:10423000-10425200	Enhancers	HepG2	liver
33	chr2:10423000-10425600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:10423000-10426400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:10423000-10426400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:10423000-10426800	Enhancers	HUVEC	blood vessel
37	chr2:10423000-10427400	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:10423000-10427600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:10423200-10425400	Weak transcription	Lung	lung
40	chr2:10423200-10425400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:10423200-10426800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:10423400-10425200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:10423400-10425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:10423400-10425400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:10423400-10426800	Enhancers	Spleen	Spleen
46	chr2:10423400-10427000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:10423400-10429800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:10423600-10424800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:10423600-10425200	Weak transcription	Fetal Intestine Small	intestine
50	chr2:10423600-10427200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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