Variant report

Variant	rs2006279
Chromosome Location	chr2:10420601-10420602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
2	chr2:10417286..10420663-chr2:10441133..10444822,4	MCF-7	breast:
3	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2006278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62128508	0.85[ASN][1000 genomes]

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	nsv873640	chr2:10385097-10422342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10412000-10423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:10412400-10422200	Weak transcription	Hela-S3	cervix
3	chr2:10417200-10422800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:10418200-10422800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:10418200-10423000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10418400-10422600	Weak transcription	Lung	lung
7	chr2:10418400-10424800	Weak transcription	Right Ventricle	heart
8	chr2:10418600-10422800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:10418800-10424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:10419000-10423000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:10419200-10422200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:10419200-10422400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:10419200-10422400	Weak transcription	A549	lung
14	chr2:10419200-10422400	Weak transcription	NH-A	brain
15	chr2:10419200-10422600	Weak transcription	NHLF	lung
16	chr2:10419200-10422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:10419200-10422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:10419200-10422800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:10419200-10422800	Weak transcription	Gastric	stomach
20	chr2:10419200-10423000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:10419200-10424000	Weak transcription	Primary B cells from cord blood	blood
22	chr2:10419200-10424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:10419200-10424800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:10419200-10425400	Weak transcription	Colonic Mucosa	Colon
25	chr2:10419400-10422600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:10419600-10421800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:10419600-10422200	Weak transcription	NHDF-Ad	bronchial
28	chr2:10419600-10422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:10419600-10422600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:10419600-10425400	Weak transcription	Pancreas	Pancrea
31	chr2:10419800-10421600	Weak transcription	K562	blood
32	chr2:10419800-10422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:10419800-10422400	Weak transcription	Osteobl	bone
34	chr2:10419800-10422600	Weak transcription	Fetal Intestine Large	intestine
35	chr2:10419800-10423000	Weak transcription	Fetal Intestine Small	intestine
36	chr2:10420000-10421800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:10420000-10422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:10420000-10422600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:10420000-10422800	Weak transcription	HSMMtube	muscle
40	chr2:10420200-10422000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:10420400-10422200	Weak transcription	Spleen	Spleen
42	chr2:10420400-10422200	Weak transcription	HSMM	muscle
43	chr2:10420400-10422800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:10420400-10423000	Weak transcription	HepG2	liver
45	chr2:10420400-10425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:10420600-10422400	Weak transcription	Liver	Liver

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