Variant report

Variant	rs13008848
Chromosome Location	chr2:190445284-190445285
allele	C/G
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190305927..190307629-chr2:190443635..190445286,2	K562	blood:
2	chr2:190443338..190447714-chr2:190524367..190527732,5	K562	blood:
3	chr12:27090571..27091515-chr2:190444974..190445653,2	NB4	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSGEPL1-3	chr2:190445144-190445509	NONHSAT076055
2	lnc-OSGEPL1-3	chr2:190445145-190445537	NONHSAT076057
3	lnc-OSGEPL1-3	chr2:190445145-190445288	NONHSAT076056

No data

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction
ENSG00000064102	Chromatin interaction
ENSG00000138381	Chromatin interaction
ENSG00000111790	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1123109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11568351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35623329	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190441600-190446400	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:190441800-190446000	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:190442200-190446400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:190442200-190446400	Active TSS	Aorta	Aorta
5	chr2:190442200-190446600	Active TSS	Right Atrium	heart
6	chr2:190442600-190445800	Active TSS	Fetal Intestine Small	intestine
7	chr2:190443200-190446000	Active TSS	Fetal Muscle Leg	muscle
8	chr2:190443200-190446200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:190443200-190446200	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:190443200-190446400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:190443200-190446600	Active TSS	Brain Anterior Caudate	brain
12	chr2:190443200-190446600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:190443400-190445400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr2:190443400-190445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:190443600-190446200	Active TSS	Fetal Intestine Large	intestine
16	chr2:190443600-190446400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:190443600-190446400	Active TSS	Ovary	ovary
18	chr2:190443800-190445600	ZNF genes & repeats	Fetal Brain Male	brain
19	chr2:190443800-190446000	Active TSS	Placenta	Placenta
20	chr2:190444000-190446400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:190444000-190446600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:190444200-190445400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr2:190444200-190445800	Active TSS	Brain Hippocampus Middle	brain
24	chr2:190444200-190446200	Active TSS	Brain Angular Gyrus	brain
25	chr2:190444200-190446200	Active TSS	Fetal Stomach	stomach
26	chr2:190444200-190446600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:190444400-190445400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:190444400-190446000	Active TSS	Liver	Liver
29	chr2:190444400-190446000	Active TSS	Fetal Brain Female	brain
30	chr2:190444400-190446200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr2:190444400-190446200	Active TSS	Colonic Mucosa	Colon
32	chr2:190444400-190446200	Active TSS	Fetal Muscle Trunk	muscle
33	chr2:190444400-190446200	Active TSS	Gastric	stomach
34	chr2:190444400-190446200	Active TSS	Left Ventricle	heart
35	chr2:190444400-190446200	Active TSS	Lung	lung
36	chr2:190444400-190446200	Active TSS	Pancreas	Pancrea
37	chr2:190444400-190446200	Active TSS	Right Ventricle	heart
38	chr2:190444400-190446200	Active TSS	Stomach Mucosa	stomach
39	chr2:190444400-190446400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr2:190444400-190446400	Active TSS	Brain Substantia Nigra	brain
41	chr2:190444400-190446600	Active TSS	Psoas Muscle	Psoas
42	chr2:190444400-190446800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr2:190444600-190445400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:190444600-190445400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:190444600-190445400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:190444600-190445400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr2:190444600-190446000	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr2:190444600-190446200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:190444600-190446200	Active TSS	Small Intestine	intestine
50	chr2:190444600-190446400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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