Variant report

Variant	rs13023336
Chromosome Location	chr2:10444031-10444032
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
2	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
3	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
4	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
5	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
6	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
7	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000206898	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10198443	1.00[JPT][hapmap]

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	esv3356298	chr2:10441526-10444374	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv3367929	chr2:10441951-10444149	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13023336	NTSR2	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10441600-10444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:10441800-10445600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:10442200-10444200	Active TSS	Psoas Muscle	Psoas
4	chr2:10442200-10444400	Active TSS	Brain Substantia Nigra	brain
5	chr2:10442200-10445000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:10442200-10445000	Active TSS	Osteobl	bone
7	chr2:10442200-10446000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:10442200-10446000	Active TSS	HSMMtube	muscle
9	chr2:10442400-10444200	Active TSS	Thymus	Thymus
10	chr2:10442400-10444400	Active TSS	Colon Smooth Muscle	Colon
11	chr2:10442400-10444400	Active TSS	Esophagus	oesophagus
12	chr2:10442400-10444400	Active TSS	Ovary	ovary
13	chr2:10442400-10444400	Active TSS	A549	lung
14	chr2:10442400-10444600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:10442400-10444600	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr2:10442400-10444600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr2:10442400-10444600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:10442400-10444600	Active TSS	Aorta	Aorta
19	chr2:10442400-10444600	Active TSS	Duodenum Mucosa	Duodenum
20	chr2:10442400-10444600	Active TSS	Fetal Lung	lung
21	chr2:10442400-10444600	Active TSS	Small Intestine	intestine
22	chr2:10442400-10444600	Active TSS	Hela-S3	cervix
23	chr2:10442400-10444600	Active TSS	HSMM	muscle
24	chr2:10442400-10445000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:10442400-10445200	Active TSS	Left Ventricle	heart
26	chr2:10442400-10445600	Active TSS	Right Atrium	heart
27	chr2:10442600-10444200	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:10442600-10444200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:10442600-10444400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:10442600-10444400	Active TSS	Primary T cells fromperipheralblood	blood
31	chr2:10442600-10444400	Active TSS	NHEK	skin
32	chr2:10442600-10444600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:10442600-10444600	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:10442600-10444800	Active TSS	Fetal Intestine Small	intestine
35	chr2:10442600-10445000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr2:10442800-10444400	Active TSS	HMEC	breast
37	chr2:10442800-10444800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:10443000-10444400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:10443000-10444400	Active TSS	Primary T cells from cord blood	blood
40	chr2:10443000-10444400	Active TSS	Gastric	stomach
41	chr2:10443000-10444600	Active TSS	Lung	lung
42	chr2:10443000-10444600	Active TSS	NHDF-Ad	bronchial
43	chr2:10443000-10445000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:10443000-10445000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr2:10443200-10444400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr2:10443200-10444800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:10443200-10444800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:10443200-10444800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr2:10443200-10444800	Active TSS	Fetal Kidney	kidney
50	chr2:10443200-10444800	Active TSS	Stomach Mucosa	stomach

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