Variant report

Variant	rs2014889
Chromosome Location	chr2:10467171-10467172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10466793..10468983-chr2:10471445..10473009,2	K562	blood:
2	chr2:10441817..10444284-chr2:10465336..10468013,2	MCF-7	breast:
3	chr2:10467079..10470079-chr2:10485960..10489142,3	K562	blood:
4	chr2:10465569..10467563-chr2:10493687..10496492,2	MCF-7	breast:
5	chr2:10427703..10429703-chr2:10465002..10467932,2	MCF-7	breast:
6	chr2:10464962..10467287-chr2:10544928..10546718,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12692401	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1861231	0.97[EUR][1000 genomes]
rs1861232	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4081663	0.87[EUR][1000 genomes]
rs6732968	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs741262	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2014889	NTSR2	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10453200-10469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:10457600-10470600	Weak transcription	HMEC	breast
3	chr2:10461600-10470600	Weak transcription	NHEK	skin
4	chr2:10463200-10468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:10463200-10471400	Enhancers	Liver	Liver
6	chr2:10463400-10469600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:10463400-10470800	Enhancers	Brain Germinal Matrix	brain
8	chr2:10463400-10473600	Enhancers	Lung	lung
9	chr2:10463600-10469400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:10463800-10467600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:10463800-10469400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:10463800-10469800	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:10463800-10470400	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:10464200-10468000	Enhancers	Fetal Lung	lung
15	chr2:10464200-10468800	Enhancers	Pancreas	Pancrea
16	chr2:10464200-10469600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:10464200-10473600	Enhancers	Fetal Intestine Large	intestine
18	chr2:10464400-10467200	Enhancers	Small Intestine	intestine
19	chr2:10464400-10467600	Enhancers	Spleen	Spleen
20	chr2:10464400-10469800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:10464400-10470000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:10464600-10468600	Enhancers	Fetal Brain Male	brain
23	chr2:10464800-10467200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:10464800-10467800	Weak transcription	Hela-S3	cervix
25	chr2:10464800-10469400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:10464800-10469600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:10464800-10469600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:10464800-10469600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:10464800-10469800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:10465000-10467400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:10465000-10467800	Weak transcription	HUVEC	blood vessel
32	chr2:10465000-10469600	Weak transcription	NH-A	brain
33	chr2:10465200-10467200	Enhancers	Fetal Thymus	thymus
34	chr2:10465200-10467600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:10465400-10467200	Enhancers	Adipose Nuclei	Adipose
36	chr2:10465400-10467400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:10465400-10467400	Enhancers	Placenta	Placenta
38	chr2:10465400-10467600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:10465400-10467600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:10465400-10467800	Flanking Active TSS	HepG2	liver
41	chr2:10465400-10468600	Enhancers	Primary T cells from cord blood	blood
42	chr2:10465400-10469600	Weak transcription	GM12878-XiMat	blood
43	chr2:10465400-10469800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:10465400-10470600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:10465600-10467200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:10465600-10467400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:10465600-10468200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:10465600-10468800	Enhancers	Gastric	stomach
49	chr2:10465600-10469400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:10465600-10470400	Enhancers	Rectal Mucosa Donor 31	rectum

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