Variant report

Variant	rs12549239
Chromosome Location	chr8:91069944-91069945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91012551..91014325-chr8:91069932..91072701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10216997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10755931	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13267372	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805867	0.85[CHB][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2141408	0.88[JPT][hapmap]
rs2284134	0.88[JPT][hapmap]
rs2697667	0.81[JPT][hapmap]
rs2697671	0.88[JPT][hapmap]
rs2697677	0.87[JPT][hapmap]
rs6470736	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297789	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12549239	DECR1	cis	cerebellum	SCAN
rs12549239	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91055600-91074600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:91057800-91093600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:91058000-91071400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:91058000-91085800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:91058200-91080200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:91058600-91070200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:91058600-91070400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:91058600-91070400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:91058600-91070800	Weak transcription	HSMMtube	muscle
10	chr8:91058600-91078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:91059000-91071000	Weak transcription	Primary T cells from cord blood	blood
12	chr8:91059000-91074400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:91059000-91084800	Weak transcription	Brain Anterior Caudate	brain
14	chr8:91061400-91071000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:91065600-91070000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:91065600-91070200	Weak transcription	Fetal Brain Male	brain
17	chr8:91065600-91070400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:91065600-91070800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:91065800-91070000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:91065800-91070000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:91065800-91070000	Weak transcription	Fetal Thymus	thymus
22	chr8:91065800-91070200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:91065800-91070400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:91065800-91070400	Weak transcription	Fetal Intestine Large	intestine
25	chr8:91065800-91070400	Weak transcription	Thymus	Thymus
26	chr8:91065800-91072800	Weak transcription	Left Ventricle	heart
27	chr8:91066200-91083800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:91066400-91071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:91067000-91070200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:91068000-91072200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:91068000-91093200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:91068200-91071400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:91068400-91070800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:91068400-91070800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:91068400-91072800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:91068600-91071800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:91068800-91071200	Weak transcription	Primary B cells from cord blood	blood
38	chr8:91068800-91071800	Weak transcription	Adipose Nuclei	Adipose
39	chr8:91068800-91074400	Weak transcription	HSMM	muscle
40	chr8:91069000-91071800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:91069600-91074400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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