Variant report

Variant	rs2465076
Chromosome Location	chr7:137854311-137854312
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	chr7:137852078..137854915-chr7:138143824..138145867,3	MCF-7	breast:
2	chr7:137854218..137856013-chr7:137925326..137928137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1552583	0.81[JPT][hapmap]
rs2450848	0.86[JPT][hapmap]

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	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2465076	ASZ1	trans	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137849800-137855200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:137849800-137855200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:137849800-137856000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:137851000-137854600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:137851600-137855000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:137851600-137856400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:137851800-137856400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:137852000-137856400	Enhancers	HepG2	liver
9	chr7:137852200-137855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:137852200-137856400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:137852400-137855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:137852400-137857000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:137852600-137856400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:137853000-137855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:137853000-137856400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:137853200-137854800	Enhancers	Fetal Thymus	thymus
17	chr7:137853400-137855400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:137853600-137854600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:137853600-137854800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:137853600-137855000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:137853600-137855200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:137853800-137854400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:137853800-137854600	Enhancers	Thymus	Thymus
24	chr7:137853800-137854600	Enhancers	Dnd41	blood
25	chr7:137853800-137856200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:137854000-137854800	Enhancers	NH-A	brain
27	chr7:137854000-137855000	Enhancers	Primary T cells from cord blood	blood
28	chr7:137854000-137855200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:137854000-137855400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:137854000-137855600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:137854000-137855800	Enhancers	GM12878-XiMat	blood
32	chr7:137854000-137856400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:137854200-137854800	Enhancers	HUES64 Cell Line	embryonic stem cell

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