Variant report

Variant	rs1953613
Chromosome Location	chr6:69677917-69677918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69668152..69668716-chr6:69677675..69678207,2	MCF-7	breast:
2	chr6:69656160..69659095-chr6:69677328..69679855,2	K562	blood:
3	chr6:69671912..69674615-chr6:69676195..69678865,4	K562	blood:
4	chr6:69676667..69679065-chr6:69686722..69689222,2	K562	blood:
5	chr6:69676667..69679537-chr6:69686722..69688400,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1336650	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs2880588	0.80[EUR][1000 genomes]
rs3798969	0.84[CEU][hapmap]
rs9446079	0.80[EUR][1000 genomes]
rs9454661	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs945528	0.84[CEU][hapmap]

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	nsv5338	chr6:69670701-69701360	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1953613	PACSIN2	trans	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69645600-69679000	Weak transcription	Fetal Brain Female	brain
2	chr6:69646000-69685000	Weak transcription	Fetal Lung	lung
3	chr6:69652200-69684600	Weak transcription	Brain Angular Gyrus	brain
4	chr6:69670200-69685000	Weak transcription	Brain Germinal Matrix	brain
5	chr6:69673200-69680600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:69675800-69681600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:69676800-69678200	Flanking Active TSS	K562	blood
8	chr6:69676800-69678400	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:69677200-69678200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:69677400-69678000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:69677400-69678000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:69677400-69678200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:69677600-69678000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:69677600-69678000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:69677600-69678000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:69677600-69678000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:69677600-69678000	Enhancers	Brain Hippocampus Middle	brain
18	chr6:69677600-69678000	Enhancers	Brain Substantia Nigra	brain
19	chr6:69677600-69678000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:69677600-69678200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:69677600-69678600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:69677800-69678000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:69677800-69678200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:69677800-69678200	Enhancers	Brain Anterior Caudate	brain
25	chr6:69677800-69678400	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:69677800-69678400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:69677800-69678400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:69677800-69678400	Enhancers	Osteobl	bone
29	chr6:69677800-69678600	Enhancers	HUES48 Cell Line	embryonic stem cell

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