Variant report

Variant	rs10513380
Chromosome Location	chr3:150643373-150643374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150643242..150644023-chr3:150804529..150805108,2	MCF-7	breast:
2	chr3:150643340..150644103-chr3:150874146..150874967,2	MCF-7	breast:
3	chr3:150641035..150643742-chr3:150654754..150657787,3	MCF-7	breast:
4	chr3:150643163..150644188-chr3:150863256..150864452,7	MCF-7	breast:
5	chr3:150643249..150644365-chr3:150804193..150805096,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144893	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1456138	0.92[ASN][1000 genomes]
rs3796239	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4680058	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

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	nsv915879	chr3:150607390-150860207	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10513380	MBNL1	cis	cerebellum	SCAN
rs10513380	TMEM14E	cis	cerebellum	SCAN
rs10513380	TM4SF4	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150632200-150645200	Weak transcription	Right Atrium	heart
2	chr3:150636000-150643600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:150636200-150643400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:150640000-150643400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:150641600-150644000	Enhancers	Fetal Muscle Leg	muscle
6	chr3:150643000-150643400	Enhancers	Primary B cells from cord blood	blood
7	chr3:150643000-150643400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:150643000-150643600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:150643000-150643600	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:150643000-150643600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:150643000-150644000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:150643000-150644000	Enhancers	Fetal Thymus	thymus
13	chr3:150643000-150644200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr3:150643200-150643400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:150643200-150643400	Enhancers	GM12878-XiMat	blood
16	chr3:150643200-150643600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:150643200-150643800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:150643200-150643800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr3:150643200-150644000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:150643200-150644000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:150643200-150644000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:150643200-150644000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:150643200-150644000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:150643200-150644200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr3:150643200-150644200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:150643200-150644400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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