Variant report

Variant	rs1148369
Chromosome Location	chr3:150475420-150475421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150474487-150475871	HepG2	liver:	n/a	n/a
2	TEAD4	chr3:150475087-150475593	HepG2	liver:	n/a	n/a
3	HNF4A	chr3:150475223-150475433	HepG2	liver:	n/a	chr3:150475271-150475289 chr3:150475274-150475286 chr3:150475273-150475288 chr3:150475273-150475287 chr3:150475272-150475287 chr3:150475274-150475287 chr3:150475273-150475286 chr3:150475273-150475286
4	POLR2A	chr3:150475247-150476359	K562	blood:	n/a	n/a
5	JUND	chr3:150474105-150475433	T-47D	breast:	n/a	n/a
6	POLR2A	chr3:150473877-150476406	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:150473734-150476416	HepG2	liver:	n/a	n/a
8	GATA3	chr3:150475193-150475437	T-47D	breast:	n/a	n/a
9	ESR1	chr3:150474114-150475514	T-47D	breast:	n/a	chr3:150474428-150474445 chr3:150474429-150474446
10	POLR2A	chr3:150474288-150476059	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150127920..150130058-chr3:150474228..150477225,3	MCF-7	breast:
2	chr3:150447677..150449364-chr3:150475265..150477191,2	K562	blood:
3	chr3:150419618..150422904-chr3:150472967..150476084,3	MCF-7	breast:
4	chr3:150454844..150455441-chr3:150475372..150476161,2	MCF-7	breast:
5	chr3:150473033..150475794-chr3:150515641..150518392,2	K562	blood:
6	chr3:150454823..150455441-chr3:150475296..150476221,4	MCF-7	breast:
7	chr3:150319591..150322535-chr3:150472919..150477532,4	MCF-7	breast:
8	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
9	chr3:150454948..150455633-chr3:150475356..150476226,2	MCF-7	breast:

Variant related genes	Relation type
SIAH2-AS1	TF binding region
ENSG00000198843	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000240137	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6795266	0.83[MEX][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1148369	TMEM14E	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150453800-150478000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:150454600-150477200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:150456400-150477600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:150456600-150477600	Weak transcription	Fetal Brain Male	brain
5	chr3:150456800-150477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:150457000-150478800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:150457600-150477600	Weak transcription	HUVEC	blood vessel
8	chr3:150459000-150477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:150460200-150477600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:150460400-150477600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:150462800-150477000	Weak transcription	Brain Angular Gyrus	brain
12	chr3:150463000-150477800	Weak transcription	NH-A	brain
13	chr3:150463000-150478400	Weak transcription	HSMM	muscle
14	chr3:150463200-150475600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:150463200-150477600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:150464800-150477000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:150466200-150477600	Weak transcription	Aorta	Aorta
18	chr3:150466400-150477800	Weak transcription	Brain Substantia Nigra	brain
19	chr3:150466800-150477600	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:150467000-150477000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:150467000-150477600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr3:150467000-150477600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:150467200-150477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:150467400-150477200	Weak transcription	NHDF-Ad	bronchial
25	chr3:150467400-150477600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:150470000-150477000	Weak transcription	A549	lung
27	chr3:150470000-150477600	Weak transcription	Fetal Lung	lung
28	chr3:150470000-150477800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:150470000-150478800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:150470200-150475800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:150470200-150476200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:150470200-150477000	Weak transcription	HMEC	breast
33	chr3:150470200-150477400	Weak transcription	Primary T cells from cord blood	blood
34	chr3:150470200-150477600	Weak transcription	Brain Anterior Caudate	brain
35	chr3:150470200-150477800	Weak transcription	Right Ventricle	heart
36	chr3:150470400-150475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:150470600-150477000	Weak transcription	Primary B cells from cord blood	blood
38	chr3:150470600-150477800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:150471000-150477000	Weak transcription	Colonic Mucosa	Colon
40	chr3:150471200-150476000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr3:150471200-150477200	Weak transcription	Psoas Muscle	Psoas
42	chr3:150471200-150477200	Weak transcription	Spleen	Spleen
43	chr3:150471200-150477400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:150471200-150479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:150471400-150477200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:150471400-150477800	Weak transcription	HSMMtube	muscle
47	chr3:150471600-150477000	Weak transcription	Thymus	Thymus
48	chr3:150471600-150477600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr3:150471600-150477600	Weak transcription	Esophagus	oesophagus
50	chr3:150471600-150479600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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