Variant report

Variant	rs2278072
Chromosome Location	chr15:34144951-34144952
allele	C/T
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	TCF12	chr15:34144561-34145492	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr15:34144729-34145248	SK-N-SH	brain:	n/a	chr15:34144982-34144998
3	JUND	chr15:34144714-34145275	SK-N-SH	brain:	n/a	chr15:34145071-34145079 chr15:34144865-34144875 chr15:34145167-34145179 chr15:34145070-34145080 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874 chr15:34145071-34145078 chr15:34145071-34145079
4	PBX3	chr15:34144655-34145371	SK-N-SH	brain:	n/a	n/a
5	JUND	chr15:34144715-34145008	K562	blood:	n/a	chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874
6	FOSL2	chr15:34144591-34145401	SK-N-SH	brain:	n/a	chr15:34145071-34145079 chr15:34144865-34144875 chr15:34145167-34145179 chr15:34145070-34145080 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874 chr15:34145071-34145078 chr15:34145071-34145079
7	FOS	chr15:34144797-34145187	MCF10A-Er-Src	breast:	n/a	chr15:34145071-34145079 chr15:34144865-34144875 chr15:34145167-34145179 chr15:34145070-34145080 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874 chr15:34145071-34145078 chr15:34145071-34145079
8	NFIC	chr15:34144569-34145389	SK-N-SH	brain:	n/a	chr15:34144982-34144998
9	PBX3	chr15:34144665-34145410	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr15:34144512-34145710	SK-N-SH	brain:	n/a	chr15:34145611-34145622
11	POLR2A	chr15:34144693-34145245	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr15:34144735-34145018	K562	blood:	n/a	n/a
13	FOS	chr15:34144793-34145201	MCF10A-Er-Src	breast:	n/a	chr15:34145071-34145079 chr15:34144865-34144875 chr15:34145167-34145179 chr15:34145070-34145080 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874 chr15:34145071-34145078 chr15:34145071-34145079
14	CEBPB	chr15:34144887-34145256	IMR90	lung:	n/a	n/a
15	JUND	chr15:34144660-34145164	Hela-S3	cervix:	n/a	chr15:34145071-34145079 chr15:34144865-34144875 chr15:34145070-34145080 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874 chr15:34145071-34145078 chr15:34145071-34145079
16	GATA3	chr15:34144505-34145458	SK-N-SH	brain:	n/a	n/a
17	FOS	chr15:34144838-34145170	MCF10A-Er-Src	breast:	n/a	chr15:34145071-34145079 chr15:34144865-34144875 chr15:34145070-34145080 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874 chr15:34145071-34145078 chr15:34145071-34145079
18	JUND	chr15:34144692-34145071	H1-hESC	embryonic stem cell:	n/a	chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874
19	TCF12	chr15:34144617-34145504	SK-N-SH	brain:	n/a	n/a
20	FOS	chr15:34144848-34145213	MCF10A-Er-Src	breast:	n/a	chr15:34145071-34145079 chr15:34144865-34144875 chr15:34145167-34145179 chr15:34145070-34145080 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144875 chr15:34144865-34144874 chr15:34145071-34145078 chr15:34145071-34145079

Variant related genes	Relation type
RYR3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12439280	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12591066	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs12594520	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs17236651	0.82[EUR][1000 genomes]
rs2241648	0.80[CHB][hapmap]
rs2278314	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303868	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2303869	0.83[EUR][1000 genomes]
rs4780185	0.96[ASN][1000 genomes]
rs6495290	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7169684	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7174516	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs724443	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs891343	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv568921	chr15:34046635-34247622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34090600-34151800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:34091800-34151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:34114400-34149400	Weak transcription	Fetal Stomach	stomach
4	chr15:34121400-34158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:34124400-34146800	Weak transcription	Brain Substantia Nigra	brain
6	chr15:34124400-34148600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:34124400-34151200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:34127800-34147800	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:34129800-34151600	Weak transcription	Fetal Brain Female	brain
10	chr15:34130000-34151000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:34130800-34151200	Weak transcription	Aorta	Aorta
12	chr15:34130800-34158600	Weak transcription	Brain Germinal Matrix	brain
13	chr15:34131200-34146800	Weak transcription	Brain Anterior Caudate	brain
14	chr15:34132200-34146400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:34137400-34164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:34138000-34148200	Weak transcription	Spleen	Spleen
17	chr15:34138600-34146800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:34138600-34151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:34138800-34145000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr15:34139800-34156400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:34139800-34164200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:34141600-34149400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:34142200-34145600	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:34142400-34146600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:34142400-34168600	Weak transcription	Esophagus	oesophagus
26	chr15:34143000-34165000	Weak transcription	Psoas Muscle	Psoas
27	chr15:34143400-34145200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr15:34143400-34146000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:34143400-34160400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:34143600-34145200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr15:34143600-34145400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr15:34143600-34145400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr15:34143600-34164200	Weak transcription	Brain Angular Gyrus	brain
34	chr15:34143800-34145000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr15:34143800-34145200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:34143800-34145800	Enhancers	Osteobl	bone
37	chr15:34143800-34156200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:34144000-34145200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr15:34144200-34145400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:34144200-34145400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr15:34144200-34145400	Enhancers	A549	lung
42	chr15:34144200-34145800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:34144200-34145800	Enhancers	NH-A	brain
44	chr15:34144200-34146800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:34144400-34145800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:34144400-34146200	Enhancers	Hela-S3	cervix
47	chr15:34144400-34151000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:34144600-34145200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:34144600-34145200	Enhancers	Placenta	Placenta
50	chr15:34144600-34145600	Enhancers	HSMM	muscle

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