Variant report

Variant	rs730154
Chromosome Location	chr15:51591204-51591205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51590787..51593920-chr15:51596924..51599440,3	K562	blood:
2	chr15:51584655..51587117-chr15:51590888..51593772,2	MCF-7	breast:
3	chr15:51590945..51592676-chr15:51611664..51613221,2	MCF-7	breast:
4	chr15:51581805..51583576-chr15:51590790..51593107,2	MCF-7	breast:
5	chr15:51591182..51591700-chr15:51673143..51673644,2	MCF-7	breast:
6	chr15:51590364..51592681-chr15:51602169..51603954,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10519302	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs16964254	0.99[ASN][1000 genomes]
rs16964258	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs17647719	0.81[CHD][hapmap]
rs1902586	0.94[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs2008691	0.88[CEU][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap]
rs2305706	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2305707	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2445752	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470178	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28559787	0.98[ASN][1000 genomes]
rs28566535	0.99[ASN][1000 genomes]
rs28723025	0.98[ASN][1000 genomes]
rs28757131	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36066823	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4614671	0.94[CEU][hapmap]
rs8031463	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs936306	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs936308	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs936309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv904215	chr15:51542193-51673125	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs730154	TMOD2	cis	parietal	SCAN
rs730154	TNFAIP8L3	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51588200-51594800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:51590200-51592200	Enhancers	Fetal Stomach	stomach
3	chr15:51590200-51593000	Enhancers	Brain Cingulate Gyrus	brain
4	chr15:51590400-51591800	Weak transcription	Spleen	Spleen
5	chr15:51590800-51591800	Enhancers	Stomach Smooth Muscle	stomach
6	chr15:51590800-51592200	Enhancers	Fetal Muscle Leg	muscle
7	chr15:51590800-51592400	Enhancers	HSMMtube	muscle
8	chr15:51590800-51593000	Enhancers	Brain Hippocampus Middle	brain
9	chr15:51590800-51593400	Genic enhancers	Placenta	Placenta
10	chr15:51591000-51591400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:51591000-51591800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr15:51591000-51592400	Enhancers	Brain Anterior Caudate	brain
13	chr15:51591000-51592600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:51591000-51592800	Enhancers	Brain Angular Gyrus	brain
15	chr15:51591000-51593200	Enhancers	Brain Substantia Nigra	brain
16	chr15:51591000-51593400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr15:51591200-51591400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:51591200-51591400	Flanking Active TSS	HepG2	liver
19	chr15:51591200-51591600	Enhancers	Aorta	Aorta
20	chr15:51591200-51591600	Enhancers	Left Ventricle	heart
21	chr15:51591200-51591600	Enhancers	Right Atrium	heart
22	chr15:51591200-51591800	Enhancers	Fetal Muscle Trunk	muscle
23	chr15:51591200-51591800	Enhancers	Psoas Muscle	Psoas
24	chr15:51591200-51591800	Enhancers	HSMM	muscle
25	chr15:51591200-51592200	Enhancers	Pancreas	Pancrea

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