Variant report

Variant	rs10518973
Chromosome Location	chr15:58651580-58651581
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58647497..58650190-chr15:58651237..58653668,2	MCF-7	breast:
2	chr15:58647611..58649927-chr15:58650284..58652230,2	K562	blood:
3	chr15:58649963..58652081-chr15:58653053..58654968,2	K562	blood:
4	chr15:58612654..58614293-chr15:58650155..58652635,2	K562	blood:
5	chr15:58629848..58632165-chr15:58650024..58652398,2	K562	blood:
6	chr15:58635844..58637579-chr15:58649793..58652306,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11854016	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11855842	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12148283	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12324273	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12324543	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16940116	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115907	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28842782	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4775032	0.82[TSI][hapmap]
rs62001698	0.82[EUR][1000 genomes]
rs62001709	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62001710	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62001712	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62001731	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62001732	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68077377	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs8042092	0.80[AMR][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	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1041779	chr15:58634768-58662280	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10518973	MYO5C	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58640800-58652800	Weak transcription	Fetal Kidney	kidney
2	chr15:58642600-58655800	Weak transcription	Right Atrium	heart
3	chr15:58646000-58652000	Enhancers	Fetal Thymus	thymus
4	chr15:58648200-58653200	Weak transcription	HSMMtube	muscle
5	chr15:58648200-58653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:58648800-58651600	Enhancers	Primary T cells from cord blood	blood
7	chr15:58649600-58656000	Enhancers	Placenta	Placenta
8	chr15:58650200-58652400	Weak transcription	Hela-S3	cervix
9	chr15:58650200-58653400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:58650400-58652000	Weak transcription	K562	blood
11	chr15:58650400-58652800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:58650400-58653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:58650800-58652200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:58650800-58654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:58650800-58654400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:58651000-58655000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:58651000-58655400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:58651200-58651600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:58651200-58651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr15:58651200-58651800	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr15:58651200-58654400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:58651200-58654600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr15:58651200-58654600	Weak transcription	GM12878-XiMat	blood
24	chr15:58651200-58654800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:58651200-58655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:58651400-58654400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr15:58651400-58654800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr15:58651400-58654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:58651400-58654800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:58651400-58654800	Weak transcription	Thymus	Thymus

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