Variant report

Variant	rs9922131
Chromosome Location	chr16:83143445-83143446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10153218	1.00[JPT][hapmap]
rs13332819	1.00[JPT][hapmap]
rs13333884	1.00[JPT][hapmap]
rs13333926	1.00[JPT][hapmap]
rs13337231	1.00[JPT][hapmap]
rs17194176	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17194204	1.00[JPT][hapmap]
rs17194225	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs17194386	1.00[JPT][hapmap]
rs17194449	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs17194777	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17279307	1.00[JPT][hapmap]
rs17279341	1.00[JPT][hapmap]
rs17279383	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs17279551	1.00[JPT][hapmap]
rs6565124	1.00[JPT][hapmap]
rs6565125	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6565126	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7187117	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7188901	0.91[TSI][hapmap]
rs7192647	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs8047176	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8060436	1.00[JPT][hapmap]
rs9922134	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs9930263	1.00[JPT][hapmap]
rs9932351	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs9933033	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv573386	chr16:83091463-83170417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv457582	chr16:83103233-83148925	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv573387	chr16:83103233-83148925	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1060245	chr16:83105024-83146684	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv833306	chr16:83113899-83298775	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv869185	chr16:83125002-83342105	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv907032	chr16:83130260-83152148	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv907033	chr16:83130260-83162678	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv457583	chr16:83134457-83155723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv573388	chr16:83134457-83155723	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv1062989	chr16:83138449-83271119	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv2760442	chr16:83141106-83145350	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9922131	MLYCD	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83129800-83145000	Weak transcription	Psoas Muscle	Psoas
2	chr16:83133600-83149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:83134600-83151800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:83136000-83147000	Weak transcription	Aorta	Aorta
5	chr16:83136200-83147200	Weak transcription	Left Ventricle	heart
6	chr16:83136400-83157600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:83138000-83154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:83139600-83150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:83140000-83143800	Weak transcription	HSMM	muscle
10	chr16:83140000-83153000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:83140000-83158400	Weak transcription	HMEC	breast
12	chr16:83140200-83158400	Weak transcription	NHEK	skin
13	chr16:83142200-83149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:83142400-83153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:83143200-83143600	Flanking Active TSS	NHDF-Ad	bronchial
16	chr16:83143200-83144200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:83143200-83144400	Enhancers	HSMMtube	muscle
18	chr16:83143400-83143600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:83143400-83144200	Active TSS	Osteobl	bone

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