Variant report

Variant	rs9921552
Chromosome Location	chr16:71676527-71676528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71668579..71670328-chr16:71676094..71677931,2	MCF-7	breast:
2	chr16:71658239..71660520-chr16:71674184..71677101,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140832	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11075896	0.96[AFR][1000 genomes]
rs11075897	0.96[AFR][1000 genomes]
rs13331951	0.96[AFR][1000 genomes]
rs13333988	1.00[AFR][1000 genomes]
rs13334187	0.88[AFR][1000 genomes]
rs13334255	0.88[AFR][1000 genomes]
rs13334566	0.88[AFR][1000 genomes]
rs13337162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337224	0.88[AFR][1000 genomes]
rs13338265	0.96[AFR][1000 genomes]
rs13338868	1.00[AMR][1000 genomes]
rs13339574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28487278	0.82[AFR][1000 genomes]
rs28556848	0.96[AFR][1000 genomes]
rs28649987	0.96[AFR][1000 genomes]
rs28681277	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28712876	1.00[AFR][1000 genomes]
rs28744680	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28757746	0.82[AFR][1000 genomes]
rs34113755	0.83[AFR][1000 genomes]
rs55829421	0.91[AFR][1000 genomes]
rs55930830	0.83[AFR][1000 genomes]
rs56209933	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57187537	0.88[AFR][1000 genomes]
rs57827931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324033	0.88[AFR][1000 genomes]
rs60173154	0.91[AFR][1000 genomes]
rs61258964	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196013	0.90[AFR][1000 genomes]
rs7198645	0.88[AFR][1000 genomes]
rs73578257	0.96[AFR][1000 genomes]
rs73580232	0.88[AFR][1000 genomes]
rs73582208	0.88[AFR][1000 genomes]
rs8048170	1.00[AFR][1000 genomes]
rs8062948	0.97[AFR][1000 genomes]
rs9302626	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302628	0.96[AFR][1000 genomes]
rs9924829	0.88[AFR][1000 genomes]
rs9924862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925712	0.82[AFR][1000 genomes]
rs9926077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9927004	0.93[AFR][1000 genomes]
rs9928298	0.91[AFR][1000 genomes]
rs9928788	0.96[AFR][1000 genomes]
rs9930573	0.96[AFR][1000 genomes]
rs9930588	0.91[AFR][1000 genomes]
rs9934778	0.96[AFR][1000 genomes]
rs9935867	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2597921	chr16:71674837-71677996	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv2116823	chr16:71675480-71677643	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9921552	MARVELD3	cis	lymphoblastoid	seeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71661800-71682000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:71662600-71682000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:71663200-71676800	Weak transcription	Fetal Kidney	kidney
4	chr16:71663400-71678400	Weak transcription	Fetal Lung	lung
5	chr16:71663600-71686600	Weak transcription	Small Intestine	intestine
6	chr16:71663800-71680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:71663800-71681400	Weak transcription	Left Ventricle	heart
8	chr16:71663800-71681400	Weak transcription	HepG2	liver
9	chr16:71664600-71682800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:71665200-71682800	Weak transcription	HMEC	breast
11	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:71668200-71681800	Weak transcription	Spleen	Spleen
13	chr16:71668600-71678200	Weak transcription	Primary T cells from cord blood	blood
14	chr16:71669600-71681400	Weak transcription	Brain Angular Gyrus	brain
15	chr16:71669600-71681600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:71670000-71678000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:71670000-71678200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:71670000-71679200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:71670000-71682600	Weak transcription	Brain Substantia Nigra	brain
20	chr16:71670200-71682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:71670400-71681400	Weak transcription	Fetal Muscle Leg	muscle
22	chr16:71670600-71678400	Strong transcription	Fetal Intestine Small	intestine
23	chr16:71670800-71681800	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:71671200-71676800	Weak transcription	Right Atrium	heart
25	chr16:71671200-71683200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:71671400-71678400	Weak transcription	Dnd41	blood
27	chr16:71671600-71686400	Weak transcription	Fetal Heart	heart
28	chr16:71671800-71682200	Weak transcription	Right Ventricle	heart
29	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
30	chr16:71672000-71678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:71672000-71678400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:71672000-71679000	Weak transcription	HSMM	muscle
33	chr16:71672000-71681200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:71672000-71681400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:71672000-71681600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:71672000-71682600	Weak transcription	NHLF	lung
37	chr16:71672000-71682800	Weak transcription	NH-A	brain
38	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr16:71672200-71676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:71672200-71676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:71672200-71676800	Weak transcription	HSMMtube	muscle
42	chr16:71672200-71676800	Weak transcription	Osteobl	bone
43	chr16:71672200-71678200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:71672200-71678800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:71672200-71681200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:71672200-71681400	Weak transcription	NHDF-Ad	bronchial
47	chr16:71672200-71681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:71672200-71682600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:71672200-71682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:71672400-71676600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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