Variant report

Variant	rs9923154
Chromosome Location	chr16:71841008-71841009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71785226..71787228-chr16:71840508..71842662,2	K562	blood:
2	chr16:71829817..71832917-chr16:71838468..71842118,4	K562	blood:
3	chr16:71833932..71837191-chr16:71839975..71841834,3	K562	blood:
4	chr16:71838848..71841056-chr16:71860564..71862352,2	K562	blood:
5	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
6	chr16:71840992..71843295-chr16:72041440..72044182,2	K562	blood:
7	chr16:71840314..71841978-chr16:71961721..71963575,2	K562	blood:
8	chr16:71840719..71844104-chr16:72124883..72128411,3	K562	blood:
9	chr16:71840867..71844185-chr16:71927744..71931104,8	K562	blood:
10	chr16:71840441..71845295-chr16:71875076..71881716,14	K562	blood:
11	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000102967	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000140829	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000140830	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000261765	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11075896	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11075897	1.00[YRI][hapmap]
rs13334187	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap]
rs13334255	1.00[YRI][hapmap]
rs13334617	1.00[AMR][1000 genomes]
rs13335391	1.00[AMR][1000 genomes]
rs13337119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28436203	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs28450081	1.00[AMR][1000 genomes]
rs28450346	1.00[AMR][1000 genomes]
rs28711364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59358880	1.00[AMR][1000 genomes]
rs59880935	0.88[AFR][1000 genomes]
rs6499544	1.00[ASW][hapmap];0.94[MKK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs6499549	1.00[AMR][1000 genomes]
rs7186536	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191105	0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198387	1.00[AMR][1000 genomes]
rs7198645	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7202000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578375	1.00[AMR][1000 genomes]
rs73582271	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582274	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582278	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582282	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582529	1.00[AMR][1000 genomes]
rs73584107	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590035	1.00[AMR][1000 genomes]
rs73590051	1.00[AMR][1000 genomes]
rs74027713	1.00[AMR][1000 genomes]
rs8045275	1.00[AMR][1000 genomes]
rs8045394	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8048947	1.00[AMR][1000 genomes]
rs8051461	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs8059131	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9302626	0.89[YRI][hapmap]
rs9302628	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9673858	1.00[AMR][1000 genomes]
rs9921383	1.00[ASW][hapmap];0.94[MKK][hapmap];1.00[AMR][1000 genomes]
rs9923213	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925225	1.00[AMR][1000 genomes]
rs9928298	1.00[ASW][hapmap];0.87[LWK][hapmap];0.90[YRI][hapmap]
rs9928365	1.00[AMR][1000 genomes]
rs9930271	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9930588	1.00[YRI][hapmap]
rs9932715	1.00[AMR][1000 genomes]
rs9932742	1.00[AMR][1000 genomes]
rs9933862	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937049	1.00[AMR][1000 genomes]
rs9937974	1.00[AMR][1000 genomes]
rs9941356	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9923154	MARVELD3	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71823200-71841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:71823400-71841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:71823400-71841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:71823400-71841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr16:71823400-71841600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:71823400-71841600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr16:71823400-71841600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:71823400-71841600	Weak transcription	Aorta	Aorta
10	chr16:71823400-71841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:71823400-71841800	Weak transcription	Esophagus	oesophagus
12	chr16:71823400-71841800	Weak transcription	Pancreas	Pancrea
13	chr16:71827000-71841800	Weak transcription	Spleen	Spleen
14	chr16:71827400-71841200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr16:71830000-71841400	Weak transcription	Thymus	Thymus
16	chr16:71830800-71841200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:71831000-71841600	Weak transcription	Ovary	ovary
18	chr16:71832400-71841600	Weak transcription	Gastric	stomach
19	chr16:71833800-71841800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:71836000-71841200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:71837000-71841600	Weak transcription	Left Ventricle	heart
22	chr16:71838600-71841600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:71838800-71841800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:71839000-71841200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr16:71839600-71841200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr16:71839600-71841400	Enhancers	Brain Cingulate Gyrus	brain
27	chr16:71839600-71841400	Enhancers	Brain Hippocampus Middle	brain
28	chr16:71839600-71841600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr16:71839600-71841600	Enhancers	Small Intestine	intestine
30	chr16:71839800-71841200	Enhancers	Primary B cells from cord blood	blood
31	chr16:71839800-71841200	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr16:71839800-71841200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr16:71839800-71841200	Enhancers	Rectal Smooth Muscle	rectum
34	chr16:71839800-71841600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr16:71839800-71841800	Weak transcription	Lung	lung
36	chr16:71840000-71841200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:71840000-71841200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr16:71840000-71841200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:71840000-71841400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:71840000-71841400	Enhancers	Colon Smooth Muscle	Colon
41	chr16:71840000-71841600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:71840000-71841600	Enhancers	Primary T cells from cord blood	blood
43	chr16:71840000-71841600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:71840000-71841600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:71840200-71841200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr16:71840200-71841200	Genic enhancers	Liver	Liver
47	chr16:71840200-71841200	Genic enhancers	Fetal Brain Female	brain
48	chr16:71840200-71841400	Active TSS	NHLF	lung
49	chr16:71840400-71841200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:71840400-71841200	Enhancers	Primary neutrophils fromperipheralblood	blood

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