Variant report

Variant	rs9921383
Chromosome Location	chr16:71893023-71893024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71890852..71893516-chr16:71913818..71916856,4	K562	blood:
2	chr16:71890250..71892285-chr16:71892379..71894151,2	MCF-7	breast:
3	chr16:71892735..71894554-chr16:71896210..71898034,2	K562	blood:
4	chr16:71890922..71893196-chr16:71914291..71916326,2	K562	blood:
5	chr16:71879509..71881440-chr16:71892931..71895761,2	MCF-7	breast:
6	chr16:71878173..71880285-chr16:71891933..71895424,3	K562	blood:
7	chr16:71886073..71892139-chr16:71892415..71896075,7	K562	blood:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000261765	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11075896	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs13334187	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs13334617	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337119	1.00[AMR][1000 genomes]
rs28431030	0.93[AFR][1000 genomes]
rs28436203	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs28450081	1.00[AMR][1000 genomes]
rs28450346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523974	0.85[AFR][1000 genomes]
rs28711364	1.00[AMR][1000 genomes]
rs59358880	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499544	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499549	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186536	1.00[AMR][1000 genomes]
rs7191105	1.00[AMR][1000 genomes]
rs7198387	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs7202000	1.00[AMR][1000 genomes]
rs73578375	1.00[AMR][1000 genomes]
rs73582271	1.00[AMR][1000 genomes]
rs73582274	1.00[AMR][1000 genomes]
rs73582278	1.00[AMR][1000 genomes]
rs73582282	1.00[AMR][1000 genomes]
rs73582529	1.00[AMR][1000 genomes]
rs73584107	1.00[AMR][1000 genomes]
rs73590035	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590039	0.83[AFR][1000 genomes]
rs73590051	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027713	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045394	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs8048947	1.00[AMR][1000 genomes]
rs8051461	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059131	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs9302628	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs9673858	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923154	1.00[ASW][hapmap];0.94[MKK][hapmap];1.00[AMR][1000 genomes]
rs9923213	1.00[AMR][1000 genomes]
rs9925225	1.00[AMR][1000 genomes]
rs9928298	1.00[ASW][hapmap]
rs9928365	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs9932715	1.00[AMR][1000 genomes]
rs9932742	0.95[LWK][hapmap];1.00[AMR][1000 genomes]
rs9933862	1.00[AMR][1000 genomes]
rs9937049	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941356	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
rs9921383	MARVELD3	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
3	chr16:71881800-71895800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:71881800-71897000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:71881800-71899000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:71881800-71902000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
11	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71882400-71902400	Strong transcription	Fetal Stomach	stomach
13	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:71883600-71897000	Weak transcription	Hela-S3	cervix
15	chr16:71884600-71902000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:71885000-71893800	Weak transcription	NH-A	brain
17	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
18	chr16:71885400-71893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr16:71885600-71898000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
21	chr16:71886000-71893400	Weak transcription	Colonic Mucosa	Colon
22	chr16:71886000-71893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:71886000-71898400	Weak transcription	HMEC	breast
24	chr16:71886400-71893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:71886400-71904200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
27	chr16:71886600-71894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr16:71887200-71893200	Weak transcription	Esophagus	oesophagus
29	chr16:71887400-71893400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:71887600-71896800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr16:71888000-71893600	Weak transcription	Pancreas	Pancrea
32	chr16:71888000-71893800	Weak transcription	Aorta	Aorta
33	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
34	chr16:71888000-71916400	Weak transcription	NHEK	skin
35	chr16:71888200-71893600	Weak transcription	NHLF	lung
36	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr16:71888400-71893600	Weak transcription	Spleen	Spleen
38	chr16:71888400-71903000	Weak transcription	K562	blood
39	chr16:71888600-71903800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:71888800-71896600	Strong transcription	Primary B cells from cord blood	blood
41	chr16:71889200-71904000	Strong transcription	Primary T cells from cord blood	blood
42	chr16:71889400-71893200	Weak transcription	Brain Angular Gyrus	brain
43	chr16:71889600-71900200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:71889800-71896000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:71890000-71893600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:71890000-71899200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:71890200-71913000	Weak transcription	Osteobl	bone
48	chr16:71890400-71893200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr16:71890400-71893200	Weak transcription	Lung	lung
50	chr16:71890400-71893400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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