Variant report

Variant	rs73509774
Chromosome Location	chr16:11943312-11943313
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr16:11943125-11943340	K562	blood:	n/a	n/a
2	POLR2A	chr16:11943312-11943338	MCF10A-Er-Src	breast:	n/a	n/a
3	RCOR1	chr16:11942079-11943552	IMR90	lung:	n/a	n/a
4	POLR2A	chr16:11942297-11943384	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:11942266-11943376	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:11941956-11943473	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:11922826..11925817-chr16:11942952..11944590,2	MCF-7	breast:
2	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
3	chr16:11922509..11925081-chr16:11942890..11945014,2	MCF-7	breast:
4	chr16:11889713..11895021-chr16:11941964..11945200,5	K562	blood:
5	chr16:11942158..11945019-chr16:12007276..12009748,2	K562	blood:
6	chr16:11936442..11940721-chr16:11941344..11946764,13	K562	blood:
7	chr16:11834805..11837629-chr16:11940990..11944217,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263307	TF binding region
RSL1D1	TF binding region
ENSG00000262420	Chromatin interaction
ENSG00000266163	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000262117	Chromatin interaction
ENSG00000153066	Chromatin interaction
ENSG00000122299	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13338411	0.84[EUR][1000 genomes]
rs16958698	0.88[AFR][1000 genomes]
rs16958700	0.83[EUR][1000 genomes]
rs373496	0.83[EUR][1000 genomes]
rs3885011	0.83[EUR][1000 genomes]
rs4780403	1.00[EUR][1000 genomes]
rs4780406	0.83[EUR][1000 genomes]
rs4781160	0.83[EUR][1000 genomes]
rs57934416	1.00[EUR][1000 genomes]
rs58472329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60578760	0.88[AFR][1000 genomes]
rs7193780	0.83[EUR][1000 genomes]
rs73509738	1.00[EUR][1000 genomes]
rs73509783	0.95[AFR][1000 genomes]
rs74010441	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482288	chr16:11776491-11946429	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11918600-11943800	Weak transcription	Right Atrium	heart
2	chr16:11929200-11944000	Strong transcription	Fetal Stomach	stomach
3	chr16:11929400-11943400	Strong transcription	Brain Germinal Matrix	brain
4	chr16:11929400-11943600	Strong transcription	Primary B cells from peripheral blood	blood
5	chr16:11929400-11943800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:11929600-11944000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:11929800-11943400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:11929800-11943400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr16:11930000-11943400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:11930000-11943400	Strong transcription	Brain Angular Gyrus	brain
11	chr16:11930000-11943400	Strong transcription	Fetal Intestine Large	intestine
12	chr16:11930000-11943600	Strong transcription	Fetal Muscle Leg	muscle
13	chr16:11930000-11943800	Strong transcription	Liver	Liver
14	chr16:11930000-11944000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:11930000-11944000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr16:11930200-11943400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:11930200-11943400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr16:11930200-11943400	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr16:11930200-11943600	Strong transcription	Fetal Lung	lung
20	chr16:11930200-11943600	Strong transcription	Placenta	Placenta
21	chr16:11930200-11943800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:11930200-11943800	Strong transcription	Fetal Thymus	thymus
23	chr16:11930400-11943400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr16:11930800-11944000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:11931000-11943400	Strong transcription	HSMMtube	muscle
26	chr16:11931000-11943800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr16:11931000-11943800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:11931000-11944200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:11931200-11943600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:11931200-11943600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:11931200-11943800	Strong transcription	HUVEC	blood vessel
32	chr16:11932000-11944000	Strong transcription	NH-A	brain
33	chr16:11937200-11943600	Strong transcription	Fetal Kidney	kidney
34	chr16:11938800-11943400	Strong transcription	Adipose Nuclei	Adipose
35	chr16:11939000-11944000	Weak transcription	Fetal Brain Male	brain
36	chr16:11940800-11944200	Weak transcription	Stomach Mucosa	stomach
37	chr16:11941000-11944000	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:11941200-11944000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr16:11941400-11943800	Weak transcription	Ovary	ovary
40	chr16:11941400-11943800	Weak transcription	Small Intestine	intestine
41	chr16:11941600-11943800	Genic enhancers	Hela-S3	cervix
42	chr16:11941800-11943400	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr16:11941800-11943800	Genic enhancers	Dnd41	blood
44	chr16:11941800-11944000	Weak transcription	Fetal Heart	heart
45	chr16:11941800-11944200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr16:11942000-11943600	Genic enhancers	Primary T cells from cord blood	blood
47	chr16:11942400-11943400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:11942400-11943400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
49	chr16:11942400-11943400	Genic enhancers	HMEC	breast
50	chr16:11942400-11943600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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