Variant report

Variant	rs1918352
Chromosome Location	chr7:99763439-99763440
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99754403..99756202-chr7:99762627..99764486,3	K562	blood:
2	chr7:99759440..99762424-chr7:99762477..99764332,2	K562	blood:
3	chr7:99720651..99722811-chr7:99761432..99764330,2	K562	blood:
4	chr7:99754473..99757305-chr7:99763282..99766035,2	MCF-7	breast:
5	chr7:99750795..99756202-chr7:99762627..99766634,7	K562	blood:
6	chr7:99752857..99757651-chr7:99763240..99770051,14	MCF-7	breast:
7	chr7:99760958..99763450-chr7:99810400..99812602,2	K562	blood:
8	chr7:99762393..99763903-chr7:99796471..99799217,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066923	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000266154	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10231604	0.83[EUR][1000 genomes]
rs11764584	0.83[EUR][1000 genomes]
rs11771167	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2272337	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2405440	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35042434	0.83[EUR][1000 genomes]
rs3736590	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3779047	0.83[EUR][1000 genomes]
rs3800951	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3823646	0.83[EUR][1000 genomes]
rs7785392	0.83[EUR][1000 genomes]
rs7787294	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7787492	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
3	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
5	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv888773	chr7:99751594-99772298	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv971181	chr7:99757433-99769748	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1918352	AP4M1	cis	Artery Tibial	GTEx
rs1918352	TAF6	Cis_1M	lymphoblastoid	RTeQTL
rs1918352	AP4M1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99756600-99764200	Weak transcription	Spleen	Spleen
2	chr7:99756800-99764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:99756800-99765200	Weak transcription	Right Atrium	heart
4	chr7:99756800-99765400	Weak transcription	Pancreas	Pancrea
5	chr7:99757000-99763800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:99757000-99763800	Weak transcription	Fetal Brain Female	brain
7	chr7:99757000-99764000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:99757000-99764000	Weak transcription	Fetal Lung	lung
9	chr7:99757000-99764600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:99757000-99764600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:99757000-99765000	Weak transcription	HSMM	muscle
12	chr7:99757000-99765400	Weak transcription	HSMMtube	muscle
13	chr7:99757200-99764000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:99757200-99764800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:99759600-99763600	Genic enhancers	Fetal Thymus	thymus
16	chr7:99761000-99764000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:99761000-99764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:99761000-99764800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:99761000-99764800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:99761400-99764000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:99761400-99764800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:99761400-99765400	Weak transcription	HMEC	breast
23	chr7:99761400-99766000	Weak transcription	Hela-S3	cervix
24	chr7:99761600-99763600	Enhancers	Primary T cells from cord blood	blood
25	chr7:99761600-99763800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:99761600-99764000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:99761600-99764000	Weak transcription	GM12878-XiMat	blood
28	chr7:99761800-99764000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:99761800-99764000	Weak transcription	Fetal Stomach	stomach
30	chr7:99761800-99764000	Weak transcription	K562	blood
31	chr7:99762000-99763600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:99762000-99763800	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:99762000-99764000	Weak transcription	Esophagus	oesophagus
34	chr7:99762000-99764200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:99762200-99763800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:99762800-99763800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:99762800-99763800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:99762800-99763800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr7:99762800-99764000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:99762800-99764200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr7:99763000-99763800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr7:99763000-99764000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:99763000-99764600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr7:99763200-99763600	Weak transcription	Thymus	Thymus
45	chr7:99763200-99764200	Enhancers	Placenta	Placenta
46	chr7:99763400-99763800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:99763400-99764000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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