Variant report

Variant	rs858503
Chromosome Location	chr7:99845866-99845867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99844918..99846658-chr7:99861769..99864301,2	K562	blood:
2	chr7:99754140..99756334-chr7:99844492..99846727,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146826	Chromatin interaction
ENSG00000266154	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11489584	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12113906	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62482167	0.86[ASN][1000 genomes]
rs62482175	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	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
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv981558	chr7:99836239-99870051	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs858503	AP4M1	cis	Artery Tibial	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
2	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
3	chr7:99813800-99846800	Weak transcription	Ovary	ovary
4	chr7:99821600-99867800	Weak transcription	Gastric	stomach
5	chr7:99823200-99862600	Weak transcription	Spleen	Spleen
6	chr7:99823800-99864200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:99829200-99860600	Weak transcription	Dnd41	blood
8	chr7:99831400-99864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:99831600-99846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:99831800-99853000	Weak transcription	Fetal Brain Female	brain
11	chr7:99832200-99846000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:99833000-99868600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:99833200-99868600	Weak transcription	Thymus	Thymus
14	chr7:99840000-99846000	Weak transcription	Brain Germinal Matrix	brain
15	chr7:99840200-99863600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:99841200-99846400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:99841400-99847000	Enhancers	Fetal Muscle Leg	muscle
18	chr7:99841400-99864000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:99841600-99846000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:99842000-99868400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:99842600-99846400	Enhancers	Placenta	Placenta
22	chr7:99842800-99846400	Enhancers	Fetal Muscle Trunk	muscle
23	chr7:99842800-99858200	Weak transcription	Brain Substantia Nigra	brain
24	chr7:99843200-99846400	Enhancers	HepG2	liver
25	chr7:99843400-99846000	Weak transcription	Psoas Muscle	Psoas
26	chr7:99843800-99846400	Enhancers	K562	blood
27	chr7:99844000-99846200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:99844000-99846400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:99844000-99846400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:99844000-99847200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:99844400-99846600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:99844600-99846200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:99844800-99846000	Enhancers	NHEK	skin
34	chr7:99844800-99846200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:99844800-99846200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:99844800-99846200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:99844800-99846200	Enhancers	HMEC	breast
38	chr7:99844800-99846400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:99844800-99846400	Enhancers	Brain Hippocampus Middle	brain
40	chr7:99844800-99846400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:99844800-99846600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:99845000-99846000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:99845000-99846000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr7:99845000-99846400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:99845200-99846000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:99845200-99868200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:99845400-99846200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:99845400-99846200	Weak transcription	Brain Angular Gyrus	brain
49	chr7:99845400-99846200	Weak transcription	Stomach Mucosa	stomach
50	chr7:99845400-99853800	Weak transcription	Fetal Stomach	stomach

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