Variant report

Variant	rs7184995
Chromosome Location	chr16:69924833-69924834
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr16:69924029-69925135	H1-neurons	neurons:	n/a	n/a
2	TCF12	chr16:69924633-69925295	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr16:69924286-69924902	H1-neurons	neurons:	n/a	n/a
4	KAP1	chr16:69924379-69924975	HEK293	kidney:	n/a	n/a
5	SPI1	chr16:69924479-69924896	HL-60	blood:	n/a	chr16:69924648-69924661 chr16:69924650-69924659 chr16:69924649-69924662 chr16:69924649-69924662
6	REST	chr16:69924402-69924899	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr16:69924337-69924927	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr16:69924323-69924897	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
WWP2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10517	0.83[JPT][hapmap]
rs10852459	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1112183	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16959059	0.83[JPT][hapmap]
rs2937125	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2965757	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2965758	0.83[JPT][hapmap]
rs4985547	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7359387	0.83[JPT][hapmap]
rs8056707	0.85[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
2	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
5	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
6	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:69913600-69950400	Weak transcription	A549	lung
9	chr16:69916400-69931600	Strong transcription	Primary B cells from cord blood	blood
10	chr16:69916400-69931600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:69917200-69930600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:69919800-69932400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr16:69920600-69928000	Strong transcription	Primary T cells from cord blood	blood
14	chr16:69921400-69938800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:69921600-69925000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:69921600-69925800	Strong transcription	HepG2	liver
17	chr16:69921600-69932800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr16:69921800-69925000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:69921800-69925800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr16:69921800-69925800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:69921800-69926000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:69921800-69926000	Strong transcription	Thymus	Thymus
23	chr16:69921800-69926400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr16:69921800-69926600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:69922000-69925800	Enhancers	Brain Cingulate Gyrus	brain
26	chr16:69922000-69926000	Enhancers	Brain Substantia Nigra	brain
27	chr16:69922600-69925000	Strong transcription	Fetal Thymus	thymus
28	chr16:69923200-69938600	Weak transcription	Ovary	ovary
29	chr16:69923400-69925800	Enhancers	Brain Angular Gyrus	brain
30	chr16:69923400-69925800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:69923400-69925800	Genic enhancers	Rectal Mucosa Donor 31	rectum
32	chr16:69923400-69926000	Enhancers	Brain Hippocampus Middle	brain
33	chr16:69923600-69925000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr16:69923600-69925000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr16:69923600-69925400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr16:69923600-69925800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:69923600-69926000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:69923600-69926000	Enhancers	Brain Anterior Caudate	brain
39	chr16:69923600-69928600	Weak transcription	Liver	Liver
40	chr16:69923600-69942600	Weak transcription	Pancreas	Pancrea
41	chr16:69923600-69944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr16:69923800-69925000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:69923800-69925800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr16:69923800-69926000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:69923800-69926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:69923800-69927800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:69923800-69929000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:69923800-69929800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:69923800-69931400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr16:69923800-69936000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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