Variant report

Variant	rs9964794
Chromosome Location	chr18:12949294-12949295
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12881395..12884200-chr18:12946697..12949759,6	MCF-7	breast:
2	chr18:12948345..12951130-chr18:12969418..12973863,3	K562	blood:
3	chr18:12726304..12729223-chr18:12948825..12951791,2	K562	blood:
4	chr18:12700182..12704223-chr18:12944670..12949511,9	K562	blood:
5	chr18:12373949..12378992-chr18:12946352..12949410,8	K562	blood:
6	chr18:12880282..12884361-chr18:12946145..12949673,9	K562	blood:
7	chr18:12946986..12949410-chr18:12970714..12972312,2	MCF-7	breast:
8	chr18:12946883..12949783-chr18:12990489..12993346,5	MCF-7	breast:
9	chr18:12836738..12838821-chr18:12946925..12949352,2	K562	blood:
10	chr18:12701407..12705081-chr18:12945993..12949483,5	MCF-7	breast:
11	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
12	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
13	chr18:12700812..12705381-chr18:12946243..12950219,9	K562	blood:
14	chr18:12882771..12885367-chr18:12946819..12949664,2	MCF-7	breast:
15	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
16	chr18:12945869..12950267-chr18:12985686..12992743,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266969	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000128789	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12162175	1.00[ASN][1000 genomes]
rs3809911	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9949863	1.00[ASN][1000 genomes]
rs9960379	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3450694	chr18:12933001-12955144	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
10	esv3342017	chr18:12946977-12949725	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12946200-12949400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr18:12946400-12949400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr18:12946400-12949400	Active TSS	HSMM	muscle
4	chr18:12946600-12949400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr18:12946600-12949400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:12946800-12949400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:12947000-12949400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:12947000-12949400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:12948400-12949400	Flanking Active TSS	Dnd41	blood
10	chr18:12948400-12949400	Flanking Active TSS	GM12878-XiMat	blood
11	chr18:12948600-12949400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr18:12948600-12949400	Flanking Active TSS	Hela-S3	cervix
13	chr18:12948600-12949400	Flanking Active TSS	HepG2	liver
14	chr18:12948600-12950000	ZNF genes & repeats	Fetal Intestine Large	intestine
15	chr18:12948800-12949400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr18:12948800-12949400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr18:12948800-12950000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:12948800-12950000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr18:12948800-12950000	ZNF genes & repeats	Fetal Thymus	thymus
20	chr18:12948800-12951000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:12948800-12951000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr18:12948800-12951000	Weak transcription	Spleen	Spleen
23	chr18:12948800-12951200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:12948800-12951600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr18:12948800-12951800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr18:12948800-12953400	Weak transcription	HUVEC	blood vessel
27	chr18:12948800-12954400	Weak transcription	NHDF-Ad	bronchial
28	chr18:12948800-12957600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:12948800-12958200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr18:12948800-12958200	Weak transcription	Left Ventricle	heart
31	chr18:12948800-12958400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr18:12948800-12958400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:12948800-12963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:12948800-12963200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:12948800-12963200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr18:12948800-12963200	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:12948800-12963600	Weak transcription	Esophagus	oesophagus
38	chr18:12948800-12971000	Weak transcription	Ovary	ovary
39	chr18:12948800-12971600	Weak transcription	Pancreas	Pancrea
40	chr18:12948800-12976600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr18:12948800-12989000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:12949000-12949400	Enhancers	Primary B cells from peripheral blood	blood
43	chr18:12949000-12949400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr18:12949000-12949400	Active TSS	Liver	Liver
45	chr18:12949000-12949400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr18:12949000-12949400	Enhancers	Fetal Muscle Leg	muscle
47	chr18:12949000-12949400	ZNF genes & repeats	A549	lung
48	chr18:12949000-12949600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr18:12949000-12949600	Enhancers	Primary T cells from cord blood	blood
50	chr18:12949000-12949600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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