Variant report

Variant	rs6573934
Chromosome Location	chr14:70656231-70656232
allele	C/T
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	HDAC2	chr14:70655199-70656331	MCF-7	breast:	n/a	chr14:70656264-70656278
2	REST	chr14:70653864-70656399	H1-neurons	neurons:	n/a	chr14:70656270-70656290 chr14:70656271-70656289 chr14:70656270-70656290
3	MXI1	chr14:70653257-70657609	SK-N-SH	brain:	n/a	chr14:70654787-70654796
4	HA-E2F1	chr14:70655411-70656314	MCF-7	breast:	n/a	chr14:70655979-70655988 chr14:70656064-70656079

Variant related genes	Relation type
SLC8A3	TF binding region

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10083456	0.86[AFR][1000 genomes]
rs10132602	0.86[AFR][1000 genomes]
rs11158842	0.83[AFR][1000 genomes]
rs1425617	0.84[AFR][1000 genomes]
rs1571375	0.86[AFR][1000 genomes]
rs1834427	0.86[AFR][1000 genomes]
rs1834428	0.86[AFR][1000 genomes]
rs4899335	0.85[AFR][1000 genomes]
rs4899336	0.86[AFR][1000 genomes]
rs4902790	0.86[AFR][1000 genomes]
rs6573932	1.00[AFR][1000 genomes]
rs6573936	0.98[AFR][1000 genomes]
rs6573937	0.96[AFR][1000 genomes]
rs7142000	0.85[AFR][1000 genomes]
rs7156287	0.86[AFR][1000 genomes]
rs7159975	0.83[AFR][1000 genomes]
rs962872	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70653200-70656400	Active TSS	HSMM	muscle
2	chr14:70653400-70656400	Active TSS	Brain Angular Gyrus	brain
3	chr14:70653400-70656400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:70653400-70656600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr14:70653400-70656600	Active TSS	Fetal Brain Female	brain
6	chr14:70653600-70656600	Active TSS	HSMMtube	muscle
7	chr14:70653600-70656800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:70653600-70656800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:70653800-70656400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:70653800-70656400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
11	chr14:70653800-70656400	Active TSS	Psoas Muscle	Psoas
12	chr14:70654000-70656400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:70654200-70656400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:70654200-70656400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr14:70654400-70656400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:70654800-70656400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr14:70655000-70656400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:70655000-70656600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr14:70655000-70656600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:70655000-70657000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:70655200-70656400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr14:70655200-70656400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr14:70655200-70656400	Bivalent Enhancer	Spleen	Spleen
24	chr14:70655200-70656600	Active TSS	Brain Cingulate Gyrus	brain
25	chr14:70655200-70656800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr14:70655400-70656400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:70655400-70656800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr14:70655600-70656400	Enhancers	Fetal Brain Male	brain
29	chr14:70655600-70656400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr14:70655600-70656400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
31	chr14:70655600-70656600	Bivalent/Poised TSS	Colonic Mucosa	Colon
32	chr14:70655800-70656400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:70655800-70656400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr14:70655800-70656400	Flanking Active TSS	HMEC	breast
35	chr14:70655800-70656600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:70655800-70656800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr14:70655800-70657200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:70656000-70656400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:70656000-70656400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr14:70656000-70656400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:70656000-70656400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr14:70656000-70656400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:70656000-70656400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:70656000-70656400	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr14:70656000-70656400	Bivalent Enhancer	Liver	Liver
46	chr14:70656000-70656400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr14:70656000-70656400	Bivalent Enhancer	Colon Smooth Muscle	Colon
48	chr14:70656000-70656400	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr14:70656000-70656400	Bivalent/Poised TSS	NH-A	brain
50	chr14:70656000-70656600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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