Variant report

Variant	rs3783700
Chromosome Location	chr14:45598870-45598871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45590108..45592098-chr14:45598723..45600319,2	MCF-7	breast:
2	chr14:45596796..45599715-chr14:45601507..45604605,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10130368	0.89[JPT][hapmap]
rs10130377	0.84[JPT][hapmap]
rs10131615	0.88[JPT][hapmap]
rs10132547	0.89[JPT][hapmap]
rs10132949	0.89[JPT][hapmap]
rs10134071	0.89[JPT][hapmap]
rs10134598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10135085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10135890	0.89[JPT][hapmap]
rs10138997	0.89[JPT][hapmap]
rs10140049	0.89[JPT][hapmap]
rs10140222	0.89[JPT][hapmap]
rs10141474	0.88[JPT][hapmap]
rs10143806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10145092	0.88[JPT][hapmap]
rs10145267	0.89[JPT][hapmap]
rs10152101	0.89[JPT][hapmap]
rs1053667	0.89[JPT][hapmap]
rs11157424	0.89[JPT][hapmap]
rs11844832	0.89[JPT][hapmap]
rs11845956	0.89[JPT][hapmap]
rs11847336	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11848799	0.89[JPT][hapmap]
rs12100842	0.88[JPT][hapmap]
rs17115809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17115811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2016738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033385	0.89[JPT][hapmap]
rs28448551	0.89[JPT][hapmap]
rs28637857	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3742591	0.86[AMR][1000 genomes]
rs3783702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3825625	0.89[JPT][hapmap]
rs3825627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3825628	0.94[ASN][1000 genomes]
rs3825629	0.89[JPT][hapmap]
rs4141578	0.89[JPT][hapmap];0.86[AMR][1000 genomes]
rs4470059	1.00[YRI][hapmap]
rs57003561	0.90[ASN][1000 genomes]
rs57602646	0.87[ASN][1000 genomes]
rs58826926	0.90[ASN][1000 genomes]
rs59353994	1.00[ASN][1000 genomes]
rs61155826	0.92[ASN][1000 genomes]
rs7146566	0.89[JPT][hapmap]
rs7147644	0.86[AMR][1000 genomes]
rs7158846	0.89[JPT][hapmap]
rs72474138	0.94[ASN][1000 genomes]
rs72621070	0.86[AMR][1000 genomes]
rs73340611	0.94[ASN][1000 genomes]
rs73340622	1.00[ASN][1000 genomes]
rs73340626	1.00[ASN][1000 genomes]
rs73349816	0.84[EUR][1000 genomes]
rs73349835	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73349842	0.90[ASN][1000 genomes]
rs73349853	0.85[ASN][1000 genomes]
rs73349857	0.90[ASN][1000 genomes]
rs73349858	0.88[ASN][1000 genomes]
rs73349868	0.94[ASN][1000 genomes]
rs8006685	0.89[JPT][hapmap]
rs8009193	0.89[JPT][hapmap]
rs8017844	0.89[JPT][hapmap]
rs8022008	0.89[JPT][hapmap]
rs8022499	0.98[ASN][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	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:45563600-45599600	Strong transcription	Dnd41	blood
6	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:45564000-45599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:45564000-45599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:45564000-45600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:45564200-45599200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:45564200-45599200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:45564200-45599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:45564400-45599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:45564400-45599200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:45564400-45599200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:45564400-45599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:45573800-45602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:45577200-45602800	Weak transcription	Aorta	Aorta
21	chr14:45579800-45599400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:45580000-45599200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:45581800-45600000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr14:45582200-45599000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr14:45583000-45599000	Strong transcription	Liver	Liver
26	chr14:45583000-45602800	Weak transcription	Stomach Mucosa	stomach
27	chr14:45583200-45602000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:45583800-45602800	Weak transcription	Fetal Brain Male	brain
29	chr14:45584800-45599000	Strong transcription	Fetal Intestine Large	intestine
30	chr14:45585600-45602000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:45586400-45602400	Weak transcription	Pancreas	Pancrea
32	chr14:45586600-45602600	Weak transcription	Colonic Mucosa	Colon
33	chr14:45586800-45602800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:45589200-45603000	Weak transcription	Gastric	stomach
35	chr14:45589200-45603200	Weak transcription	Spleen	Spleen
36	chr14:45589400-45599800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:45589600-45602600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:45589800-45600200	Weak transcription	Brain Angular Gyrus	brain
39	chr14:45590200-45599600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:45590200-45602000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:45590600-45601200	Weak transcription	Hela-S3	cervix
42	chr14:45590600-45602600	Weak transcription	Brain Substantia Nigra	brain
43	chr14:45590600-45602800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:45590800-45602200	Weak transcription	NHEK	skin
45	chr14:45590800-45602600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:45590800-45602600	Weak transcription	Right Ventricle	heart
47	chr14:45591000-45601000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:45591000-45602200	Weak transcription	HMEC	breast
49	chr14:45591800-45599000	Strong transcription	Primary T cells from cord blood	blood
50	chr14:45592000-45599000	Strong transcription	Primary B cells from peripheral blood	blood

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