Variant report

Variant	rs1200414
Chromosome Location	chr14:35330893-35330894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35327682..35333013-chr14:35342164..35345913,7	MCF-7	breast:
2	chr14:35328294..35330963-chr14:35340568..35342148,2	MCF-7	breast:
3	chr14:35326620..35331114-chr14:35341178..35344775,5	K562	blood:
4	chr14:35329109..35331182-chr14:35336949..35340434,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10136352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10150083	0.89[JPT][hapmap]
rs12323749	0.89[ASN][1000 genomes]
rs12323750	0.89[ASN][1000 genomes]
rs12431818	0.81[JPT][hapmap]
rs12433706	0.90[JPT][hapmap]
rs12435778	0.81[JPT][hapmap]
rs12436798	0.94[ASN][1000 genomes]
rs12587021	0.81[JPT][hapmap]
rs12590112	0.90[JPT][hapmap]
rs12879437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400745	0.90[JPT][hapmap]
rs17102726	0.81[JPT][hapmap]
rs17102768	0.81[JPT][hapmap]
rs17102795	0.85[JPT][hapmap]
rs17102829	0.91[JPT][hapmap]
rs1741196	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17526787	0.90[JPT][hapmap]
rs2383677	0.90[JPT][hapmap]
rs28472856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34072166	0.81[JPT][hapmap]
rs35153498	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783314	0.80[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783315	0.81[JPT][hapmap]
rs3783316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140479	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7140651	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7140903	1.00[ASN][1000 genomes]
rs7148400	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7150069	0.81[JPT][hapmap]
rs7153289	0.91[JPT][hapmap]
rs72678789	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799673	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs799677	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs799678	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs799679	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799680	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799681	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799682	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799683	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005470	0.82[JPT][hapmap]
rs8007965	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010579	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription 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	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv85205	chr14:35329756-35335693	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
4	chr14:35307000-35333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:35312200-35336200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:35312600-35335200	Weak transcription	Right Ventricle	heart
7	chr14:35312800-35331600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:35312800-35336600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:35312800-35341400	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:35312800-35341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:35312800-35341600	Weak transcription	Psoas Muscle	Psoas
12	chr14:35312800-35342200	Weak transcription	Small Intestine	intestine
13	chr14:35312800-35342400	Weak transcription	Left Ventricle	heart
14	chr14:35313600-35341600	Weak transcription	Brain Germinal Matrix	brain
15	chr14:35318200-35331400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:35318400-35342200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:35319200-35331600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:35320200-35332200	Strong transcription	HepG2	liver
19	chr14:35321600-35331400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:35321800-35342400	Weak transcription	Gastric	stomach
21	chr14:35322000-35331600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:35322600-35341400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:35322800-35341200	Weak transcription	HSMMtube	muscle
24	chr14:35322800-35342200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:35323200-35341800	Weak transcription	NHLF	lung
26	chr14:35323800-35342600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:35324600-35335200	Weak transcription	Lung	lung
28	chr14:35324600-35341600	Weak transcription	Fetal Lung	lung
29	chr14:35324600-35342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:35324800-35342200	Weak transcription	Ovary	ovary
31	chr14:35325600-35331200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:35325600-35331600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr14:35326200-35331400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:35326200-35331600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:35326600-35331400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:35326600-35331600	Strong transcription	NH-A	brain
37	chr14:35327000-35331400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:35327000-35331400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:35327000-35341600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:35327000-35342400	Weak transcription	Esophagus	oesophagus
41	chr14:35327200-35331000	Weak transcription	Aorta	Aorta
42	chr14:35327200-35331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:35327200-35342400	Weak transcription	Spleen	Spleen
44	chr14:35327400-35331600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:35327400-35331600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:35327400-35331600	Strong transcription	GM12878-XiMat	blood
47	chr14:35327400-35331800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:35327400-35332600	Weak transcription	Brain Angular Gyrus	brain
49	chr14:35327400-35338600	Weak transcription	K562	blood
50	chr14:35327600-35331000	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links