Variant report

Variant	rs1210975
Chromosome Location	chr14:35277039-35277040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35276280..35277782-chr14:35280404..35281934,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10131094	0.80[EUR][1000 genomes]
rs10141974	0.81[EUR][1000 genomes]
rs10147894	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10872891	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11628471	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11629136	0.84[ASN][1000 genomes]
rs1200394	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200400	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1200401	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1200402	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1200412	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474940	0.81[EUR][1000 genomes]
rs1959150	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1959151	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1959152	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1959155	0.80[EUR][1000 genomes]
rs1959156	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959157	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145028	0.92[ASN][1000 genomes]
rs2184621	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2275146	0.80[EUR][1000 genomes]
rs2275148	0.81[EUR][1000 genomes]
rs2383679	0.84[ASN][1000 genomes]
rs2891295	0.81[EUR][1000 genomes]
rs34132964	0.92[ASN][1000 genomes]
rs36121353	0.84[ASN][1000 genomes]
rs3783317	0.80[EUR][1000 genomes]
rs4387519	0.81[EUR][1000 genomes]
rs4982214	0.81[EUR][1000 genomes]
rs55805369	0.85[ASN][1000 genomes]
rs6571688	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7143639	0.81[EUR][1000 genomes]
rs7144793	0.81[EUR][1000 genomes]
rs7148938	0.81[EUR][1000 genomes]
rs7149749	0.81[EUR][1000 genomes]
rs7157311	0.81[EUR][1000 genomes]
rs7342501	0.81[EUR][1000 genomes]
rs7342504	0.81[EUR][1000 genomes]
rs7342544	0.81[EUR][1000 genomes]
rs8019098	0.81[EUR][1000 genomes]
rs9743779	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
3	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
4	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:35251600-35284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:35252200-35301000	Weak transcription	Psoas Muscle	Psoas
7	chr14:35252600-35277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:35257400-35282000	Strong transcription	Fetal Thymus	thymus
9	chr14:35258800-35277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:35260400-35283400	Strong transcription	Dnd41	blood
11	chr14:35262400-35279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:35262600-35283200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:35262600-35283800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:35265000-35278200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:35265000-35296000	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:35267800-35277600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:35267800-35292200	Weak transcription	Right Ventricle	heart
18	chr14:35268600-35280600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:35269000-35282600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:35269200-35277200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:35269200-35298000	Weak transcription	Ovary	ovary
22	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
23	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:35269800-35290000	Weak transcription	Placenta	Placenta
25	chr14:35270200-35286800	Weak transcription	Fetal Heart	heart
26	chr14:35270400-35303400	Weak transcription	Stomach Mucosa	stomach
27	chr14:35270800-35277200	Strong transcription	Fetal Intestine Large	intestine
28	chr14:35271800-35291400	Weak transcription	Spleen	Spleen
29	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
30	chr14:35272000-35290000	Weak transcription	Small Intestine	intestine
31	chr14:35272000-35296200	Weak transcription	Brain Germinal Matrix	brain
32	chr14:35272200-35279400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:35272200-35279400	Weak transcription	NH-A	brain
34	chr14:35272200-35291200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:35272400-35277200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:35272400-35278600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:35272400-35279400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:35272400-35290800	Weak transcription	Fetal Stomach	stomach
39	chr14:35272400-35300200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:35273400-35278200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:35273400-35280200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:35273800-35277200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:35273800-35280200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:35273800-35282600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr14:35274200-35311800	Weak transcription	HSMMtube	muscle
47	chr14:35274400-35277400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:35274400-35282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:35274400-35282200	Weak transcription	Lung	lung
50	chr14:35274400-35296400	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links