Variant report

Variant	rs2285007
Chromosome Location	chr14:65257334-65257335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65255152..65259640-chr14:65260607..65263310,4	K562	blood:
2	chr14:65239361..65240038-chr14:65257073..65257791,2	MCF-7	breast:
3	chr14:65250375..65252086-chr14:65255128..65257379,2	K562	blood:
4	chr14:65255220..65257870-chr14:65263739..65266430,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11623771	0.87[EUR][1000 genomes]
rs1875053	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2269303	0.82[ASN][1000 genomes]
rs2269304	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4899146	0.85[EUR][1000 genomes]
rs4902315	0.85[EUR][1000 genomes]
rs7157420	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	esv2757572	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2759994	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65232200-65274200	Weak transcription	Gastric	stomach
4	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
5	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:65245200-65257600	Weak transcription	HSMMtube	muscle
8	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
9	chr14:65251000-65261000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:65251200-65260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
12	chr14:65251400-65257400	Weak transcription	Brain Germinal Matrix	brain
13	chr14:65251400-65259600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:65251600-65264400	Weak transcription	Fetal Heart	heart
15	chr14:65251800-65258000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:65252200-65265600	Weak transcription	Fetal Brain Female	brain
17	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
19	chr14:65253800-65257800	Weak transcription	Fetal Stomach	stomach
20	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
21	chr14:65254600-65257400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:65254800-65257800	Enhancers	HMEC	breast
23	chr14:65254800-65259800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:65255000-65258600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:65255200-65258600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:65255600-65257800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:65255600-65268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:65255800-65260400	Weak transcription	K562	blood
29	chr14:65256200-65258200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:65256400-65258000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:65256400-65258400	Weak transcription	A549	lung
32	chr14:65256400-65258600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr14:65256600-65257800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:65256600-65257800	Strong transcription	Left Ventricle	heart
35	chr14:65256600-65258000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr14:65256600-65258000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:65256600-65258000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:65256600-65258200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:65257000-65257400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr14:65257000-65257400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:65257000-65257600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:65257000-65257600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr14:65257200-65271600	Strong transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links