Variant report

Variant	rs2180792
Chromosome Location	chr14:39650234-39650235
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39649637..39651390-chr14:39735677..39737211,2	MCF-7	breast:
2	chr14:39649512..39652193-chr14:39897469..39900946,3	MCF-7	breast:
3	chr14:39632209..39634394-chr14:39648466..39651233,2	K562	blood:

Variant related genes	Relation type
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10132034	0.88[AMR][1000 genomes]
rs10132953	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10149829	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11157046	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157048	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434607	0.95[AMR][1000 genomes]
rs12895329	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs175341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950509	0.88[AMR][1000 genomes]
rs1956629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2038357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082637	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099410	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180214	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2180217	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2252040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415525	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs3899404	0.87[AFR][1000 genomes]
rs4290398	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616209	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902436	0.81[AMR][1000 genomes]
rs56163817	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6571889	0.88[AMR][1000 genomes]
rs6571890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6571891	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6571894	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6571895	0.86[AMR][1000 genomes]
rs6571896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571897	0.85[ASN][1000 genomes]
rs6571904	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6571905	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7140561	1.00[CEU][hapmap]
rs7147760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154585	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs761804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761806	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003194	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs8003485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007063	0.89[AMR][1000 genomes]
rs8010111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012178	0.84[AFR][1000 genomes]
rs8014255	1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021225	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022141	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671927	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39645600-39655400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:39645800-39651200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr14:39645800-39653000	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr14:39645800-39653400	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr14:39645800-39654600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:39645800-39655200	Strong transcription	Placenta	Placenta
7	chr14:39645800-39657200	Strong transcription	HSMM	muscle
8	chr14:39646000-39651400	Strong transcription	Fetal Kidney	kidney
9	chr14:39646000-39652800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:39646000-39654200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:39646000-39654800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:39646000-39654800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:39646000-39655200	Strong transcription	HSMMtube	muscle
14	chr14:39646200-39651000	Strong transcription	Esophagus	oesophagus
15	chr14:39646200-39651600	Genic enhancers	HUVEC	blood vessel
16	chr14:39646200-39652600	Strong transcription	Brain Anterior Caudate	brain
17	chr14:39646200-39653000	Strong transcription	Fetal Lung	lung
18	chr14:39646200-39654400	Strong transcription	Primary B cells from cord blood	blood
19	chr14:39646200-39654400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:39646200-39654400	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr14:39646200-39654600	Strong transcription	Osteobl	bone
22	chr14:39646200-39654800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:39646200-39654800	Strong transcription	Fetal Brain Female	brain
24	chr14:39646200-39655000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr14:39646400-39651200	Strong transcription	Colonic Mucosa	Colon
26	chr14:39646400-39651200	Strong transcription	Rectal Smooth Muscle	rectum
27	chr14:39646400-39652600	Strong transcription	Brain Hippocampus Middle	brain
28	chr14:39646400-39653000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:39646400-39653000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr14:39646400-39653400	Strong transcription	NHDF-Ad	bronchial
31	chr14:39646400-39654200	Strong transcription	Brain Substantia Nigra	brain
32	chr14:39646400-39654400	Strong transcription	NHLF	lung
33	chr14:39646400-39654800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:39646400-39654800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:39646400-39654800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:39646400-39655000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:39646400-39655000	Strong transcription	HMEC	breast
38	chr14:39646400-39655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:39646400-39655200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:39646400-39655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:39646400-39655400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:39646400-39655400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:39646400-39655800	Strong transcription	Fetal Thymus	thymus
44	chr14:39646600-39650400	Strong transcription	Gastric	stomach
45	chr14:39646600-39651000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:39646600-39651000	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:39646600-39651000	Strong transcription	Fetal Stomach	stomach
48	chr14:39646600-39651000	Strong transcription	Pancreas	Pancrea
49	chr14:39646600-39651400	Strong transcription	Left Ventricle	heart
50	chr14:39646600-39653200	Strong transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links