Variant report

Variant	rs2180769
Chromosome Location	chr14:68799102-68799103
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68797384..68800129-chr14:68809250..68811315,3	MCF-7	breast:
2	chr14:68798605..68800534-chr14:68804811..68807442,2	K562	blood:
3	chr14:68793230..68795249-chr14:68798426..68801112,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240210	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10141370	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1028577	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10483807	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1108590	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158728	0.94[EUR][1000 genomes]
rs11158729	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158730	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11626138	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11626195	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11627646	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628825	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628890	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628954	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12878627	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12878858	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12880109	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12880842	0.92[EUR][1000 genomes]
rs12881502	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12883719	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12884901	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12885750	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12886238	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12889949	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890110	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890124	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890167	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12892777	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12896939	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1956524	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956525	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1956526	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1956528	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956529	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956532	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2013413	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2064911	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064912	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145422	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2145423	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2180770	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2877455	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784104	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784108	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784109	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825730	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61985135	0.92[EUR][1000 genomes]
rs61985136	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146850	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147852	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7148073	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7150988	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155473	0.89[EUR][1000 genomes]
rs7158493	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017304	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911254	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:68788200-68807000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:68790800-68799200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:68795400-68799200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:68796600-68799800	Enhancers	Fetal Lung	lung
8	chr14:68796800-68800200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:68798000-68799400	Enhancers	Fetal Kidney	kidney
10	chr14:68798200-68799200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:68798200-68799200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:68798200-68799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:68798200-68799400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:68798200-68799400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:68798200-68799400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:68798200-68799600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:68798200-68799600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:68798200-68799600	Enhancers	GM12878-XiMat	blood
19	chr14:68798200-68799800	Enhancers	Fetal Intestine Small	intestine
20	chr14:68798200-68800000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:68798200-68800200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:68798200-68800200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:68798200-68800600	Enhancers	Colon Smooth Muscle	Colon
24	chr14:68798200-68802400	Enhancers	Primary B cells from cord blood	blood
25	chr14:68798400-68799400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:68798400-68799800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:68798400-68800000	Enhancers	Fetal Stomach	stomach
28	chr14:68798600-68799400	Enhancers	Stomach Smooth Muscle	stomach
29	chr14:68798800-68799200	Enhancers	Fetal Intestine Large	intestine
30	chr14:68798800-68799400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:68798800-68799600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:68798800-68799800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:68799000-68800000	Enhancers	Rectal Smooth Muscle	rectum

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