Variant report

Variant	rs2275124
Chromosome Location	chr14:70171418-70171419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70167441..70169384-chr14:70170889..70173121,2	K562	blood:
2	chr14:70169497..70172180-chr14:70172528..70176030,3	MCF-7	breast:
3	chr14:70158665..70161434-chr14:70169533..70173159,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11620826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622092	0.80[EUR][1000 genomes]
rs11623812	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11627867	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11629212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12587433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1275747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1275748	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1275749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17107177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1763223	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1957365	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2332163	0.86[JPT][hapmap]
rs3784143	1.00[EUR][1000 genomes]
rs3784144	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3784149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825736	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4902742	0.86[EUR][1000 genomes]
rs57016627	0.82[EUR][1000 genomes]
rs61980727	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61980737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61982060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982061	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61982064	0.80[EUR][1000 genomes]
rs61982065	0.80[EUR][1000 genomes]
rs8010776	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8020026	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70160000-70177600	Weak transcription	Fetal Brain Female	brain
2	chr14:70161200-70176200	Weak transcription	NHDF-Ad	bronchial
3	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:70162800-70178000	Weak transcription	HSMM	muscle
5	chr14:70163000-70175600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:70163000-70177800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:70163200-70175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
10	chr14:70163600-70176000	Weak transcription	NHEK	skin
11	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70164600-70174000	Weak transcription	HMEC	breast
13	chr14:70166600-70175400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:70166600-70179000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:70168000-70177400	Strong transcription	Fetal Intestine Small	intestine
16	chr14:70168200-70172800	Genic enhancers	Fetal Thymus	thymus
17	chr14:70168200-70179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:70168400-70175000	Weak transcription	Stomach Mucosa	stomach
19	chr14:70169000-70171600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:70169000-70175400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:70169000-70175400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70169000-70175400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:70169000-70177600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:70169200-70176200	Weak transcription	Fetal Brain Male	brain
25	chr14:70169400-70175400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:70169600-70175000	Weak transcription	Colonic Mucosa	Colon
27	chr14:70169600-70175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:70170000-70171600	Genic enhancers	Esophagus	oesophagus
29	chr14:70170000-70171600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr14:70170000-70171600	Genic enhancers	Right Ventricle	heart
31	chr14:70170000-70171800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:70170000-70171800	Strong transcription	Aorta	Aorta
33	chr14:70170000-70172000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:70170000-70172600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:70170000-70172600	Genic enhancers	Lung	lung
36	chr14:70170000-70172600	Strong transcription	NHLF	lung
37	chr14:70170000-70178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:70170000-70178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:70170000-70178200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:70170000-70178400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:70170200-70171600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:70170200-70171600	Genic enhancers	Placenta	Placenta
43	chr14:70170200-70171600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr14:70170200-70171800	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr14:70170200-70172200	Genic enhancers	Left Ventricle	heart
46	chr14:70170200-70172600	Genic enhancers	Adipose Nuclei	Adipose
47	chr14:70170200-70172800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:70170200-70173600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:70170200-70173800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:70170200-70175000	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links