Variant report

Variant	rs4049
Chromosome Location	chr14:65279118-65279119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65277232..65280033-chr14:65282761..65285500,2	K562	blood:
2	chr14:65272282..65274917-chr14:65276747..65279585,3	MCF-7	breast:
3	chr14:65277012..65279829-chr14:65281004..65282816,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10137840	0.88[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11158560	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11851715	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1271041	0.82[YRI][hapmap]
rs1695779	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17102113	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17102130	0.82[YRI][hapmap]
rs2750083	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28441086	0.85[EUR][1000 genomes]
rs371350	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389986	0.82[YRI][hapmap]
rs400646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs416807	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149843	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7342528	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs8022355	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516768	chr14:65277890-65279944	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv521286	chr14:65277890-65281944	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
2	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
4	chr14:65271400-65289800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:65273000-65279200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:65273800-65287200	Weak transcription	K562	blood
7	chr14:65274600-65284600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:65274800-65279200	Weak transcription	Fetal Heart	heart
9	chr14:65275000-65281800	Weak transcription	Right Ventricle	heart
10	chr14:65275800-65290000	Weak transcription	Psoas Muscle	Psoas
11	chr14:65278000-65279600	Enhancers	Hela-S3	cervix
12	chr14:65278200-65279200	Enhancers	A549	lung
13	chr14:65278400-65279200	Enhancers	Liver	Liver
14	chr14:65278400-65279400	Enhancers	HMEC	breast
15	chr14:65278400-65279600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:65278400-65280800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:65278800-65279200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr14:65278800-65279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65278800-65279400	Enhancers	Aorta	Aorta
20	chr14:65278800-65279600	Enhancers	Left Ventricle	heart
21	chr14:65279000-65279200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:65279000-65279200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:65279000-65279200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:65279000-65279200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr14:65279000-65279200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:65279000-65279200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr14:65279000-65279200	Enhancers	Stomach Mucosa	stomach
28	chr14:65279000-65279200	Bivalent Enhancer	Osteobl	bone
29	chr14:65279000-65279400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:65279000-65279400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr14:65279000-65279400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:65279000-65279400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:65279000-65279400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr14:65279000-65279400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:65279000-65279400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:65279000-65279400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:65279000-65279400	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:65279000-65279400	Bivalent Enhancer	Placenta	Placenta
39	chr14:65279000-65279400	Enhancers	Lung	lung
40	chr14:65279000-65279400	Enhancers	Pancreas	Pancrea
41	chr14:65279000-65279400	Enhancers	Right Atrium	heart
42	chr14:65279000-65279400	Flanking Active TSS	NHEK	skin
43	chr14:65279000-65279600	Enhancers	Primary B cells from peripheral blood	blood
44	chr14:65279000-65279600	Enhancers	Fetal Thymus	thymus
45	chr14:65279000-65279600	Enhancers	GM12878-XiMat	blood
46	chr14:65279000-65280200	Enhancers	Fetal Muscle Leg	muscle
47	chr14:65279000-65280800	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links