Variant report

Variant	rs34380814
Chromosome Location	chr16:71488175-71488176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71487978..71492259-chr16:71492827..71496747,5	K562	blood:
2	chr16:71485371..71491957-chr16:71492064..71497509,13	K562	blood:

Variant related genes	Relation type
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12708914	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12927006	0.92[EUR][1000 genomes]
rs12927456	0.97[EUR][1000 genomes]
rs17280181	0.91[EUR][1000 genomes]
rs17345863	0.93[EUR][1000 genomes]
rs34015581	0.95[EUR][1000 genomes]
rs34766979	0.95[EUR][1000 genomes]
rs35394108	0.92[EUR][1000 genomes]
rs35837657	1.00[EUR][1000 genomes]
rs35981926	0.88[EUR][1000 genomes]
rs36122765	0.96[EUR][1000 genomes]
rs71403847	0.95[EUR][1000 genomes]
rs71403849	1.00[EUR][1000 genomes]
rs7195767	0.95[EUR][1000 genomes]
rs8051974	0.80[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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71479400-71489200	ZNF genes & repeats	Liver	Liver
2	chr16:71480600-71488200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:71480600-71491000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr16:71480800-71488200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:71481000-71489000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:71481600-71490400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr16:71481600-71493000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:71481800-71491000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:71482000-71488800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr16:71482000-71488800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
11	chr16:71482000-71489200	ZNF genes & repeats	GM12878-XiMat	blood
12	chr16:71482000-71489200	Strong transcription	HepG2	liver
13	chr16:71482000-71489600	ZNF genes & repeats	Fetal Stomach	stomach
14	chr16:71482000-71490200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:71482000-71490200	ZNF genes & repeats	Aorta	Aorta
16	chr16:71482000-71490600	ZNF genes & repeats	Ovary	ovary
17	chr16:71482000-71491000	ZNF genes & repeats	NHLF	lung
18	chr16:71482200-71488400	ZNF genes & repeats	Spleen	Spleen
19	chr16:71482400-71490800	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr16:71482400-71490800	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr16:71482600-71489600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr16:71483400-71491200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:71483600-71490800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:71484600-71488200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:71484600-71488600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:71484600-71490800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:71484600-71494600	Weak transcription	HUVEC	blood vessel
28	chr16:71484600-71495200	Weak transcription	Fetal Heart	heart
29	chr16:71484600-71495400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:71484800-71490400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:71484800-71490400	Strong transcription	Placenta	Placenta
32	chr16:71484800-71490600	Strong transcription	Brain Angular Gyrus	brain
33	chr16:71484800-71490800	Strong transcription	HSMMtube	muscle
34	chr16:71485000-71490600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr16:71485000-71490800	Strong transcription	Rectal Smooth Muscle	rectum
36	chr16:71485200-71490800	Strong transcription	Brain Substantia Nigra	brain
37	chr16:71485200-71490800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:71485400-71489000	Strong transcription	HMEC	breast
39	chr16:71485400-71490400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr16:71485400-71490600	ZNF genes & repeats	Lung	lung
41	chr16:71485400-71490800	Strong transcription	Fetal Intestine Large	intestine
42	chr16:71485400-71491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:71485600-71489400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:71485600-71490600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:71485600-71490600	Strong transcription	Right Ventricle	heart
46	chr16:71485600-71490800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:71485600-71490800	Strong transcription	Brain Anterior Caudate	brain
48	chr16:71486000-71488400	Weak transcription	Small Intestine	intestine
49	chr16:71486000-71490200	Strong transcription	Fetal Kidney	kidney
50	chr16:71486000-71490200	Strong transcription	HSMM	muscle

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