Variant report

Variant	rs891138
Chromosome Location	chr16:70459458-70459459
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70459077..70461181-chr16:70469014..70470537,2	MCF-7	breast:
2	chr16:70456594..70459989-chr16:70556737..70559441,3	K562	blood:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11643373	0.82[YRI][hapmap]
rs11648402	0.82[YRI][hapmap]
rs12102388	0.87[AMR][1000 genomes]
rs13330945	0.87[AMR][1000 genomes]
rs13334712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337437	1.00[EUR][1000 genomes]
rs13337689	0.87[AMR][1000 genomes]
rs1979594	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2168606	0.86[YRI][hapmap]
rs2303793	0.81[YRI][hapmap]
rs28613466	0.87[AMR][1000 genomes]
rs3852695	0.89[YRI][hapmap]
rs57301833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60575688	0.87[AMR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs6499320	0.87[YRI][hapmap]
rs7193598	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7200034	0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7200891	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202133	0.87[AMR][1000 genomes]
rs8045340	1.00[AMR][1000 genomes]
rs8057766	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs8062178	0.86[YRI][hapmap]
rs8063990	0.87[YRI][hapmap]
rs9921696	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs9924352	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9925510	0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs9927480	1.00[EUR][1000 genomes]
rs9931779	1.00[EUR][1000 genomes]
rs9934707	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv3355138	chr16:70456051-70460349	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	5 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	chr16:70433200-70461600	Weak transcription	Aorta	Aorta
2	chr16:70433400-70461600	Weak transcription	Brain Substantia Nigra	brain
3	chr16:70433600-70461600	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:70438400-70461600	Weak transcription	HSMM	muscle
5	chr16:70438600-70461600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:70438600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:70441800-70461600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:70445000-70461800	Weak transcription	Brain Germinal Matrix	brain
9	chr16:70445200-70461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:70446400-70461600	Weak transcription	HSMMtube	muscle
11	chr16:70448000-70464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:70448400-70460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:70448400-70461800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:70451800-70461400	Weak transcription	NHLF	lung
15	chr16:70452800-70461800	Weak transcription	Fetal Brain Female	brain
16	chr16:70453200-70461600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:70453400-70461600	Weak transcription	Fetal Brain Male	brain
18	chr16:70453600-70461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:70453800-70461600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:70453800-70470800	Genic enhancers	Fetal Intestine Small	intestine
21	chr16:70454200-70461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:70454400-70461600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr16:70454400-70461800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:70454400-70461800	Weak transcription	Esophagus	oesophagus
25	chr16:70454600-70460800	Weak transcription	Small Intestine	intestine
26	chr16:70454600-70461000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:70454800-70461000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:70455200-70461400	Weak transcription	Stomach Mucosa	stomach
29	chr16:70455200-70461600	Weak transcription	Brain Hippocampus Middle	brain
30	chr16:70455200-70461800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:70455400-70460800	Weak transcription	Gastric	stomach
32	chr16:70455400-70461000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr16:70455400-70461600	Weak transcription	Brain Angular Gyrus	brain
34	chr16:70455600-70461600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:70455600-70461600	Weak transcription	Pancreas	Pancrea
36	chr16:70455600-70461800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:70455800-70460200	Strong transcription	Fetal Stomach	stomach
38	chr16:70455800-70461600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr16:70455800-70461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr16:70455800-70461600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:70455800-70461600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:70455800-70461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:70455800-70462000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:70456000-70460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:70456200-70461000	Weak transcription	Psoas Muscle	Psoas
46	chr16:70456400-70461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:70456800-70460800	Weak transcription	Fetal Heart	heart
48	chr16:70456800-70461600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr16:70457000-70461600	Weak transcription	Liver	Liver
50	chr16:70457000-70462000	Weak transcription	NHEK	skin

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