Variant report

Variant	rs8044956
Chromosome Location	chr16:70497086-70497087
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70495439..70497105-chr16:70502567..70504359,2	K562	blood:
2	chr16:70495605..70497210-chr16:70502567..70505009,2	K562	blood:
3	chr16:70414009..70416973-chr16:70493742..70498097,6	MCF-7	breast:
4	chr16:70448317..70451152-chr16:70495785..70498499,2	K562	blood:
5	chr16:70495074..70498358-chr16:70501504..70504908,3	MCF-7	breast:
6	chr16:70425984..70427515-chr16:70495359..70497287,2	MCF-7	breast:
7	chr16:70413317..70415893-chr16:70494753..70497211,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260111	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11865368	1.00[AMR][1000 genomes]
rs11865863	1.00[AMR][1000 genomes]
rs11866628	1.00[AMR][1000 genomes]
rs16970191	1.00[AFR][1000 genomes]
rs16970331	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970335	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17878832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880242	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881069	1.00[AFR][1000 genomes]
rs17882800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3852697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3852698	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4999489	1.00[AMR][1000 genomes]
rs6499313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499319	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187719	1.00[AMR][1000 genomes]
rs7196295	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199043	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058032	1.00[AMR][1000 genomes]
rs8062097	1.00[AMR][1000 genomes]
rs8064090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv906873	chr16:70495911-70509838	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489200-70497200	Weak transcription	Aorta	Aorta
2	chr16:70489200-70506000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:70489200-70508800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:70489400-70497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:70489400-70497200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:70489400-70497200	Weak transcription	Primary B cells from cord blood	blood
7	chr16:70489400-70497200	Weak transcription	Brain Angular Gyrus	brain
8	chr16:70489400-70497200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:70489400-70497200	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:70489400-70497200	Weak transcription	Colonic Mucosa	Colon
11	chr16:70489400-70497200	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:70489400-70497200	Weak transcription	Gastric	stomach
13	chr16:70489400-70497200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:70489400-70497200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:70489400-70497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:70489400-70497400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr16:70489400-70497400	Weak transcription	Ovary	ovary
18	chr16:70489400-70497600	Weak transcription	Esophagus	oesophagus
19	chr16:70489400-70497800	Weak transcription	Fetal Kidney	kidney
20	chr16:70489400-70500600	Weak transcription	Brain Germinal Matrix	brain
21	chr16:70489400-70500600	Weak transcription	Fetal Lung	lung
22	chr16:70489400-70504600	Weak transcription	A549	lung
23	chr16:70489400-70508800	Weak transcription	HMEC	breast
24	chr16:70489400-70509000	Weak transcription	NHEK	skin
25	chr16:70489400-70509400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:70489400-70510600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr16:70489400-70511800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:70489400-70512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
34	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
35	chr16:70489600-70497200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr16:70489600-70497200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:70489600-70497200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr16:70490000-70497200	Weak transcription	Pancreas	Pancrea
39	chr16:70490000-70497200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:70490000-70497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:70490200-70497200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr16:70490200-70504400	Weak transcription	Hela-S3	cervix
43	chr16:70490200-70514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:70490400-70497200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:70490400-70497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:70490400-70497200	Weak transcription	Brain Substantia Nigra	brain
47	chr16:70490600-70497200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr16:70490600-70497200	Weak transcription	Dnd41	blood
49	chr16:70490600-70505600	Weak transcription	K562	blood
50	chr16:70495000-70497200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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