Variant report

Variant	rs4999489
Chromosome Location	chr16:70465784-70465785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70432680..70434812-chr16:70463932..70466643,2	K562	blood:
2	chr16:70435585..70438513-chr16:70463372..70466196,4	K562	blood:
3	chr16:70446187..70457827-chr16:70459568..70470659,26	K562	blood:
4	chr16:70437013..70440067-chr16:70462393..70466171,3	K562	blood:
5	chr16:70465772..70467777-chr16:70471116..70473017,3	MCF-7	breast:
6	chr16:70453838..70456062-chr16:70463491..70466263,2	MCF-7	breast:
7	chr16:70461008..70469152-chr16:70556160..70559876,10	K562	blood:
8	chr16:70460964..70466132-chr16:70555553..70559173,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157350	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11865368	1.00[AMR][1000 genomes]
rs11865863	1.00[AMR][1000 genomes]
rs11866628	1.00[AMR][1000 genomes]
rs16970331	1.00[AMR][1000 genomes]
rs16970335	1.00[AMR][1000 genomes]
rs17878832	1.00[AMR][1000 genomes]
rs17879608	1.00[AMR][1000 genomes]
rs17880242	1.00[AMR][1000 genomes]
rs17880392	1.00[AMR][1000 genomes]
rs17882800	1.00[AMR][1000 genomes]
rs17883309	1.00[AMR][1000 genomes]
rs17885493	1.00[AMR][1000 genomes]
rs3852697	1.00[AMR][1000 genomes]
rs3852698	1.00[AMR][1000 genomes]
rs6499313	1.00[AMR][1000 genomes]
rs6499315	1.00[AMR][1000 genomes]
rs6499316	1.00[AMR][1000 genomes]
rs6499319	1.00[AMR][1000 genomes]
rs7187719	1.00[AMR][1000 genomes]
rs7196295	1.00[AMR][1000 genomes]
rs7199043	1.00[AMR][1000 genomes]
rs8044110	1.00[AMR][1000 genomes]
rs8044956	1.00[AMR][1000 genomes]
rs8058032	1.00[AMR][1000 genomes]
rs8062097	1.00[AMR][1000 genomes]
rs8064090	1.00[AMR][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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70453800-70470800	Genic enhancers	Fetal Intestine Small	intestine
2	chr16:70458000-70468400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:70460400-70467000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:70460800-70467400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:70460800-70467800	Enhancers	Spleen	Spleen
6	chr16:70460800-70469200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:70461000-70465800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:70461000-70468400	Enhancers	Placenta	Placenta
9	chr16:70461400-70467600	Enhancers	Fetal Thymus	thymus
10	chr16:70461600-70466600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:70461600-70467600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr16:70461800-70468800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr16:70462400-70465800	Enhancers	Brain Hippocampus Middle	brain
14	chr16:70462600-70465800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr16:70462600-70466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:70462600-70466800	Enhancers	Duodenum Mucosa	Duodenum
17	chr16:70462600-70467200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr16:70462600-70467800	Enhancers	HUVEC	blood vessel
19	chr16:70462600-70468000	Enhancers	Fetal Kidney	kidney
20	chr16:70462600-70469200	Enhancers	NHDF-Ad	bronchial
21	chr16:70462800-70465800	Enhancers	Fetal Heart	heart
22	chr16:70462800-70465800	Enhancers	NH-A	brain
23	chr16:70462800-70466400	Enhancers	Fetal Lung	lung
24	chr16:70462800-70467400	Weak transcription	NHEK	skin
25	chr16:70462800-70468200	Enhancers	Fetal Muscle Trunk	muscle
26	chr16:70463000-70466000	Weak transcription	Brain Germinal Matrix	brain
27	chr16:70463000-70466400	Enhancers	Stomach Smooth Muscle	stomach
28	chr16:70463000-70466600	Weak transcription	Aorta	Aorta
29	chr16:70463000-70466600	Weak transcription	HSMMtube	muscle
30	chr16:70463000-70467000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr16:70463000-70468400	Weak transcription	Fetal Brain Male	brain
32	chr16:70463200-70465800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:70463200-70468200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:70463200-70468200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr16:70463600-70466400	Enhancers	Colon Smooth Muscle	Colon
36	chr16:70463800-70466600	Enhancers	Rectal Smooth Muscle	rectum
37	chr16:70463800-70468000	Enhancers	Small Intestine	intestine
38	chr16:70463800-70468600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr16:70464000-70466000	Genic enhancers	Fetal Intestine Large	intestine
40	chr16:70464000-70469200	Genic enhancers	Fetal Stomach	stomach
41	chr16:70464400-70467000	Weak transcription	Fetal Brain Female	brain
42	chr16:70464400-70467200	Enhancers	Dnd41	blood
43	chr16:70464600-70466600	Weak transcription	Esophagus	oesophagus
44	chr16:70464800-70465800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:70464800-70465800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:70464800-70466400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:70464800-70466400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:70464800-70466400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr16:70464800-70466800	Weak transcription	Brain Substantia Nigra	brain
50	chr16:70464800-70466800	Enhancers	Skeletal Muscle Female	skeletal muscle

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