Variant report

Variant	rs4999488
Chromosome Location	chr16:70465853-70465854
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr16:70414339..70417004-chr16:70465838..70469101,3	MCF-7	breast:
7	chr16:70453838..70456062-chr16:70463491..70466263,2	MCF-7	breast:
8	chr16:70461008..70469152-chr16:70556160..70559876,10	K562	blood:
9	chr16:70460964..70466132-chr16:70555553..70559173,8	K562	blood:

No data

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

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11859870	0.84[AMR][1000 genomes]
rs11861486	0.84[AMR][1000 genomes]
rs11863943	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11864179	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11864326	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865484	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11865564	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970121	0.84[AMR][1000 genomes]
rs16970133	0.84[AMR][1000 genomes]
rs16970147	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16970149	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970151	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970152	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970153	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970165	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970169	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17878609	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879665	0.91[AMR][1000 genomes]
rs17880268	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881219	0.91[AMR][1000 genomes]
rs17886064	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35904382	0.84[AMR][1000 genomes]
rs55769835	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55775924	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55916527	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs56043981	0.81[AMR][1000 genomes]
rs56050266	0.84[AMR][1000 genomes]
rs56082018	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs56096542	0.81[AMR][1000 genomes]
rs56348821	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs56836664	0.84[AMR][1000 genomes]
rs57422630	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58047061	0.84[AMR][1000 genomes]
rs58055772	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58328210	0.81[AMR][1000 genomes]
rs59552467	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59791510	0.81[AMR][1000 genomes]
rs60011151	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60045805	0.84[AMR][1000 genomes]
rs60387488	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60523557	0.81[AMR][1000 genomes]
rs60646112	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61284127	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61319691	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61369696	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6499312	0.84[AMR][1000 genomes]
rs6499314	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184248	0.81[AMR][1000 genomes]
rs7188864	0.84[AMR][1000 genomes]
rs7190536	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7195086	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7195104	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7199346	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199655	0.84[AMR][1000 genomes]
rs7203548	0.84[AMR][1000 genomes]
rs7203761	0.84[AMR][1000 genomes]
rs7205871	0.81[AMR][1000 genomes]
rs7205990	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7206347	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024199	0.81[AMR][1000 genomes]
rs74024200	0.81[AMR][1000 genomes]
rs74026026	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs74026033	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026049	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8046280	0.81[AMR][1000 genomes]
rs8049046	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8051869	0.81[AMR][1000 genomes]
rs8053040	0.81[AMR][1000 genomes]
rs8053883	0.84[AMR][1000 genomes]
rs8054203	0.84[AMR][1000 genomes]
rs8058735	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8062602	0.84[AFR][1000 genomes];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	chr16:70461000-70468400	Enhancers	Placenta	Placenta
8	chr16:70461400-70467600	Enhancers	Fetal Thymus	thymus
9	chr16:70461600-70466600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:70461600-70467600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr16:70461800-70468800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr16:70462600-70466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:70462600-70466800	Enhancers	Duodenum Mucosa	Duodenum
14	chr16:70462600-70467200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr16:70462600-70467800	Enhancers	HUVEC	blood vessel
16	chr16:70462600-70468000	Enhancers	Fetal Kidney	kidney
17	chr16:70462600-70469200	Enhancers	NHDF-Ad	bronchial
18	chr16:70462800-70466400	Enhancers	Fetal Lung	lung
19	chr16:70462800-70467400	Weak transcription	NHEK	skin
20	chr16:70462800-70468200	Enhancers	Fetal Muscle Trunk	muscle
21	chr16:70463000-70466000	Weak transcription	Brain Germinal Matrix	brain
22	chr16:70463000-70466400	Enhancers	Stomach Smooth Muscle	stomach
23	chr16:70463000-70466600	Weak transcription	Aorta	Aorta
24	chr16:70463000-70466600	Weak transcription	HSMMtube	muscle
25	chr16:70463000-70467000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr16:70463000-70468400	Weak transcription	Fetal Brain Male	brain
27	chr16:70463200-70468200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:70463200-70468200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr16:70463600-70466400	Enhancers	Colon Smooth Muscle	Colon
30	chr16:70463800-70466600	Enhancers	Rectal Smooth Muscle	rectum
31	chr16:70463800-70468000	Enhancers	Small Intestine	intestine
32	chr16:70463800-70468600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr16:70464000-70466000	Genic enhancers	Fetal Intestine Large	intestine
34	chr16:70464000-70469200	Genic enhancers	Fetal Stomach	stomach
35	chr16:70464400-70467000	Weak transcription	Fetal Brain Female	brain
36	chr16:70464400-70467200	Enhancers	Dnd41	blood
37	chr16:70464600-70466600	Weak transcription	Esophagus	oesophagus
38	chr16:70464800-70466400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:70464800-70466400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr16:70464800-70466400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr16:70464800-70466800	Weak transcription	Brain Substantia Nigra	brain
42	chr16:70464800-70466800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr16:70464800-70467000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr16:70464800-70467000	Enhancers	Adipose Nuclei	Adipose
45	chr16:70464800-70467000	Enhancers	A549	lung
46	chr16:70465000-70466200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:70465000-70466400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:70465000-70466400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:70465000-70466400	Weak transcription	Brain Angular Gyrus	brain
50	chr16:70465000-70466400	Weak transcription	NHLF	lung

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