Variant report

Variant	rs30408
Chromosome Location	chr16:79627282-79627283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:78160357..78162978-chr16:79625848..79627418,2	MCF-7	breast:
2	chr16:79622643..79628144-chr16:79628669..79635430,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178573	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs185133	0.84[ASN][1000 genomes]
rs250158	0.84[ASN][1000 genomes]
rs250165	0.84[ASN][1000 genomes]
rs250166	0.84[ASN][1000 genomes]
rs250170	0.84[ASN][1000 genomes]
rs30405	0.82[ASN][1000 genomes]
rs30406	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs30407	1.00[ASN][1000 genomes]
rs30411	1.00[ASN][1000 genomes]
rs381823	0.84[ASN][1000 genomes]
rs398465	0.84[ASN][1000 genomes]
rs399239	0.84[ASN][1000 genomes]
rs40965	1.00[ASN][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv457554	chr16:79608408-79645989	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv573289	chr16:79608408-79645989	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv827768	chr16:79615278-79640094	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79622200-79631400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:79623800-79629200	Weak transcription	Aorta	Aorta
3	chr16:79624000-79628800	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:79624000-79629000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:79624000-79629800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr16:79624400-79629000	Weak transcription	Ovary	ovary
7	chr16:79624600-79627600	Weak transcription	Small Intestine	intestine
8	chr16:79624800-79627600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr16:79624800-79627600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr16:79624800-79629000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:79624800-79629600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:79624800-79630000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:79624800-79630800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:79624800-79631400	Weak transcription	Esophagus	oesophagus
15	chr16:79624800-79632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:79625000-79627600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr16:79625000-79628000	Weak transcription	Placenta	Placenta
18	chr16:79625000-79628600	Weak transcription	Fetal Intestine Small	intestine
19	chr16:79625000-79629200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr16:79625400-79627400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr16:79625400-79627400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr16:79625400-79628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr16:79625400-79628400	Weak transcription	Fetal Intestine Large	intestine
24	chr16:79625800-79627400	Active TSS	Brain Substantia Nigra	brain
25	chr16:79625800-79627800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr16:79625800-79636800	Active TSS	Psoas Muscle	Psoas
27	chr16:79626000-79628600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
28	chr16:79626200-79628600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:79626400-79627600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:79626400-79628800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr16:79626400-79629400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr16:79626400-79631800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr16:79626600-79627400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:79626600-79627600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:79626600-79628400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:79626600-79628600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:79626600-79629200	Weak transcription	Fetal Stomach	stomach
38	chr16:79626600-79632400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr16:79626800-79627400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:79626800-79627400	Genic enhancers	Fetal Muscle Leg	muscle
41	chr16:79626800-79627600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
42	chr16:79626800-79627600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr16:79626800-79627800	Active TSS	Right Atrium	heart
44	chr16:79626800-79628000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr16:79626800-79628000	Flanking Active TSS	Liver	Liver
46	chr16:79626800-79628800	Weak transcription	Fetal Kidney	kidney
47	chr16:79626800-79629200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr16:79626800-79636400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:79627000-79627400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:79627000-79627400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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