Variant report

Variant	rs34007971
Chromosome Location	chr16:30616317-30616318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30581621..30585438-chr16:30615517..30619295,3	MCF-7	breast:
2	chr16:30615982..30618326-chr16:30620624..30622912,2	K562	blood:
3	chr16:30601957..30605105-chr16:30615089..30618135,3	K562	blood:
4	chr16:30614887..30616635-chr16:30644253..30647134,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239791	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000156853	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11859342	1.00[EUR][1000 genomes]
rs11862680	1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs58223373	1.00[EUR][1000 genomes]
rs58223875	1.00[EUR][1000 genomes]
rs60048183	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs74015016	1.00[EUR][1000 genomes]
rs74015017	1.00[EUR][1000 genomes]
rs74015019	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8044106	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051182	1.00[EUR][1000 genomes]
rs8061273	0.97[AFR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs8062907	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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 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	chr16:30598400-30620000	Weak transcription	Fetal Brain Male	brain
2	chr16:30598400-30620200	Weak transcription	HUVEC	blood vessel
3	chr16:30598600-30619000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:30606000-30620600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:30609800-30620200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:30610000-30620000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:30610000-30620200	Weak transcription	Stomach Mucosa	stomach
8	chr16:30612400-30620400	Weak transcription	Primary B cells from cord blood	blood
9	chr16:30613200-30618200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:30613200-30619000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:30613200-30619200	Strong transcription	Dnd41	blood
12	chr16:30613200-30619600	Strong transcription	Thymus	Thymus
13	chr16:30613200-30619800	Strong transcription	Fetal Thymus	thymus
14	chr16:30613200-30620400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:30613400-30616800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:30613400-30617600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr16:30613400-30617800	Strong transcription	Primary T cells from cord blood	blood
18	chr16:30613400-30618000	Strong transcription	Brain Germinal Matrix	brain
19	chr16:30613400-30618000	Strong transcription	Fetal Brain Female	brain
20	chr16:30613400-30618400	Strong transcription	Brain Anterior Caudate	brain
21	chr16:30613400-30620200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:30613400-30620200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:30613600-30616600	Strong transcription	Aorta	Aorta
24	chr16:30613600-30618200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:30613600-30618200	Strong transcription	Brain Angular Gyrus	brain
26	chr16:30613600-30618800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr16:30613600-30619200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr16:30613600-30619600	Strong transcription	Fetal Lung	lung
29	chr16:30613600-30619600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr16:30613600-30620000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr16:30613800-30617000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:30613800-30618800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr16:30613800-30619600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:30614000-30616400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr16:30614000-30616600	Genic enhancers	Adipose Nuclei	Adipose
36	chr16:30614000-30617800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr16:30614000-30619600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:30614000-30620000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:30614000-30620200	Weak transcription	Fetal Heart	heart
40	chr16:30614200-30617600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:30614200-30618000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:30614200-30618400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr16:30614200-30618400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:30614200-30619600	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr16:30614200-30619600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:30614200-30619600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:30614200-30620600	Weak transcription	NH-A	brain
48	chr16:30614400-30616400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:30614400-30617000	Strong transcription	Brain Substantia Nigra	brain
50	chr16:30614400-30617000	Strong transcription	Gastric	stomach

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