Variant report

Variant	rs7308208
Chromosome Location	chr12:57453846-57453847
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57451485..57454907-chr12:57478514..57481800,3	MCF-7	breast:
2	chr12:57400115..57404161-chr12:57453282..57458552,4	MCF-7	breast:
3	chr12:57448347..57452034-chr12:57452358..57454961,5	K562	blood:
4	chr12:57397640..57402458-chr12:57449819..57457812,10	MCF-7	breast:
5	chr12:57448687..57450706-chr12:57452452..57454961,2	K562	blood:
6	chr12:57452344..57454175-chr12:57455818..57458354,2	K562	blood:
7	chr12:57453470..57456593-chr12:57480727..57482526,3	K562	blood:
8	chr12:57451815..57454714-chr12:57635118..57636640,2	K562	blood:
9	chr12:57453005..57455126-chr12:57499058..57501789,3	K562	blood:
10	chr12:57452298..57454790-chr12:57456162..57458381,2	MCF-7	breast:
11	chr12:57452751..57457061-chr12:57481852..57484264,4	MCF-7	breast:
12	chr12:57442576..57444964-chr12:57453443..57456320,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166866	Chromatin interaction
ENSG00000166860	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3024981	1.00[CHB][hapmap]
rs3782327	1.00[CHB][hapmap]

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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv899111	chr12:57438658-57472502	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57420400-57471800	Weak transcription	Gastric	stomach
2	chr12:57437000-57471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57440400-57463200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:57442200-57471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:57442400-57456200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:57442400-57456800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:57444000-57463400	Weak transcription	Spleen	Spleen
8	chr12:57444600-57463400	Weak transcription	Colonic Mucosa	Colon
9	chr12:57445000-57464400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:57447800-57457400	Strong transcription	A549	lung
11	chr12:57448000-57462400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:57448000-57463400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:57448000-57472800	Weak transcription	Fetal Heart	heart
14	chr12:57448400-57462800	Strong transcription	Fetal Thymus	thymus
15	chr12:57448600-57456800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:57448600-57471800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:57449000-57454600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:57449000-57455000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:57449000-57467200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:57449000-57468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:57449000-57470600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:57449200-57454800	Strong transcription	HUVEC	blood vessel
23	chr12:57449200-57457200	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:57449200-57463200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:57449200-57466800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:57449600-57455000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:57449600-57459400	Strong transcription	Dnd41	blood
28	chr12:57449800-57454600	Strong transcription	Primary T cells from cord blood	blood
29	chr12:57449800-57454600	Strong transcription	NHLF	lung
30	chr12:57449800-57456600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:57449800-57458000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:57449800-57466800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:57450000-57454600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:57450000-57466800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:57450200-57455000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr12:57450200-57458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:57450200-57466800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:57450400-57454000	Genic enhancers	Fetal Intestine Large	intestine
39	chr12:57450400-57454600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:57450400-57454600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:57450400-57454600	Strong transcription	Thymus	Thymus
42	chr12:57450400-57454800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:57450400-57454800	Strong transcription	HMEC	breast
44	chr12:57450400-57457000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:57450600-57454200	Strong transcription	Adipose Nuclei	Adipose
46	chr12:57450600-57454200	Strong transcription	Liver	Liver
47	chr12:57450600-57454600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:57450600-57454600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:57450600-57454600	Strong transcription	Fetal Lung	lung
50	chr12:57450600-57454800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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