Variant report

Variant	rs34109846
Chromosome Location	chr12:57574746-57574747
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: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	chr12:57571667..57574628-chr12:57574683..57576188,2	K562	blood:
2	chr12:57480163..57483856-chr12:57574484..57579428,5	K562	blood:
3	chr12:57568118..57572450-chr12:57574080..57578347,5	MCF-7	breast:
4	chr12:57518676..57520849-chr12:57573918..57575614,2	MCF-7	breast:
5	chr12:57470926..57473837-chr12:57572637..57576984,3	K562	blood:
6	chr12:57569511..57571112-chr12:57573350..57575534,2	MCF-7	breast:
7	chr12:57520493..57523197-chr12:57574304..57576602,2	MCF-7	breast:
8	chr12:57482035..57484005-chr12:57572891..57575984,3	K562	blood:
9	chr12:57521570..57523134-chr12:57574170..57576618,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166881	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000123384	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34423990	1.00[AMR][1000 genomes]
rs34548137	1.00[AMR][1000 genomes]
rs34740242	1.00[AMR][1000 genomes]
rs35103370	1.00[AMR][1000 genomes]
rs508163	1.00[AMR][1000 genomes]
rs6581127	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv899112	chr12:57535266-57601388	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899113	chr12:57543572-57601388	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv899114	chr12:57556768-57587839	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57531800-57576000	Strong transcription	Fetal Brain Female	brain
2	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:57547000-57575600	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr12:57547000-57575600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:57547400-57575400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:57547600-57575400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:57547600-57575600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:57549000-57575200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:57552800-57575200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
13	chr12:57552800-57607000	Strong transcription	Liver	Liver
14	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
15	chr12:57555400-57583200	Weak transcription	Fetal Heart	heart
16	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:57558000-57575800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:57558400-57575600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:57558800-57575600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:57560800-57606200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:57560800-57606600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:57565400-57575600	Strong transcription	Lung	lung
23	chr12:57565600-57576200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:57565800-57575200	Strong transcription	Fetal Lung	lung
25	chr12:57565800-57606600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:57566000-57604200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:57566200-57574800	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr12:57566200-57576000	Strong transcription	HSMMtube	muscle
29	chr12:57566400-57583600	Strong transcription	Colon Smooth Muscle	Colon
30	chr12:57566600-57575800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:57566600-57575800	Strong transcription	Right Ventricle	heart
32	chr12:57566600-57606200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:57566800-57575200	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr12:57566800-57575600	Strong transcription	Aorta	Aorta
35	chr12:57567000-57576000	Strong transcription	HepG2	liver
36	chr12:57567000-57576400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:57567200-57583600	Weak transcription	Right Atrium	heart
38	chr12:57567400-57584200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:57569400-57584000	Strong transcription	Rectal Smooth Muscle	rectum
40	chr12:57569600-57575600	Strong transcription	Brain Anterior Caudate	brain
41	chr12:57569600-57575600	Strong transcription	Gastric	stomach
42	chr12:57569600-57576000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:57569600-57576000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:57569800-57575600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr12:57569800-57575600	Strong transcription	Colonic Mucosa	Colon
46	chr12:57569800-57575600	Strong transcription	Ovary	ovary
47	chr12:57569800-57576000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:57569800-57600800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr12:57570000-57575400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:57570000-57576000	Strong transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links