Variant report

Variant	rs17123234
Chromosome Location	chr12:49071607-49071608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49071141..49073350-chr12:49108510..49110706,2	K562	blood:

Variant related genes	Relation type
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10506282	1.00[AMR][1000 genomes]
rs17123238	1.00[AMR][1000 genomes]
rs17123259	1.00[AMR][1000 genomes]
rs17123261	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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49036800-49072000	Strong transcription	Liver	Liver
2	chr12:49037800-49072400	Strong transcription	Placenta	Placenta
3	chr12:49038800-49071800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49039000-49072200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:49039400-49071800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:49040000-49072600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:49040400-49072800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:49041000-49071800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:49041800-49072400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:49041800-49073800	Strong transcription	Fetal Intestine Large	intestine
11	chr12:49042400-49072800	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:49044200-49072400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:49044200-49072800	Strong transcription	Fetal Thymus	thymus
14	chr12:49044400-49072400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:49044600-49072400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:49045400-49072600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr12:49045600-49071800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr12:49045600-49072400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:49045600-49073400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:49046200-49072600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:49057200-49072400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:49057800-49072800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:49058400-49074000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:49061600-49071800	Weak transcription	Small Intestine	intestine
25	chr12:49065600-49072400	Weak transcription	Stomach Mucosa	stomach
26	chr12:49065800-49071800	Weak transcription	Brain Substantia Nigra	brain
27	chr12:49065800-49072000	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:49065800-49072400	Weak transcription	HSMMtube	muscle
29	chr12:49065800-49072400	Weak transcription	NHLF	lung
30	chr12:49065800-49072600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:49065800-49072600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:49065800-49072800	Weak transcription	Esophagus	oesophagus
33	chr12:49065800-49074600	Weak transcription	Aorta	Aorta
34	chr12:49066000-49071800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:49066400-49072600	Weak transcription	Ovary	ovary
36	chr12:49066400-49075000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:49066600-49072000	Weak transcription	Fetal Brain Female	brain
38	chr12:49066600-49072400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:49066600-49072800	Weak transcription	Right Ventricle	heart
40	chr12:49066600-49073400	Weak transcription	Gastric	stomach
41	chr12:49066800-49072600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:49067000-49072600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:49067600-49071800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:49067600-49072600	Weak transcription	Colonic Mucosa	Colon
45	chr12:49067600-49073400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:49068200-49073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:49068400-49071800	Weak transcription	Fetal Lung	lung
48	chr12:49068400-49072400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:49068600-49072800	Weak transcription	Pancreas	Pancrea
50	chr12:49068800-49072400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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