Variant report

Variant	rs74097893
Chromosome Location	chr12:66515872-66515873
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66514117..66516247-chr12:66517268..66518852,2	MCF-7	breast:
2	chr12:66512047..66516114-chr12:66522625..66525849,5	MCF-7	breast:
3	chr12:66506596..66509423-chr12:66515723..66518011,2	K562	blood:

Variant related genes	Relation type
ENSG00000139233	Chromatin interaction
ENSG00000239335	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11465963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56914246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59800391	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097897	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097899	1.00[AMR][1000 genomes]
rs74097900	1.00[AMR][1000 genomes]
rs74097901	1.00[AMR][1000 genomes]
rs74097902	1.00[AMR][1000 genomes]
rs74100103	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66501200-66516000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:66501600-66516000	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:66501600-66517600	Weak transcription	Right Ventricle	heart
4	chr12:66501800-66516800	Weak transcription	NHEK	skin
5	chr12:66502000-66518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:66502400-66516000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:66502400-66518400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:66502600-66516000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:66502600-66516200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:66505400-66516000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:66506400-66516400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:66509000-66518200	Weak transcription	Esophagus	oesophagus
13	chr12:66509000-66519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:66509000-66523800	Weak transcription	Pancreas	Pancrea
15	chr12:66509200-66523600	Weak transcription	Gastric	stomach
16	chr12:66509600-66518000	Weak transcription	Ovary	ovary
17	chr12:66511000-66516000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:66511400-66518200	Weak transcription	Fetal Kidney	kidney
19	chr12:66511600-66516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:66512000-66516000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:66512000-66522200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:66512200-66516000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:66512400-66516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:66512600-66516000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:66512600-66516200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:66512600-66516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:66512600-66518000	Weak transcription	Psoas Muscle	Psoas
28	chr12:66512800-66517800	Weak transcription	K562	blood
29	chr12:66513200-66516000	Weak transcription	NH-A	brain
30	chr12:66513200-66516200	Weak transcription	Placenta	Placenta
31	chr12:66513200-66516800	Weak transcription	Fetal Stomach	stomach
32	chr12:66513200-66517400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:66513400-66516400	Weak transcription	HSMMtube	muscle
34	chr12:66513400-66517200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:66513400-66517600	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:66513400-66518200	Weak transcription	Aorta	Aorta
37	chr12:66513600-66517000	Weak transcription	HepG2	liver
38	chr12:66513600-66518000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:66513600-66518200	Weak transcription	Fetal Brain Male	brain
40	chr12:66513600-66522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:66513600-66522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:66513600-66522600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:66513600-66523400	Weak transcription	Small Intestine	intestine
44	chr12:66513600-66523800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:66513800-66516400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:66513800-66518600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:66513800-66521000	Strong transcription	Dnd41	blood
48	chr12:66513800-66522400	Strong transcription	Fetal Thymus	thymus
49	chr12:66513800-66522600	Strong transcription	Adipose Nuclei	Adipose
50	chr12:66514000-66516000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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