Variant report

Variant	rs73292528
Chromosome Location	chr12:46238944-46238945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46237610..46239308-chr12:46239537..46241693,2	MCF-7	breast:
2	chr12:46236989..46238497-chr12:46238786..46241535,2	K562	blood:
3	chr12:46236661..46238990-chr12:46243407..46246177,2	MCF-7	breast:
4	chr12:46233358..46235791-chr12:46238422..46240962,2	K562	blood:
5	chr12:46121411..46124554-chr12:46238644..46241941,4	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction
ENSG00000273015	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56884429	1.00[AFR][1000 genomes]
rs57470002	0.83[AFR][1000 genomes]
rs58544881	0.83[AFR][1000 genomes]
rs73290761	0.81[AFR][1000 genomes]
rs73290779	1.00[AFR][1000 genomes]
rs73290786	1.00[AFR][1000 genomes]
rs73290789	1.00[AFR][1000 genomes]
rs73290790	1.00[AFR][1000 genomes]
rs73292505	1.00[AFR][1000 genomes]
rs73292506	1.00[AFR][1000 genomes]
rs73292513	1.00[AFR][1000 genomes]
rs73292514	1.00[AFR][1000 genomes]
rs73292526	0.91[AFR][1000 genomes]
rs73292535	1.00[AFR][1000 genomes]
rs73292551	1.00[AFR][1000 genomes]
rs73292563	0.83[AFR][1000 genomes]
rs73292567	0.83[AFR][1000 genomes]
rs73292573	0.83[AFR][1000 genomes]
rs73292583	0.83[AFR][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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46177600-46243400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:46183800-46243400	Weak transcription	Small Intestine	intestine
3	chr12:46186800-46243400	Weak transcription	HSMMtube	muscle
4	chr12:46196400-46243200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:46200600-46244000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:46202600-46243400	Weak transcription	Aorta	Aorta
7	chr12:46202800-46243200	Weak transcription	Ovary	ovary
8	chr12:46202800-46243200	Weak transcription	Right Ventricle	heart
9	chr12:46203800-46243800	Weak transcription	Spleen	Spleen
10	chr12:46207400-46244400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:46214400-46244000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:46215800-46244000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:46216200-46244000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:46219000-46244000	Weak transcription	NHDF-Ad	bronchial
15	chr12:46220600-46243400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:46220600-46243400	Weak transcription	Pancreas	Pancrea
17	chr12:46223200-46244000	Weak transcription	NHLF	lung
18	chr12:46224000-46249400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:46226400-46243400	Weak transcription	Esophagus	oesophagus
20	chr12:46226600-46244200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:46228000-46244200	Weak transcription	Fetal Heart	heart
22	chr12:46228600-46244200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:46228800-46248200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:46228800-46249000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:46229600-46239000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:46229800-46248800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:46229800-46267800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:46230000-46239000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:46230000-46240400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:46230000-46249200	Strong transcription	Dnd41	blood
31	chr12:46230000-46249400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:46230000-46249600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:46230000-46249800	Strong transcription	Fetal Thymus	thymus
34	chr12:46230200-46248600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:46230200-46248800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:46230400-46248000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:46230600-46239400	Strong transcription	Primary B cells from cord blood	blood
38	chr12:46230600-46240600	Strong transcription	Liver	Liver
39	chr12:46230600-46249200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:46231000-46244000	Weak transcription	Brain Anterior Caudate	brain
41	chr12:46232200-46242000	Weak transcription	NHEK	skin
42	chr12:46232400-46243400	Weak transcription	Left Ventricle	heart
43	chr12:46233000-46244600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:46233800-46243200	Weak transcription	Brain Substantia Nigra	brain
45	chr12:46233800-46243200	Weak transcription	HMEC	breast
46	chr12:46233800-46243400	Weak transcription	Thymus	Thymus
47	chr12:46233800-46244000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:46234000-46241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:46234000-46241400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:46234000-46243200	Weak transcription	H9 Cell Line	embryonic stem cell

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