Variant report

Variant	rs73246585
Chromosome Location	chr12:21595970-21595971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21589203..21592796-chr12:21593700..21598591,5	MCF-7	breast:
2	chr12:21594525..21596330-chr12:21596660..21599628,2	K562	blood:

Variant related genes	Relation type
ENSG00000121350	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492116	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17619644	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17619980	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17620142	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17681644	0.84[AMR][1000 genomes]
rs17682057	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17682270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57595949	0.92[AFR][1000 genomes]
rs58874042	0.83[AFR][1000 genomes]
rs67351735	0.84[AMR][1000 genomes]
rs7133812	0.84[AMR][1000 genomes]
rs71537696	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71582885	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7304732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73246509	0.92[AFR][1000 genomes]
rs73248030	0.83[AFR][1000 genomes]
rs73249910	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74067190	0.83[AFR][1000 genomes]
rs74067201	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr12:21591400-21602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:21591600-21598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:21591600-21599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:21591600-21609000	Weak transcription	Brain Angular Gyrus	brain
6	chr12:21591600-21609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:21591800-21598600	Weak transcription	Fetal Brain Male	brain
8	chr12:21591800-21599000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:21591800-21600000	Weak transcription	HSMM	muscle
10	chr12:21591800-21601000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:21591800-21609000	Weak transcription	Fetal Heart	heart
12	chr12:21591800-21611000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:21592000-21597800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:21592000-21614200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
21	chr12:21592200-21596600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:21592200-21598400	Weak transcription	Fetal Kidney	kidney
23	chr12:21592200-21598600	Weak transcription	HUVEC	blood vessel
24	chr12:21592200-21609000	Weak transcription	NH-A	brain
25	chr12:21592200-21609000	Weak transcription	NHDF-Ad	bronchial
26	chr12:21592200-21609200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:21592400-21596200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:21592400-21610400	Weak transcription	NHEK	skin
29	chr12:21592600-21609200	Weak transcription	Small Intestine	intestine
30	chr12:21592800-21631400	Weak transcription	K562	blood
31	chr12:21593400-21597200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:21593400-21604400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:21593400-21606600	Strong transcription	Liver	Liver
34	chr12:21593400-21609000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr12:21593400-21609000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:21593400-21617800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:21593600-21596000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:21593600-21596000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:21593800-21596000	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr12:21594000-21617600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:21594200-21596600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:21594200-21601600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:21594400-21596000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:21594400-21596000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:21594400-21596000	Strong transcription	Placenta	Placenta
46	chr12:21594400-21596400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:21594600-21596000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:21594600-21596000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr12:21594600-21596400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:21594600-21597400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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