Variant report

Variant	rs10784306
Chromosome Location	chr12:62949110-62949111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62948110..62949717-chr12:62994806..62996596,2	K562	blood:
2	chr12:62947795..62949989-chr12:62996507..62998854,2	MCF-7	breast:
3	chr12:62939712..62942391-chr12:62948706..62950538,2	K562	blood:

Variant related genes	Relation type
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10128830	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10128959	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10161549	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10219555	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10219765	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10735907	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10735909	0.88[EUR][1000 genomes]
rs10747963	0.81[ASN][1000 genomes]
rs10747966	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784299	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10784302	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784303	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784307	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877860	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877863	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877865	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877866	0.93[CEU][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877868	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877869	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877872	0.84[ASN][1000 genomes]
rs10877873	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877876	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877878	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877880	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877882	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10877883	0.96[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877885	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877886	0.92[CEU][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877887	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877888	0.81[CEU][hapmap];0.83[ASN][1000 genomes]
rs11174493	0.96[CEU][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174497	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11174507	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174513	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174520	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174534	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174538	0.87[ASN][1000 genomes]
rs11174539	0.89[EUR][1000 genomes]
rs11174540	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174541	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174542	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174545	0.86[ASN][1000 genomes]
rs11174550	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174559	0.80[ASN][1000 genomes]
rs11495588	0.83[ASN][1000 genomes]
rs12227568	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12300696	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12305077	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12309683	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12357	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12578200	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12580048	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581171	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12809279	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12810119	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12829103	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1498713	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2029937	0.87[EUR][1000 genomes]
rs2047478	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047479	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141777	0.81[ASN][1000 genomes]
rs2220980	0.88[EUR][1000 genomes]
rs35409044	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4763021	0.92[CEU][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4763174	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4763177	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763179	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763180	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6581452	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581454	0.88[ASN][1000 genomes]
rs7134302	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136993	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71453871	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7294404	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7298782	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7302027	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7308021	0.81[ASN][1000 genomes]
rs7316612	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957417	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7963657	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7975183	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7975560	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
2	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
3	chr12:62903600-62949800	Weak transcription	NHEK	skin
4	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
7	chr12:62917400-62960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:62920000-62950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:62924400-62949800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:62924400-62969800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:62924800-62967600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:62925400-62949800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:62926000-62951400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:62926200-62949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:62926200-62951400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:62926200-62951600	Strong transcription	Fetal Thymus	thymus
18	chr12:62926200-62951800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:62926200-62955800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:62927400-62967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:62928000-62950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:62928000-62963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:62928200-62950000	Weak transcription	Fetal Brain Male	brain
24	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:62931800-62951400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:62932000-62957200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:62932400-62949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:62932400-62949800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:62934800-62955400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:62935000-62955200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:62935400-62956400	Strong transcription	Placenta	Placenta
32	chr12:62935600-62955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:62936000-62955200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:62936200-62951200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:62936200-62951400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:62936600-62956000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr12:62936800-62954600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:62937000-62951200	Strong transcription	Dnd41	blood
39	chr12:62938000-62995400	Weak transcription	Stomach Mucosa	stomach
40	chr12:62940000-62949800	Weak transcription	Fetal Kidney	kidney
41	chr12:62940200-62949800	Weak transcription	Hela-S3	cervix
42	chr12:62940200-62951200	Strong transcription	Fetal Muscle Leg	muscle
43	chr12:62940400-62951400	Strong transcription	Primary B cells from cord blood	blood
44	chr12:62941800-62949800	Weak transcription	HUVEC	blood vessel
45	chr12:62942000-62949800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:62942000-62949800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:62942000-62949800	Weak transcription	Brain Germinal Matrix	brain
48	chr12:62942200-62949600	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:62942200-62950000	Weak transcription	HMEC	breast
50	chr12:62943200-62951400	Strong transcription	Primary T cells from cord blood	blood

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