Variant report

Variant	rs10783362
Chromosome Location	chr12:50856613-50856614
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50855792..50857540-chr12:50858968..50861259,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10506293	0.80[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10735825	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10747580	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10747581	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876030	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876034	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169408	0.83[ASN][1000 genomes]
rs11169422	0.95[ASN][1000 genomes]
rs11169427	0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169440	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11610442	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12099511	0.88[ASN][1000 genomes]
rs12307602	0.88[ASN][1000 genomes]
rs12578525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824882	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17119774	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs17119778	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17124672	0.86[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs17531020	0.84[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4238104	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4257057	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4298982	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4351895	1.00[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450234	0.91[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4768877	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768878	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768880	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768928	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768936	0.89[ASN][1000 genomes]
rs56671180	0.95[ASN][1000 genomes]
rs56989201	0.81[ASN][1000 genomes]
rs57283487	0.90[ASN][1000 genomes]
rs57293958	0.95[ASN][1000 genomes]
rs57578212	0.81[ASN][1000 genomes]
rs57811009	0.86[ASN][1000 genomes]
rs57828015	0.95[ASN][1000 genomes]
rs58500867	0.88[ASN][1000 genomes]
rs58869591	0.86[ASN][1000 genomes]
rs58888905	0.88[ASN][1000 genomes]
rs58916974	0.89[ASN][1000 genomes]
rs59696942	0.96[ASN][1000 genomes]
rs59968707	0.96[ASN][1000 genomes]
rs60010359	0.88[ASN][1000 genomes]
rs60198651	0.94[ASN][1000 genomes]
rs60201334	0.95[ASN][1000 genomes]
rs60242613	0.95[ASN][1000 genomes]
rs60420087	0.87[ASN][1000 genomes]
rs60610745	0.85[ASN][1000 genomes]
rs60743903	0.96[ASN][1000 genomes]
rs61578731	0.96[ASN][1000 genomes]
rs6580753	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7133488	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7135159	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7138063	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7295610	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7295698	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7296212	1.00[ASW][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7299321	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304017	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304262	0.93[ASN][1000 genomes]
rs7310094	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7955176	0.91[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs7957033	0.93[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965165	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7974480	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7978625	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];0.92[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	esv1820779	chr12:50835060-50858820	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:50821600-50856800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:50821600-50863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:50825800-50873000	Strong transcription	Liver	Liver
12	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
13	chr12:50828000-50867200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:50828800-50857400	Weak transcription	Gastric	stomach
15	chr12:50830000-50856800	Weak transcription	Spleen	Spleen
16	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:50833000-50856800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:50836000-50857800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:50836400-50856800	Weak transcription	Fetal Kidney	kidney
22	chr12:50836400-50866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:50836600-50870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:50836800-50867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:50837200-50856800	Weak transcription	Brain Angular Gyrus	brain
26	chr12:50837200-50862600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:50839000-50869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:50839200-50856800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:50839200-50857000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:50839200-50857400	Weak transcription	Colonic Mucosa	Colon
31	chr12:50839600-50859200	Weak transcription	HSMMtube	muscle
32	chr12:50840400-50857200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:50840800-50858600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:50841200-50860800	Weak transcription	Brain Substantia Nigra	brain
35	chr12:50843000-50861200	Weak transcription	Pancreas	Pancrea
36	chr12:50844400-50872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:50846200-50873000	Strong transcription	Adipose Nuclei	Adipose
38	chr12:50846400-50857400	Strong transcription	A549	lung
39	chr12:50846800-50872000	Weak transcription	Fetal Heart	heart
40	chr12:50847000-50865400	Weak transcription	NHLF	lung
41	chr12:50848400-50858400	Strong transcription	Fetal Stomach	stomach
42	chr12:50848600-50858400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:50849000-50858800	Strong transcription	Fetal Intestine Small	intestine
44	chr12:50849200-50878000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:50849600-50859200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:50849800-50857400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:50850000-50856800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:50850000-50856800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:50850000-50856800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:50850000-50857200	Weak transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links