Variant report

Variant	rs1402693
Chromosome Location	chr12:51008359-51008360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50992844..50995799-chr12:51006499..51009259,2	K562	blood:
2	chr12:50981889..50983503-chr12:51007729..51009929,2	K562	blood:
3	chr12:51007083..51009997-chr12:51013240..51015413,4	MCF-7	breast:
4	chr12:50990408..50992631-chr12:51008278..51009960,2	K562	blood:
5	chr12:51007874..51011257-chr12:51018084..51021009,3	K562	blood:
6	chr12:51007470..51011222-chr12:51011716..51014523,4	K562	blood:
7	chr12:50896962..50902107-chr12:51006167..51010082,7	MCF-7	breast:
8	chr12:50963836..50966336-chr12:51007234..51009900,2	MCF-7	breast:
9	chr12:51007812..51010612-chr12:51033859..51035797,2	MCF-7	breast:
10	chr12:50930328..50933130-chr12:51007851..51010241,3	MCF-7	breast:
11	chr12:50988872..50990700-chr12:51006546..51009118,2	MCF-7	breast:
12	chr12:51007721..51011700-chr12:51012673..51015464,4	MCF-7	breast:
13	chr12:51008134..51009859-chr12:51011789..51014896,3	K562	blood:
14	chr12:50987041..50990767-chr12:51006413..51009565,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10506293	0.90[EUR][1000 genomes]
rs10506296	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10735826	0.84[ASN][1000 genomes]
rs10783366	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs10783367	0.80[ASN][1000 genomes]
rs10783368	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10783390	1.00[CEU][hapmap]
rs10876041	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10876044	0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10876048	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876054	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876057	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876082	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10876083	0.86[EUR][1000 genomes]
rs10876088	0.86[EUR][1000 genomes]
rs11169422	0.90[EUR][1000 genomes]
rs11169551	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11169553	0.86[EUR][1000 genomes]
rs11614911	0.82[ASN][1000 genomes]
rs12099511	0.90[EUR][1000 genomes]
rs12099615	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12296379	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307602	0.90[EUR][1000 genomes]
rs12320201	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13328926	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1521515	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs1521517	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17119774	0.90[EUR][1000 genomes]
rs17124672	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17124888	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17124907	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1815010	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1996750	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2246840	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs2252595	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2684886	0.86[EUR][1000 genomes]
rs2684890	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2684891	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2684902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2684906	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2700486	0.86[EUR][1000 genomes]
rs28414775	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28479152	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2947617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3803181	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3825401	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4129355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4132432	0.90[MEX][hapmap];0.90[AMR][1000 genomes]
rs4143663	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4257057	1.00[CEU][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs4306347	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4450234	0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs4517607	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4562889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768885	0.82[ASN][1000 genomes]
rs4768886	0.82[ASN][1000 genomes]
rs4768887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768894	0.81[ASN][1000 genomes]
rs4768915	0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4768920	0.86[EUR][1000 genomes]
rs56671180	0.90[EUR][1000 genomes]
rs56753963	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56818625	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57283487	0.90[EUR][1000 genomes]
rs57293958	0.90[EUR][1000 genomes]
rs57328764	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57512759	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57578212	0.90[EUR][1000 genomes]
rs57811009	0.90[EUR][1000 genomes]
rs57828015	0.90[EUR][1000 genomes]
rs58301497	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58500867	0.90[EUR][1000 genomes]
rs58869591	0.85[EUR][1000 genomes]
rs58888905	0.90[EUR][1000 genomes]
rs58915267	0.85[EUR][1000 genomes]
rs58916974	0.90[EUR][1000 genomes]
rs58943330	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59194948	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59284993	0.90[EUR][1000 genomes]
rs59683461	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59696942	0.90[EUR][1000 genomes]
rs59968707	0.90[EUR][1000 genomes]
rs60010359	0.90[EUR][1000 genomes]
rs60198651	0.90[EUR][1000 genomes]
rs60201334	0.90[EUR][1000 genomes]
rs60239257	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60242613	0.90[EUR][1000 genomes]
rs60396677	0.90[EUR][1000 genomes]
rs60420087	0.90[EUR][1000 genomes]
rs60494920	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60743903	0.90[EUR][1000 genomes]
rs60908906	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61578731	0.90[EUR][1000 genomes]
rs6580766	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6580767	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs6580768	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs6580770	1.00[CEU][hapmap]
rs7131993	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7132443	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7135222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7301125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302749	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7303202	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7304262	0.90[EUR][1000 genomes]
rs7306387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310507	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7487645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7953880	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7955176	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7955310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7959129	1.00[CEU][hapmap]
rs7969251	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7974480	0.90[EUR][1000 genomes]
rs7978443	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7979184	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979474	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs865490	0.81[EUR][1000 genomes]
rs939631	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs951591	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9634264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9738596	0.85[ASN][1000 genomes]
rs9804759	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
3	chr12:50991600-51009600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:50992400-51009200	Weak transcription	Fetal Thymus	thymus
6	chr12:50992400-51009600	Weak transcription	Thymus	Thymus
7	chr12:50992400-51015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:50993000-51013800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:50993000-51013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:50993600-51013400	Weak transcription	GM12878-XiMat	blood
11	chr12:50994400-51012400	Weak transcription	Primary T cells from cord blood	blood
12	chr12:50994600-51018600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:50997600-51013000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:50997600-51014200	Weak transcription	Spleen	Spleen
15	chr12:50998000-51012000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:50998600-51013000	Weak transcription	Gastric	stomach
17	chr12:51001000-51012000	Weak transcription	Fetal Intestine Large	intestine
18	chr12:51001400-51009400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:51001400-51012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:51003600-51013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:51003600-51015400	Enhancers	Brain Hippocampus Middle	brain
22	chr12:51004600-51009000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:51005000-51010800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr12:51005000-51010800	Enhancers	Brain Substantia Nigra	brain
25	chr12:51005000-51013600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:51005200-51008600	Enhancers	Left Ventricle	heart
27	chr12:51005400-51008400	Enhancers	Right Atrium	heart
28	chr12:51005400-51008800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:51005600-51009800	Enhancers	Placenta	Placenta
30	chr12:51005600-51013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:51005600-51013800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:51005800-51011200	Enhancers	Fetal Brain Male	brain
33	chr12:51005800-51013800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:51006000-51014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:51006000-51014200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:51006200-51012800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:51006200-51012800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:51006200-51014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:51006400-51008800	Enhancers	Brain Germinal Matrix	brain
40	chr12:51006400-51010000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:51006400-51010000	Enhancers	HepG2	liver
42	chr12:51006400-51010000	Enhancers	K562	blood
43	chr12:51006400-51010600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:51006400-51010600	Enhancers	Fetal Brain Female	brain
45	chr12:51006400-51010600	Enhancers	Fetal Heart	heart
46	chr12:51006600-51008600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:51006600-51008600	Enhancers	Esophagus	oesophagus
48	chr12:51006600-51008600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr12:51006600-51008800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:51006600-51009000	Enhancers	Colon Smooth Muscle	Colon

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