Variant report

Variant	rs59194948
Chromosome Location	chr12:50979175-50979176
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50895961..50900171-chr12:50976654..50979754,4	MCF-7	breast:
2	chr12:50973996..50977053-chr12:50977194..50979673,3	MCF-7	breast:
3	chr12:50977912..50980011-chr12:50981947..50983773,4	K562	blood:
4	chr12:50977211..50979988-chr12:50984620..50986516,3	MCF-7	breast:
5	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:
6	chr12:50974915..50976857-chr12:50978600..50980892,2	K562	blood:
7	chr12:50960547..50963212-chr12:50977507..50979558,2	K562	blood:
8	chr12:50975357..50978309-chr12:50978600..50980737,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10506293	0.90[EUR][1000 genomes]
rs10506296	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10735826	0.92[ASN][1000 genomes]
rs10783367	0.88[ASN][1000 genomes]
rs10783368	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876041	0.90[ASN][1000 genomes]
rs10876044	0.90[ASN][1000 genomes]
rs10876048	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876054	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876057	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876082	0.86[EUR][1000 genomes]
rs10876083	0.86[EUR][1000 genomes]
rs10876088	0.86[EUR][1000 genomes]
rs11169422	0.90[EUR][1000 genomes]
rs11169553	0.86[EUR][1000 genomes]
rs11614911	0.90[ASN][1000 genomes]
rs12099511	0.90[EUR][1000 genomes]
rs12099615	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12296379	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307602	0.90[EUR][1000 genomes]
rs12320201	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817256	0.86[ASN][1000 genomes]
rs13328926	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1402693	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1521515	0.86[EUR][1000 genomes]
rs1521517	0.95[EUR][1000 genomes]
rs17119774	0.90[EUR][1000 genomes]
rs17124672	0.90[EUR][1000 genomes]
rs17124888	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17124907	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1815010	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1996750	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246840	0.86[EUR][1000 genomes]
rs2252595	0.91[EUR][1000 genomes]
rs2684886	0.86[EUR][1000 genomes]
rs2684890	0.86[EUR][1000 genomes]
rs2684891	0.86[EUR][1000 genomes]
rs2684902	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2684906	0.95[EUR][1000 genomes]
rs2700486	0.86[EUR][1000 genomes]
rs28414775	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28479152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2947617	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3803181	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3825401	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4129355	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4132432	0.82[AMR][1000 genomes]
rs4143663	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4257057	0.90[EUR][1000 genomes]
rs4306347	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4450234	0.90[EUR][1000 genomes]
rs4517607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4562889	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768848	0.83[ASN][1000 genomes]
rs4768885	0.90[ASN][1000 genomes]
rs4768886	0.90[ASN][1000 genomes]
rs4768887	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768894	0.91[ASN][1000 genomes]
rs4768915	0.86[EUR][1000 genomes]
rs4768920	0.86[EUR][1000 genomes]
rs56671180	0.90[EUR][1000 genomes]
rs56753963	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56818625	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57283487	0.90[EUR][1000 genomes]
rs57293958	0.90[EUR][1000 genomes]
rs57328764	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57512759	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57578212	0.90[EUR][1000 genomes]
rs57811009	0.90[EUR][1000 genomes]
rs57828015	0.90[EUR][1000 genomes]
rs58301497	0.84[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	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59284993	0.90[EUR][1000 genomes]
rs59683461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60242613	0.90[EUR][1000 genomes]
rs60396677	0.90[EUR][1000 genomes]
rs60420087	0.90[EUR][1000 genomes]
rs60494920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60743903	0.90[EUR][1000 genomes]
rs60908906	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61578731	0.90[EUR][1000 genomes]
rs6580766	0.86[EUR][1000 genomes]
rs6580767	0.86[EUR][1000 genomes]
rs6580768	0.86[EUR][1000 genomes]
rs7131993	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7132443	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7135222	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301125	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302749	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7303202	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7304262	0.90[EUR][1000 genomes]
rs7306387	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7310507	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7487645	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953880	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7955176	0.90[EUR][1000 genomes]
rs7955310	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7957060	0.85[ASN][1000 genomes]
rs7969251	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7974480	0.90[EUR][1000 genomes]
rs7978443	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7979184	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7979474	0.86[EUR][1000 genomes]
rs865490	0.81[EUR][1000 genomes]
rs939631	0.86[EUR][1000 genomes]
rs951591	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9634264	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9738596	0.93[ASN][1000 genomes]
rs9804759	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv558850	chr12:50973897-50983771	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:50967200-50983000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
5	chr12:50968600-50983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:50968800-50982200	Weak transcription	Fetal Brain Female	brain
7	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:50969400-50983400	Weak transcription	NHLF	lung
12	chr12:50969600-50981000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:50969600-50983400	Weak transcription	HSMMtube	muscle
14	chr12:50969600-50983600	Weak transcription	Adipose Nuclei	Adipose
15	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:50969800-50982000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:50973400-50983200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:50973800-50980200	Weak transcription	Fetal Brain Male	brain
20	chr12:50973800-50983200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:50973800-50983200	Weak transcription	HUVEC	blood vessel
22	chr12:50974000-50981000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:50974000-50981000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:50974600-50980000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:50974600-50984000	Weak transcription	Psoas Muscle	Psoas
27	chr12:50975600-50979200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:50975600-50979200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:50975600-50979200	Weak transcription	Right Atrium	heart
30	chr12:50975600-50979400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:50975600-50979400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:50975600-50982200	Weak transcription	Brain Germinal Matrix	brain
33	chr12:50975600-50983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:50975600-50983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:50975600-50991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:50975800-50979200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:50975800-50979200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:50975800-50983200	Weak transcription	HMEC	breast
39	chr12:50975800-50983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:50975800-50989400	Weak transcription	HepG2	liver
41	chr12:50975800-50990200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:50975800-50991400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:50976000-50983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:50976000-50983200	Weak transcription	Osteobl	bone
45	chr12:50976000-50983400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:50976000-50993400	Weak transcription	Fetal Lung	lung
47	chr12:50976200-50979200	Weak transcription	Lung	lung
48	chr12:50976200-50983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:50976200-50991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:50976600-50979200	Weak transcription	NHEK	skin

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