Variant report

Variant	rs10876048
Chromosome Location	chr12:50926203-50926204
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50909307..50911396-chr12:50923747..50926654,2	K562	blood:
2	chr12:50925303..50926862-chr12:51010690..51012401,2	MCF-7	breast:
3	chr12:50925309..50926923-chr12:51156739..51159439,3	K562	blood:
4	chr12:50925117..50926635-chr12:50967377..50969450,2	MCF-7	breast:
5	chr12:50924997..50928021-chr12:51009408..51011641,3	MCF-7	breast:
6	chr12:50919290..50923217-chr12:50923759..50928110,5	MCF-7	breast:
7	chr12:50899485..50901952-chr12:50925003..50926748,2	MCF-7	breast:
8	chr12:50924992..50927845-chr12:50972241..50975233,2	MCF-7	breast:
9	chr12:50925165..50930036-chr12:51011670..51016786,5	MCF-7	breast:
10	chr12:50925067..50926817-chr12:51027774..51030110,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506293	0.85[EUR][1000 genomes]
rs10506296	0.86[EUR][1000 genomes]
rs10735826	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10783367	0.92[ASN][1000 genomes]
rs10783368	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876041	0.94[ASN][1000 genomes]
rs10876044	0.93[ASN][1000 genomes]
rs10876054	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876057	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876082	0.90[EUR][1000 genomes]
rs10876083	0.90[EUR][1000 genomes]
rs10876085	0.82[EUR][1000 genomes]
rs10876088	0.90[EUR][1000 genomes]
rs11169422	0.85[EUR][1000 genomes]
rs11169553	0.90[EUR][1000 genomes]
rs11169556	0.82[EUR][1000 genomes]
rs11614911	0.94[ASN][1000 genomes]
rs12099511	0.85[EUR][1000 genomes]
rs12099615	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296379	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12307602	0.85[EUR][1000 genomes]
rs12320201	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817256	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13328926	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1402693	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1521515	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1521517	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119774	0.85[EUR][1000 genomes]
rs17124672	0.85[EUR][1000 genomes]
rs17124888	0.86[EUR][1000 genomes]
rs17124907	0.86[EUR][1000 genomes]
rs1815010	0.90[EUR][1000 genomes]
rs1996750	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2246840	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2252595	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2684886	0.90[EUR][1000 genomes]
rs2684890	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684891	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684902	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2684906	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700486	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28414775	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28479152	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2947617	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3803181	0.86[EUR][1000 genomes]
rs3825401	0.86[EUR][1000 genomes]
rs4129355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4143663	0.86[EUR][1000 genomes]
rs4257057	0.85[EUR][1000 genomes]
rs4306347	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4450234	0.85[EUR][1000 genomes]
rs4517607	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4562889	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768848	0.86[ASN][1000 genomes]
rs4768885	0.94[ASN][1000 genomes]
rs4768886	0.94[ASN][1000 genomes]
rs4768887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768894	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768909	0.82[EUR][1000 genomes]
rs4768915	0.90[EUR][1000 genomes]
rs4768920	0.90[EUR][1000 genomes]
rs56671180	0.85[EUR][1000 genomes]
rs56753963	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56818625	0.86[EUR][1000 genomes]
rs57283487	0.85[EUR][1000 genomes]
rs57293958	0.85[EUR][1000 genomes]
rs57328764	0.86[EUR][1000 genomes]
rs57512759	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57578212	0.85[EUR][1000 genomes]
rs57811009	0.85[EUR][1000 genomes]
rs57828015	0.85[EUR][1000 genomes]
rs58301497	0.86[EUR][1000 genomes]
rs58500867	0.85[EUR][1000 genomes]
rs58869591	0.81[EUR][1000 genomes]
rs58888905	0.85[EUR][1000 genomes]
rs58915267	0.81[EUR][1000 genomes]
rs58916974	0.85[EUR][1000 genomes]
rs58943330	0.95[EUR][1000 genomes]
rs59194948	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59284993	0.86[EUR][1000 genomes]
rs59683461	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59696942	0.85[EUR][1000 genomes]
rs59968707	0.85[EUR][1000 genomes]
rs60010359	0.85[EUR][1000 genomes]
rs60198651	0.85[EUR][1000 genomes]
rs60201334	0.85[EUR][1000 genomes]
rs60239257	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60242613	0.85[EUR][1000 genomes]
rs60396677	0.85[EUR][1000 genomes]
rs60420087	0.85[EUR][1000 genomes]
rs60494920	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60743903	0.85[EUR][1000 genomes]
rs60908906	0.95[EUR][1000 genomes]
rs61578731	0.85[EUR][1000 genomes]
rs6580766	0.90[EUR][1000 genomes]
rs6580767	0.90[EUR][1000 genomes]
rs6580768	0.90[EUR][1000 genomes]
rs7131993	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7132443	0.86[EUR][1000 genomes]
rs7135222	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7301125	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302749	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303202	0.90[EUR][1000 genomes]
rs7304262	0.85[EUR][1000 genomes]
rs7306387	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7310507	0.95[EUR][1000 genomes]
rs7487645	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953880	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7955176	0.85[EUR][1000 genomes]
rs7955310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957060	0.88[ASN][1000 genomes]
rs7974480	0.85[EUR][1000 genomes]
rs7978443	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7979184	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7979474	0.90[EUR][1000 genomes]
rs939631	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs951591	0.95[EUR][1000 genomes]
rs9634264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9738596	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9804759	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][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	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
2	chr12:50911400-50926400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50912000-50926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:50914800-50926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:50915600-50926400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:50916400-50931600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:50918600-50926400	Weak transcription	Fetal Lung	lung
9	chr12:50918800-50938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:50919000-50926600	Enhancers	Brain Substantia Nigra	brain
11	chr12:50920200-50926400	Weak transcription	Right Ventricle	heart
12	chr12:50920200-50939600	Weak transcription	Fetal Heart	heart
13	chr12:50920400-50927000	Weak transcription	Adipose Nuclei	Adipose
14	chr12:50920400-50931400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:50920800-50929200	Weak transcription	Fetal Stomach	stomach
16	chr12:50920800-50939400	Weak transcription	Fetal Brain Female	brain
17	chr12:50920800-50939800	Weak transcription	Fetal Brain Male	brain
18	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:50921000-50929200	Enhancers	Liver	Liver
20	chr12:50921000-50939400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:50921000-50940200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:50921200-50927200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:50921200-50939800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:50921400-50926400	Enhancers	HepG2	liver
25	chr12:50922800-50927600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:50923400-50926400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:50923400-50926400	Weak transcription	Brain Angular Gyrus	brain
28	chr12:50923400-50926400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:50923400-50926400	Weak transcription	HSMMtube	muscle
30	chr12:50923400-50939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:50923600-50926800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:50923600-50928600	Weak transcription	Ovary	ovary
33	chr12:50923600-50939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:50924000-50927800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:50924000-50929000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:50924200-50927000	Enhancers	HMEC	breast
37	chr12:50924200-50927400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:50924200-50929200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:50924400-50926400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:50924400-50931400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:50924600-50926400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:50924600-50928800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:50924600-50929200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:50924800-50926400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:50924800-50926400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:50925000-50928600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:50925000-50929000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:50925200-50926400	Enhancers	K562	blood
49	chr12:50925200-50927400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:50925200-50927400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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