Variant report

Variant	rs11886231
Chromosome Location	chr2:128028130-128028131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128027705..128030035-chr2:128032248..128034567,3	K562	blood:
2	chr2:127954775..127955774-chr2:128028067..128028796,3	MCF-7	breast:
3	chr2:128027989..128028584-chr2:128211038..128211648,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10209678	0.94[ASN][1000 genomes]
rs10803585	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10928761	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11890187	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11901355	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12052483	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12463451	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12465955	0.97[ASN][1000 genomes]
rs12477214	0.85[ASN][1000 genomes]
rs12479003	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12622436	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12623948	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12692064	0.94[ASN][1000 genomes]
rs12989081	0.86[ASN][1000 genomes]
rs12989154	0.88[ASN][1000 genomes]
rs12991062	0.81[ASN][1000 genomes]
rs12991768	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13029237	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1566823	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015199	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1850689	0.86[ASN][1000 genomes]
rs2090574	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2174270	0.97[ASN][1000 genomes]
rs2276583	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2896980	0.87[ASN][1000 genomes]
rs3088374	0.80[AMR][1000 genomes]
rs34832797	0.88[ASN][1000 genomes]
rs35293119	0.86[ASN][1000 genomes]
rs35328149	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3768866	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150407	0.97[ASN][1000 genomes]
rs4150441	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4150454	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150477	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233583	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4233584	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4497825	0.94[ASN][1000 genomes]
rs4662575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4662578	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4662580	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4662711	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4662712	0.83[ASN][1000 genomes]
rs4662717	0.98[ASN][1000 genomes]
rs4662722	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4662725	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55905117	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55998967	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58475809	0.94[ASN][1000 genomes]
rs59566504	0.89[ASN][1000 genomes]
rs62157549	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62157555	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62160261	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6430935	0.96[ASN][1000 genomes]
rs6712213	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6712446	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6712551	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6731176	0.92[ASN][1000 genomes]
rs6732279	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6761447	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71414745	0.89[ASN][1000 genomes]
rs7568261	0.88[ASN][1000 genomes]
rs7580658	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7589451	0.87[ASN][1000 genomes]
rs867304	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9636237	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9789510	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:128019000-128028200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:128019000-128028200	Weak transcription	NHLF	lung
6	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
7	chr2:128022200-128028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:128023200-128036200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:128023200-128041000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:128023400-128050400	Strong transcription	Liver	Liver
11	chr2:128023800-128039400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:128024000-128040800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:128024200-128032800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:128024200-128036200	Strong transcription	Placenta	Placenta
15	chr2:128024200-128036200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:128024200-128038200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:128024200-128040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
19	chr2:128024400-128032600	Strong transcription	HSMMtube	muscle
20	chr2:128024400-128036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:128024400-128038400	Strong transcription	Ovary	ovary
22	chr2:128024400-128040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:128024400-128041000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:128024400-128041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:128024400-128041000	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:128024400-128049600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:128024400-128049800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:128024400-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:128024400-128050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:128024400-128050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:128024400-128050200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:128024400-128050400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:128024400-128050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:128024400-128050400	Strong transcription	Thymus	Thymus
35	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
36	chr2:128024600-128031000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:128024600-128033600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:128024600-128033600	Strong transcription	Colon Smooth Muscle	Colon
39	chr2:128024600-128034000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:128024600-128036200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:128024600-128038200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:128024600-128038600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:128024600-128039800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:128024600-128040400	Strong transcription	NH-A	brain
45	chr2:128024600-128040800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:128024600-128040800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:128024600-128040800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:128024600-128041000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:128024600-128041000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:128024600-128041000	Strong transcription	Fetal Brain Female	brain

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