Variant report

Variant	rs60444886
Chromosome Location	chr18:13017462-13017463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13009187..13011605-chr18:13016095..13017651,2	MCF-7	breast:
2	chr18:12989262..12993018-chr18:13015228..13019059,4	K562	blood:
3	chr18:13016492..13018767-chr18:13034776..13036478,2	K562	blood:

Variant related genes	Relation type
ENSG00000101639	Chromatin interaction
ENSG00000266969	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs11080624	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11080626	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11080627	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11080628	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11660634	0.89[EUR][1000 genomes]
rs11660908	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11661163	0.89[EUR][1000 genomes]
rs11661802	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11662528	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11663369	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11663399	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11663455	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11663521	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11663778	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11664958	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11665378	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12604624	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12606033	0.95[ASN][1000 genomes]
rs12607152	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12607203	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12607323	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12607329	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12607661	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12607682	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2282542	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3602	0.92[EUR][1000 genomes]
rs3786160	0.91[ASN][1000 genomes]
rs3786162	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3786163	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3786164	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3809907	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3809908	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56913743	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57292913	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57448401	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58322002	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58343237	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58554306	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58558999	0.89[ASN][1000 genomes]
rs58820551	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59278606	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59557962	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59962936	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60015020	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60281669	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60669993	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60685477	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60710487	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60827697	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60989271	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61364693	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62095829	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66466160	0.87[EUR][1000 genomes]
rs66494849	0.89[ASN][1000 genomes]
rs6650609	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6650616	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6650617	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66559751	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66661616	0.84[EUR][1000 genomes]
rs66685204	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs66688868	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66929859	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66935882	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67068160	0.92[EUR][1000 genomes]
rs67084247	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67258461	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67334724	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67357574	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67415465	0.92[EUR][1000 genomes]
rs67432911	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67538562	0.92[EUR][1000 genomes]
rs67565680	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67640584	0.92[EUR][1000 genomes]
rs67675517	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67765196	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67838921	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67863818	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67868710	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67955156	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67996007	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68051414	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68169869	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7228940	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7233578	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7236987	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7243276	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7243536	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7243597	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72636758	0.87[EUR][1000 genomes]
rs72636759	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72636760	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72636761	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8084728	0.90[ASN][1000 genomes]
rs8088543	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8091992	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8092992	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8093363	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8093650	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8094351	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9952452	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh 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	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
4	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:12998400-13041600	Strong transcription	Dnd41	blood
6	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
7	chr18:12999400-13020800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr18:12999400-13021800	Strong transcription	Primary T cells from cord blood	blood
9	chr18:12999600-13018800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:13002800-13021200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr18:13004600-13018200	Strong transcription	GM12878-XiMat	blood
13	chr18:13004800-13024200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr18:13004800-13031800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr18:13005000-13039200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr18:13005400-13018600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:13005400-13018600	Strong transcription	Fetal Intestine Large	intestine
18	chr18:13005400-13033400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:13006400-13034400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr18:13006600-13018000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr18:13007600-13018000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr18:13007800-13021000	Strong transcription	Liver	Liver
24	chr18:13007800-13022400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr18:13008000-13019200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr18:13008000-13022000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr18:13008000-13025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:13008200-13021200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:13008400-13017600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:13008400-13018200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr18:13008400-13020400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr18:13008400-13020800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:13008400-13020800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr18:13008400-13020800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr18:13008400-13021000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:13008400-13021000	Strong transcription	Adipose Nuclei	Adipose
38	chr18:13008400-13021800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr18:13008400-13022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr18:13008600-13018600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr18:13008600-13019000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:13008600-13019000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:13008600-13020600	Strong transcription	Brain Anterior Caudate	brain
45	chr18:13008600-13022600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:13011200-13021200	Strong transcription	Fetal Muscle Leg	muscle
47	chr18:13011200-13022000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:13011400-13018000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:13011400-13019400	Strong transcription	Fetal Lung	lung
50	chr18:13011400-13021800	Strong transcription	K562	blood

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