Variant report

Variant	rs67565680
Chromosome Location	chr18:12996535-12996536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12996489..12998450-chr18:12998497..13000010,2	K562	blood:
2	chr18:12989490..12992525-chr18:12992706..12997077,5	MCF-7	breast:
3	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
4	chr18:12995796..12999639-chr18:13011054..13013784,3	K562	blood:

Variant related genes	Relation type
ENSG00000085415	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000266969	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11080624	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11080626	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11080627	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11080628	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11660634	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11660908	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11661163	0.84[EUR][1000 genomes]
rs11661802	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11662528	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11663369	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11663399	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11663455	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11663521	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11663778	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11664958	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11665378	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12604624	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12606033	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12607152	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12607203	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12607323	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12607329	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12607661	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12607682	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2282542	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3602	0.92[EUR][1000 genomes]
rs3786160	0.89[ASN][1000 genomes]
rs3786162	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3786163	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3786164	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3809907	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3809908	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56913743	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57292913	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57448401	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58322002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58343237	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58554306	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58558999	0.88[ASN][1000 genomes]
rs58820551	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59278606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59557962	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59962936	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60015020	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60281669	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60444886	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60669993	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60685477	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60710487	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60827697	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60945352	0.81[AMR][1000 genomes]
rs60989271	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61364693	0.95[ASN][1000 genomes]
rs62095829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66466160	0.82[EUR][1000 genomes]
rs66494849	0.87[ASN][1000 genomes]
rs6650609	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6650616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6650617	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66559751	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66661616	0.84[EUR][1000 genomes]
rs66685204	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66688868	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs66929859	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66935882	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67068160	0.92[EUR][1000 genomes]
rs67084247	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs67258461	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67334724	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67357574	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67415465	0.92[EUR][1000 genomes]
rs67432911	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67538562	0.92[EUR][1000 genomes]
rs67640584	0.92[EUR][1000 genomes]
rs67675517	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67765196	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67838921	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67863818	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs67868710	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67955156	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67996007	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68051414	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68169869	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7228940	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7233578	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7236987	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7243276	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7243536	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7243597	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72636758	0.87[EUR][1000 genomes]
rs72636759	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72636760	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72636761	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8084728	0.89[ASN][1000 genomes]
rs8088543	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8091992	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8092992	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8093363	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8093650	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8094351	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9952452	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[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	chr18:12992000-13000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:12992000-13004400	Weak transcription	Esophagus	oesophagus
3	chr18:12992200-13004800	Weak transcription	Aorta	Aorta
4	chr18:12992400-13000400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:12992400-13000600	Weak transcription	Placenta	Placenta
6	chr18:12992400-13004400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:12992600-13000400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:12992800-12997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:12992800-13004000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr18:12992800-13008800	Weak transcription	Colonic Mucosa	Colon
12	chr18:12992800-13009200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr18:12992800-13013200	Weak transcription	Fetal Kidney	kidney
14	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:12993000-12997000	Enhancers	HepG2	liver
16	chr18:12993000-13001400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr18:12993000-13006400	Weak transcription	Fetal Brain Female	brain
18	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr18:12993200-13000200	Weak transcription	HSMM	muscle
20	chr18:12993200-13000400	Weak transcription	Adipose Nuclei	Adipose
21	chr18:12993200-13001000	Weak transcription	Fetal Intestine Large	intestine
22	chr18:12993200-13001200	Weak transcription	A549	lung
23	chr18:12993200-13004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:12993200-13004800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr18:12993200-13006800	Weak transcription	HSMMtube	muscle
26	chr18:12993200-13007000	Weak transcription	Brain Substantia Nigra	brain
27	chr18:12993200-13008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:12993200-13008400	Weak transcription	Osteobl	bone
29	chr18:12993200-13008800	Weak transcription	NHLF	lung
30	chr18:12993400-12998200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:12993400-12998400	Weak transcription	Fetal Lung	lung
32	chr18:12993400-12999400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr18:12993400-12999400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr18:12993400-12999600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:12993400-13000200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:12993400-13000200	Weak transcription	Liver	Liver
37	chr18:12993400-13000200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr18:12993400-13000200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr18:12993400-13000600	Weak transcription	Fetal Stomach	stomach
40	chr18:12993400-13000800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:12993400-13003000	Weak transcription	Fetal Muscle Leg	muscle
42	chr18:12993400-13003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:12993400-13006200	Weak transcription	NH-A	brain
44	chr18:12993400-13006600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:12993400-13008200	Weak transcription	Brain Angular Gyrus	brain
46	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
47	chr18:12993600-13000200	Weak transcription	Primary B cells from cord blood	blood
48	chr18:12993600-13000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:12993600-13000400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:12993600-13000400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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