Variant report

Variant	rs28412432
Chromosome Location	chr18:160754-160755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:141525..143923-chr18:160153..163099,2	K562	blood:
2	chr18:159584..161282-chr18:196677..199436,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28407306	1.00[AMR][1000 genomes]
rs28487881	1.00[AMR][1000 genomes]
rs28584739	1.00[AMR][1000 genomes]
rs28615531	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665633	1.00[AMR][1000 genomes]
rs28726224	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8086855	1.00[AMR][1000 genomes]
rs9944541	1.00[AMR][1000 genomes]
rs9945001	1.00[AMR][1000 genomes]
rs9946523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9947791	1.00[AMR][1000 genomes]
rs9951626	1.00[AMR][1000 genomes]
rs9965109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9965567	1.00[AMR][1000 genomes]
rs9967456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909285	chr18:10001-196829	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1059917	chr18:11543-175067	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1059509	chr18:11543-190140	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1064673	chr18:11543-249310	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1061730	chr18:11543-322183	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1059645	chr18:11543-326679	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv576227	chr18:52933-322183	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1064150	chr18:99036-321710	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1055303	chr18:112328-304352	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv543527	chr18:112328-304352	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv543530	chr18:112528-932674	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1067102	chr18:112528-984688	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv543531	chr18:112528-984688	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
14	nsv1066441	chr18:136228-249310	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv1057029	chr18:141491-356238	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv1066995	chr18:141491-415027	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	nsv1064735	chr18:141491-483651	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
18	nsv1062680	chr18:141491-549166	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	nsv1067218	chr18:141491-603796	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv543544	chr18:141491-675519	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
21	nsv1064998	chr18:141491-1095845	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
22	nsv543545	chr18:141491-1095845	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
23	nsv1057105	chr18:143546-235928	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
24	nsv531216	chr18:148763-293736	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
25	nsv532441	chr18:148763-1108997	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
26	nsv530373	chr18:148963-533693	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
27	esv3406270	chr18:151001-180091	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 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	chr18:158400-160800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:159400-160800	Flanking Active TSS	Dnd41	blood
3	chr18:159400-161200	Enhancers	Spleen	Spleen
4	chr18:159400-186000	Weak transcription	Aorta	Aorta
5	chr18:159600-161000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr18:159600-161200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr18:159600-161200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr18:159600-161400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr18:159600-161600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr18:159600-165000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:159600-166800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:159600-168400	Weak transcription	Lung	lung
13	chr18:159600-169800	Weak transcription	Esophagus	oesophagus
14	chr18:159600-170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:159600-199000	Weak transcription	Colonic Mucosa	Colon
16	chr18:159800-160800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr18:159800-160800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:159800-160800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr18:159800-160800	Enhancers	Fetal Heart	heart
20	chr18:159800-160800	Enhancers	Fetal Lung	lung
21	chr18:159800-160800	Enhancers	Rectal Smooth Muscle	rectum
22	chr18:159800-160800	Flanking Active TSS	GM12878-XiMat	blood
23	chr18:159800-161000	Enhancers	Brain Anterior Caudate	brain
24	chr18:159800-161000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:159800-161000	Enhancers	Brain Substantia Nigra	brain
26	chr18:159800-161200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:159800-161400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr18:159800-161400	Enhancers	Adipose Nuclei	Adipose
29	chr18:159800-161400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr18:159800-161400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr18:159800-161400	Enhancers	Fetal Brain Male	brain
32	chr18:159800-161600	Enhancers	Brain Cingulate Gyrus	brain
33	chr18:159800-162200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr18:159800-162200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr18:159800-163200	Weak transcription	HSMMtube	muscle
36	chr18:159800-163800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:159800-163800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr18:159800-164400	Weak transcription	Fetal Intestine Large	intestine
39	chr18:159800-164600	Weak transcription	Fetal Kidney	kidney
40	chr18:159800-165400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr18:159800-191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr18:159800-199200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr18:160000-160800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:160000-160800	Enhancers	Fetal Brain Female	brain
45	chr18:160000-161000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr18:160000-161000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr18:160000-161200	Weak transcription	Osteobl	bone
48	chr18:160000-161400	Enhancers	Liver	Liver
49	chr18:160000-162200	Enhancers	HUVEC	blood vessel
50	chr18:160000-163000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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