Variant report

Variant	rs56030315
Chromosome Location	chr18:44493498-44493499
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr18:44493112-44493972	HEK293-T-REx	kidney:	n/a	chr18:44493570-44493591 chr18:44493558-44493567

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44491476..44494532-chr18:44496207..44498289,3	MCF-7	breast:
2	chr18:44492204..44495512-chr18:44495791..44498945,4	MCF-7	breast:

Variant related genes	Relation type
KATNAL2	TF binding region
ENSG00000078043	Chromatin interaction
ENSG00000167216	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11872317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872376	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872476	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874300	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	0.81[AMR][1000 genomes]
rs11875032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875655	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11875703	0.91[AFR][1000 genomes]
rs11875918	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876274	0.91[AFR][1000 genomes]
rs11876752	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	0.91[AFR][1000 genomes]
rs11877429	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877540	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877650	0.82[AFR][1000 genomes]
rs11877721	0.91[AFR][1000 genomes]
rs11878114	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36129965	1.00[ASN][1000 genomes]
rs3893054	1.00[ASN][1000 genomes]
rs55664322	0.91[AFR][1000 genomes]
rs55752024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	0.91[AFR][1000 genomes]
rs55890037	1.00[ASN][1000 genomes]
rs56055727	1.00[ASN][1000 genomes]
rs56068993	1.00[ASN][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs56333835	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388142	1.00[ASN][1000 genomes]
rs56400973	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229231	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903209	1.00[ASN][1000 genomes]
rs72903212	1.00[ASN][1000 genomes]
rs72903231	1.00[ASN][1000 genomes]
rs72903232	1.00[ASN][1000 genomes]
rs72903376	1.00[ASN][1000 genomes]
rs72903390	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903401	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905209	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905251	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905265	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	0.91[AFR][1000 genomes]
rs72907114	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907128	0.91[AFR][1000 genomes]
rs72907130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907154	1.00[ASN][1000 genomes]
rs72907155	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909189	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	0.91[AFR][1000 genomes]
rs72909195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909201	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911104	0.91[AFR][1000 genomes]
rs72911106	0.91[AFR][1000 genomes]
rs72911111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913063	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	0.91[AFR][1000 genomes]
rs72915084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917125	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919298	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921352	1.00[ASN][1000 genomes]
rs72921363	1.00[ASN][1000 genomes]
rs72921366	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44469800-44493600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:44469800-44493800	Weak transcription	Lung	lung
3	chr18:44469800-44494600	Weak transcription	Fetal Brain Male	brain
4	chr18:44469800-44495200	Weak transcription	Hela-S3	cervix
5	chr18:44469800-44495400	Weak transcription	Brain Anterior Caudate	brain
6	chr18:44469800-44496000	Weak transcription	HSMMtube	muscle
7	chr18:44469800-44496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr18:44470600-44495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:44470800-44495200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr18:44470800-44495600	Weak transcription	Thymus	Thymus
11	chr18:44470800-44495800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:44470800-44495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:44470800-44495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:44471000-44495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:44471000-44495400	Weak transcription	Fetal Thymus	thymus
16	chr18:44471000-44495600	Weak transcription	HUVEC	blood vessel
17	chr18:44471000-44495800	Weak transcription	HSMM	muscle
18	chr18:44471200-44495400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:44471200-44495400	Weak transcription	Primary B cells from cord blood	blood
20	chr18:44472200-44493800	Weak transcription	Left Ventricle	heart
21	chr18:44474400-44493600	Weak transcription	HepG2	liver
22	chr18:44475600-44494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:44482400-44495200	Weak transcription	Primary T cells from cord blood	blood
24	chr18:44483600-44495400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:44484000-44495400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr18:44484000-44495800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr18:44486800-44493600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr18:44487200-44494600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:44487400-44496000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:44487600-44495200	Weak transcription	Fetal Lung	lung
31	chr18:44487800-44493600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr18:44487800-44493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:44487800-44493800	Weak transcription	Psoas Muscle	Psoas
34	chr18:44488000-44495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:44488000-44495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:44488000-44495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr18:44488200-44494800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr18:44488400-44495200	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:44488600-44495200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr18:44489600-44493600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:44489600-44493600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr18:44489600-44493600	Weak transcription	Brain Germinal Matrix	brain
43	chr18:44489600-44493800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:44489600-44495400	Weak transcription	Fetal Stomach	stomach
45	chr18:44490000-44495200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:44490800-44495400	Weak transcription	Fetal Intestine Small	intestine
47	chr18:44492000-44495400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr18:44492200-44496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:44492400-44493800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr18:44493000-44494600	Enhancers	Dnd41	blood

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