Variant report

Variant	rs72905433
Chromosome Location	chr18:44630576-44630577
allele	A/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	POLR2A	chr18:44623605-44630856	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000267724	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11872350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872528	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875258	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11876118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876495	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11877963	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55717985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55823165	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890037	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56055727	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56090313	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388142	0.82[EUR][1000 genomes]
rs66875245	1.00[ASN][1000 genomes]
rs67918319	1.00[ASN][1000 genomes]
rs72903209	0.87[EUR][1000 genomes]
rs72903212	0.80[AMR][1000 genomes]
rs72903231	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72903232	0.87[EUR][1000 genomes]
rs72903252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905422	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907226	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907232	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907238	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907248	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907250	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907257	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907259	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907266	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907271	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907274	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907278	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909213	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909219	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909232	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909234	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909287	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909295	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911209	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919256	0.80[AMR][1000 genomes]
rs72921363	0.87[EUR][1000 genomes]
rs72921366	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv576819	chr18:44602249-44677627	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44587200-44630600	Weak transcription	Brain Anterior Caudate	brain
2	chr18:44604000-44630600	Weak transcription	Brain Angular Gyrus	brain
3	chr18:44604800-44630800	Weak transcription	Brain Hippocampus Middle	brain
4	chr18:44607600-44637600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr18:44609200-44638400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr18:44611000-44633000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:44611400-44633000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr18:44611600-44630600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:44611600-44635600	Weak transcription	Psoas Muscle	Psoas
10	chr18:44612600-44632600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr18:44613800-44638200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:44615600-44631000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr18:44617200-44635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:44619400-44630800	Weak transcription	HSMM	muscle
15	chr18:44620000-44630600	Weak transcription	Spleen	Spleen
16	chr18:44620600-44635000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:44620800-44675400	Weak transcription	A549	lung
18	chr18:44621000-44630800	Weak transcription	Thymus	Thymus
19	chr18:44621200-44631000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:44621200-44634800	Weak transcription	Pancreas	Pancrea
21	chr18:44621400-44630600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr18:44621400-44638600	Weak transcription	Colonic Mucosa	Colon
23	chr18:44621600-44674400	Weak transcription	Small Intestine	intestine
24	chr18:44622000-44633200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:44622400-44632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:44622400-44632400	Weak transcription	Brain Substantia Nigra	brain
27	chr18:44622400-44633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:44622600-44630600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:44623000-44630600	Weak transcription	Left Ventricle	heart
30	chr18:44623000-44637400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:44623200-44635200	Weak transcription	HepG2	liver
32	chr18:44623800-44635000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr18:44624200-44634800	Weak transcription	Gastric	stomach
34	chr18:44624200-44654200	Weak transcription	Fetal Heart	heart
35	chr18:44624400-44632000	Weak transcription	Fetal Stomach	stomach
36	chr18:44624400-44637400	Weak transcription	HMEC	breast
37	chr18:44624400-44640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:44624600-44635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr18:44625800-44632000	Weak transcription	Aorta	Aorta
40	chr18:44626600-44664800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr18:44626800-44630600	Weak transcription	Ovary	ovary
42	chr18:44626800-44632000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:44626800-44632600	Weak transcription	NH-A	brain
44	chr18:44626800-44633000	Weak transcription	Placenta	Placenta
45	chr18:44626800-44634600	Weak transcription	NHEK	skin
46	chr18:44626800-44637400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr18:44627000-44630600	Weak transcription	Fetal Kidney	kidney
48	chr18:44627000-44630800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr18:44627000-44632600	Weak transcription	Fetal Brain Female	brain
50	chr18:44627000-44633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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