Variant report

Variant	rs72907266
Chromosome Location	chr18:44675746-44675747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44673432..44675834-chr18:44691617..44693277,2	MCF-7	breast:
2	chr18:44675372..44679287-chr18:44700113..44704114,10	MCF-7	breast:
3	chr18:44660900..44663835-chr18:44675479..44677959,3	MCF-7	breast:
4	chr18:44656520..44659372-chr18:44673623..44675752,2	K562	blood:
5	chr18:44663118..44666144-chr18:44673724..44676472,4	K562	blood:

Variant related genes	Relation type
ENSG00000267228	Chromatin interaction
ENSG00000134049	Chromatin interaction
ENSG00000267800	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11872350	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873174	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874348	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875258	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11876118	1.00[AMR][1000 genomes];0.93[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];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878050	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55717985	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55823165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890037	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56055727	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56090313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66875245	1.00[ASN][1000 genomes]
rs67918319	1.00[ASN][1000 genomes]
rs72903209	0.81[EUR][1000 genomes]
rs72903212	0.80[AMR][1000 genomes]
rs72903231	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72903232	0.81[EUR][1000 genomes]
rs72903252	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903283	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903284	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903301	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905404	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905405	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905406	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905408	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905410	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905422	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905430	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72905433	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905469	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905471	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905478	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905489	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905490	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905500	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907205	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907208	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907211	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907215	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909234	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909287	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909295	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911209	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919256	0.80[AMR][1000 genomes]
rs72921363	0.81[EUR][1000 genomes]
rs72921366	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv909613	chr18:44644530-44690107	Enhancers Strong transcription Weak transcription Flanking Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44629200-44675800	Weak transcription	HUVEC	blood vessel
2	chr18:44632400-44675800	Weak transcription	Stomach Mucosa	stomach
3	chr18:44641600-44675800	Weak transcription	Lung	lung
4	chr18:44641800-44675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:44641800-44675800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:44647800-44675800	Weak transcription	Ovary	ovary
7	chr18:44661200-44675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr18:44661600-44675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:44662200-44675800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:44662800-44675800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:44662800-44675800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr18:44662800-44675800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr18:44662800-44675800	Weak transcription	Brain Anterior Caudate	brain
14	chr18:44662800-44675800	Weak transcription	Placenta	Placenta
15	chr18:44663400-44676000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr18:44663600-44675800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr18:44663600-44675800	Weak transcription	Esophagus	oesophagus
18	chr18:44663600-44675800	Weak transcription	Fetal Intestine Large	intestine
19	chr18:44663600-44675800	Weak transcription	Gastric	stomach
20	chr18:44663600-44675800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr18:44663600-44675800	Weak transcription	Spleen	Spleen
22	chr18:44663600-44675800	Weak transcription	HSMM	muscle
23	chr18:44663800-44675800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr18:44663800-44675800	Weak transcription	Fetal Kidney	kidney
25	chr18:44663800-44675800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr18:44664000-44675800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr18:44666200-44675800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:44671200-44675800	Weak transcription	Left Ventricle	heart
29	chr18:44671200-44675800	Weak transcription	Pancreas	Pancrea
30	chr18:44671600-44675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr18:44673000-44676000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr18:44673200-44675800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr18:44674000-44676000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr18:44674400-44676200	Enhancers	Small Intestine	intestine
35	chr18:44674600-44675800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr18:44674800-44675800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr18:44674800-44675800	Enhancers	Brain Substantia Nigra	brain
38	chr18:44674800-44676000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr18:44675000-44675800	Enhancers	Liver	Liver
40	chr18:44675000-44675800	Enhancers	Brain Hippocampus Middle	brain
41	chr18:44675000-44675800	Weak transcription	Psoas Muscle	Psoas
42	chr18:44675000-44676000	Weak transcription	Aorta	Aorta
43	chr18:44675000-44678000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr18:44675200-44675800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr18:44675200-44675800	Enhancers	Brain Cingulate Gyrus	brain
46	chr18:44675200-44675800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr18:44675200-44675800	Enhancers	Fetal Brain Male	brain
48	chr18:44675200-44675800	Enhancers	Fetal Heart	heart
49	chr18:44675200-44675800	Enhancers	Fetal Lung	lung
50	chr18:44675200-44675800	Enhancers	Sigmoid Colon	Sigmoid Colon

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