Variant report

Variant	rs72907259
Chromosome Location	chr18:44674587-44674588
allele	A/G
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	chr18:44664428..44666267-chr18:44672303..44675573,3	K562	blood:
3	chr18:44656520..44659372-chr18:44673623..44675752,2	K562	blood:
4	chr18:44663118..44666144-chr18:44673724..44676472,4	K562	blood:

Variant related genes	Relation type
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]
rs72907266	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44620800-44675400	Weak transcription	A549	lung
2	chr18:44629200-44675800	Weak transcription	HUVEC	blood vessel
3	chr18:44632400-44675800	Weak transcription	Stomach Mucosa	stomach
4	chr18:44640600-44675600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:44641600-44675800	Weak transcription	Lung	lung
6	chr18:44641800-44675200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:44641800-44675400	Weak transcription	Fetal Intestine Small	intestine
8	chr18:44641800-44675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:44641800-44675800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr18:44642000-44675200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:44642200-44674600	Weak transcription	NHEK	skin
12	chr18:44647800-44675800	Weak transcription	Ovary	ovary
13	chr18:44656400-44675200	Weak transcription	Thymus	Thymus
14	chr18:44656800-44675000	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:44656800-44675200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr18:44661200-44675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:44661400-44674800	Weak transcription	Brain Substantia Nigra	brain
18	chr18:44661400-44675400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:44661400-44675600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr18:44661600-44674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr18:44661600-44675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:44661600-44675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:44662200-44675800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:44662600-44675200	Weak transcription	Hela-S3	cervix
25	chr18:44662800-44674800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr18:44662800-44674800	Weak transcription	Adipose Nuclei	Adipose
27	chr18:44662800-44675000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr18:44662800-44675200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:44662800-44675200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr18:44662800-44675400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr18:44662800-44675400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:44662800-44675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:44662800-44675400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr18:44662800-44675400	Weak transcription	HMEC	breast
35	chr18:44662800-44675400	Weak transcription	NHDF-Ad	bronchial
36	chr18:44662800-44675600	Weak transcription	Brain Angular Gyrus	brain
37	chr18:44662800-44675600	Weak transcription	Fetal Muscle Leg	muscle
38	chr18:44662800-44675600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr18:44662800-44675800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:44662800-44675800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr18:44662800-44675800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:44662800-44675800	Weak transcription	Brain Anterior Caudate	brain
43	chr18:44662800-44675800	Weak transcription	Placenta	Placenta
44	chr18:44663000-44675000	Weak transcription	GM12878-XiMat	blood
45	chr18:44663000-44675200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr18:44663000-44675200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr18:44663000-44675600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:44663200-44675600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr18:44663400-44674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr18:44663400-44675000	Weak transcription	Brain Hippocampus Middle	brain

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