Variant report

Variant	rs73956267
Chromosome Location	chr18:43804544-43804545
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43752425..43753936-chr18:43803858..43805717,2	K562	blood:
2	chr18:43800168..43802045-chr18:43803617..43805838,2	K562	blood:
3	chr18:43752637..43754966-chr18:43802774..43805667,3	MCF-7	breast:
4	chr18:43799735..43802045-chr18:43803265..43805117,3	K562	blood:
5	chr18:43751109..43753936-chr18:43803032..43805358,3	K562	blood:
6	chr18:43753635..43755873-chr18:43803483..43806227,2	MCF-7	breast:
7	chr18:43793217..43797206-chr18:43801637..43804775,4	K562	blood:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs55740138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55759370	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55767951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880870	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55900453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56044366	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082923	1.00[AFR][1000 genomes]
rs56236809	0.94[AFR][1000 genomes]
rs56656421	1.00[EUR][1000 genomes]
rs56912043	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57502921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57693291	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57803441	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58398659	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58725857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58899840	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58961089	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59033182	1.00[AFR][1000 genomes]
rs59182447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59910849	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60077572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60100844	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114246	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60336955	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60781524	1.00[AMR][1000 genomes]
rs60921328	1.00[AFR][1000 genomes]
rs7226417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237569	1.00[EUR][1000 genomes]
rs7239657	1.00[EUR][1000 genomes]
rs7240916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7241791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73425190	1.00[EUR][1000 genomes]
rs73956204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956231	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956234	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956249	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956258	1.00[AFR][1000 genomes]
rs73956259	1.00[AFR][1000 genomes]
rs73956260	1.00[AFR][1000 genomes]
rs73956261	1.00[AFR][1000 genomes]
rs73956262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956263	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73956264	0.94[AFR][1000 genomes]
rs73956265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956268	1.00[AFR][1000 genomes]
rs73956269	1.00[AFR][1000 genomes]
rs73956270	1.00[AFR][1000 genomes]
rs73956271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956272	1.00[AFR][1000 genomes]
rs73956273	1.00[AFR][1000 genomes]
rs73956274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956276	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956281	0.94[AFR][1000 genomes]
rs73956284	0.94[AFR][1000 genomes]
rs73956287	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8083843	1.00[EUR][1000 genomes]
rs8088778	1.00[EUR][1000 genomes]
rs8096742	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43777000-43812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:43777800-43805000	Weak transcription	Fetal Intestine Small	intestine
3	chr18:43792200-43814600	Weak transcription	Colon Smooth Muscle	Colon
4	chr18:43794800-43815000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:43796400-43806400	Weak transcription	Small Intestine	intestine
6	chr18:43796600-43804800	Weak transcription	Gastric	stomach
7	chr18:43796600-43804800	Weak transcription	Left Ventricle	heart
8	chr18:43796600-43809600	Weak transcription	Aorta	Aorta
9	chr18:43796600-43809600	Weak transcription	Esophagus	oesophagus
10	chr18:43796600-43809600	Weak transcription	Lung	lung
11	chr18:43796600-43809600	Weak transcription	Spleen	Spleen
12	chr18:43796600-43814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr18:43796600-43815200	Weak transcription	Pancreas	Pancrea
14	chr18:43796600-43820000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:43796600-43827600	Weak transcription	Fetal Muscle Leg	muscle
16	chr18:43796800-43804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:43796800-43804800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr18:43796800-43814800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:43797000-43804800	Weak transcription	Fetal Intestine Large	intestine
20	chr18:43797000-43804800	Weak transcription	Placenta	Placenta
21	chr18:43797000-43806200	Weak transcription	Liver	Liver
22	chr18:43797000-43814800	Weak transcription	Fetal Brain Female	brain
23	chr18:43797000-43820000	Weak transcription	Ovary	ovary
24	chr18:43797000-43833400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:43797400-43829600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr18:43798800-43833800	Weak transcription	HepG2	liver
27	chr18:43799000-43804800	Weak transcription	Fetal Thymus	thymus
28	chr18:43799000-43805000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr18:43799000-43814600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr18:43799000-43834000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:43799200-43804600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr18:43799200-43806200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:43800200-43806200	Weak transcription	NHLF	lung
34	chr18:43800400-43810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:43800400-43814400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:43800400-43814600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:43800600-43806400	Weak transcription	HSMMtube	muscle
38	chr18:43800800-43829000	Weak transcription	HSMM	muscle
39	chr18:43801000-43804600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr18:43801000-43805200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr18:43801000-43806000	Weak transcription	NHDF-Ad	bronchial
42	chr18:43801200-43804800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:43801200-43804800	Weak transcription	Fetal Stomach	stomach
44	chr18:43801200-43807000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr18:43801200-43829600	Weak transcription	Thymus	Thymus
46	chr18:43801400-43804600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr18:43801600-43805000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr18:43801800-43805000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr18:43801800-43805200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr18:43802200-43805200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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