Variant report

Variant	rs7239657
Chromosome Location	chr18:43800279-43800280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43751426..43754548-chr18:43797432..43800779,3	K562	blood:
2	chr18:43751426..43753424-chr18:43797848..43800779,3	K562	blood:
3	chr18:43793521..43796168-chr18:43800123..43802116,2	MCF-7	breast:
4	chr18:43799735..43802045-chr18:43803265..43805117,3	K562	blood:
5	chr18:43800168..43802045-chr18:43803617..43805838,2	K562	blood:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs16978543	1.00[AMR][1000 genomes]
rs16978544	1.00[AMR][1000 genomes]
rs16978555	1.00[AMR][1000 genomes]
rs16978556	1.00[AMR][1000 genomes]
rs55701724	1.00[AMR][1000 genomes]
rs55740138	1.00[EUR][1000 genomes]
rs55759370	1.00[EUR][1000 genomes]
rs55767951	1.00[EUR][1000 genomes]
rs55880870	1.00[EUR][1000 genomes]
rs55900453	1.00[EUR][1000 genomes]
rs56044366	1.00[EUR][1000 genomes]
rs56065400	1.00[EUR][1000 genomes]
rs56656421	1.00[EUR][1000 genomes]
rs56912043	1.00[EUR][1000 genomes]
rs57502921	1.00[EUR][1000 genomes]
rs57693291	1.00[EUR][1000 genomes]
rs57803441	1.00[EUR][1000 genomes]
rs58398659	1.00[EUR][1000 genomes]
rs58725857	1.00[EUR][1000 genomes]
rs58899840	1.00[EUR][1000 genomes]
rs58961089	1.00[EUR][1000 genomes]
rs59182447	1.00[EUR][1000 genomes]
rs59910849	1.00[EUR][1000 genomes]
rs60077572	1.00[EUR][1000 genomes]
rs60099048	1.00[AMR][1000 genomes]
rs60100844	1.00[EUR][1000 genomes]
rs60114246	1.00[EUR][1000 genomes]
rs60336955	1.00[EUR][1000 genomes]
rs7226417	1.00[EUR][1000 genomes]
rs7235500	1.00[EUR][1000 genomes]
rs7237569	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240916	1.00[EUR][1000 genomes]
rs7241791	1.00[EUR][1000 genomes]
rs73425190	1.00[EUR][1000 genomes]
rs73953836	1.00[AMR][1000 genomes]
rs73953838	1.00[AMR][1000 genomes]
rs73953839	1.00[AMR][1000 genomes]
rs73953840	1.00[AMR][1000 genomes]
rs73953841	1.00[AMR][1000 genomes]
rs73953843	1.00[AMR][1000 genomes]
rs73953845	1.00[AMR][1000 genomes]
rs73953846	1.00[AMR][1000 genomes]
rs73956204	1.00[EUR][1000 genomes]
rs73956207	1.00[EUR][1000 genomes]
rs73956220	1.00[EUR][1000 genomes]
rs73956221	1.00[EUR][1000 genomes]
rs73956222	1.00[EUR][1000 genomes]
rs73956223	1.00[EUR][1000 genomes]
rs73956231	1.00[EUR][1000 genomes]
rs73956233	1.00[EUR][1000 genomes]
rs73956234	1.00[EUR][1000 genomes]
rs73956249	1.00[EUR][1000 genomes]
rs73956251	1.00[EUR][1000 genomes]
rs73956252	1.00[EUR][1000 genomes]
rs73956262	1.00[EUR][1000 genomes]
rs73956263	1.00[EUR][1000 genomes]
rs73956265	1.00[EUR][1000 genomes]
rs73956267	1.00[EUR][1000 genomes]
rs73956271	1.00[EUR][1000 genomes]
rs73956274	1.00[EUR][1000 genomes]
rs73956275	1.00[EUR][1000 genomes]
rs73956276	1.00[EUR][1000 genomes]
rs73956287	1.00[EUR][1000 genomes]
rs8083843	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8088778	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8096742	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43769200-43802800	Weak transcription	Brain Hippocampus Middle	brain
2	chr18:43776400-43802000	Weak transcription	Brain Germinal Matrix	brain
3	chr18:43777000-43812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:43777800-43805000	Weak transcription	Fetal Intestine Small	intestine
5	chr18:43784600-43802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:43791600-43804200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:43792200-43814600	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:43794400-43801600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr18:43794600-43801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:43794800-43802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:43794800-43802600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:43794800-43815000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:43795600-43800400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:43795600-43800400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr18:43795800-43800400	Strong transcription	GM12878-XiMat	blood
16	chr18:43795800-43800800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:43795800-43801200	Strong transcription	Dnd41	blood
18	chr18:43795800-43802000	Strong transcription	Primary B cells from cord blood	blood
19	chr18:43796000-43801000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr18:43796400-43800800	Weak transcription	Right Ventricle	heart
21	chr18:43796400-43806400	Weak transcription	Small Intestine	intestine
22	chr18:43796600-43800800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:43796600-43800800	Weak transcription	Fetal Stomach	stomach
24	chr18:43796600-43801600	Weak transcription	Fetal Heart	heart
25	chr18:43796600-43802200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr18:43796600-43802400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr18:43796600-43803000	Weak transcription	Brain Angular Gyrus	brain
28	chr18:43796600-43803000	Weak transcription	Right Atrium	heart
29	chr18:43796600-43803200	Weak transcription	HUVEC	blood vessel
30	chr18:43796600-43803600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr18:43796600-43804000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:43796600-43804800	Weak transcription	Gastric	stomach
33	chr18:43796600-43804800	Weak transcription	Left Ventricle	heart
34	chr18:43796600-43809600	Weak transcription	Aorta	Aorta
35	chr18:43796600-43809600	Weak transcription	Esophagus	oesophagus
36	chr18:43796600-43809600	Weak transcription	Lung	lung
37	chr18:43796600-43809600	Weak transcription	Spleen	Spleen
38	chr18:43796600-43814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr18:43796600-43815200	Weak transcription	Pancreas	Pancrea
40	chr18:43796600-43820000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr18:43796600-43827600	Weak transcription	Fetal Muscle Leg	muscle
42	chr18:43796800-43802000	Weak transcription	Brain Substantia Nigra	brain
43	chr18:43796800-43804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:43796800-43804800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:43796800-43814800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr18:43797000-43801000	Weak transcription	Thymus	Thymus
47	chr18:43797000-43801200	Weak transcription	A549	lung
48	chr18:43797000-43801800	Weak transcription	Brain Anterior Caudate	brain
49	chr18:43797000-43802800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:43797000-43804200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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