Variant report

Variant	rs60533405
Chromosome Location	chr15:59294947-59294948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59278836..59281901-chr15:59291877..59295229,4	K562	blood:
2	chr15:59287410..59289323-chr15:59293303..59295381,3	K562	blood:
3	chr15:59293658..59297788-chr15:59301854..59304801,3	K562	blood:

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs12438949	1.00[EUR][1000 genomes]
rs12443442	0.91[EUR][1000 genomes]
rs16941030	0.83[EUR][1000 genomes]
rs16941040	0.83[EUR][1000 genomes]
rs16941042	0.83[EUR][1000 genomes]
rs16941046	0.83[EUR][1000 genomes]
rs16941051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941063	0.83[EUR][1000 genomes]
rs16941069	0.83[EUR][1000 genomes]
rs17236439	0.91[EUR][1000 genomes]
rs2044436	0.83[EUR][1000 genomes]
rs2414620	0.83[EUR][1000 genomes]
rs28365901	0.83[EUR][1000 genomes]
rs28376133	0.83[EUR][1000 genomes]
rs28383490	0.83[EUR][1000 genomes]
rs28383491	0.83[EUR][1000 genomes]
rs28383497	0.83[EUR][1000 genomes]
rs28383502	0.83[EUR][1000 genomes]
rs28383504	0.83[EUR][1000 genomes]
rs28383512	1.00[EUR][1000 genomes]
rs28383513	0.83[EUR][1000 genomes]
rs28383514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28383519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28383520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28383523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28383531	0.83[EUR][1000 genomes]
rs28383536	1.00[EUR][1000 genomes]
rs28383542	0.83[EUR][1000 genomes]
rs28383545	0.83[EUR][1000 genomes]
rs28383546	0.83[EUR][1000 genomes]
rs28383549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28383551	0.83[EUR][1000 genomes]
rs28383552	0.83[EUR][1000 genomes]
rs28383553	1.00[EUR][1000 genomes]
rs28383561	1.00[EUR][1000 genomes]
rs28399204	0.83[EUR][1000 genomes]
rs28406885	0.83[EUR][1000 genomes]
rs28491732	0.83[EUR][1000 genomes]
rs28615244	0.83[EUR][1000 genomes]
rs28739024	0.83[EUR][1000 genomes]
rs2899643	0.83[EUR][1000 genomes]
rs3751538	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3764193	0.83[EUR][1000 genomes]
rs3764194	0.83[EUR][1000 genomes]
rs3803449	0.83[EUR][1000 genomes]
rs3809531	0.83[EUR][1000 genomes]
rs4523870	0.83[EUR][1000 genomes]
rs56187627	0.83[EUR][1000 genomes]
rs56294483	0.83[EUR][1000 genomes]
rs56891889	0.83[EUR][1000 genomes]
rs57057009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57452205	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57750394	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57803886	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58014933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58207484	1.00[EUR][1000 genomes]
rs58321899	1.00[EUR][1000 genomes]
rs58827061	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59037515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59398329	0.83[EUR][1000 genomes]
rs59921711	0.83[EUR][1000 genomes]
rs60628647	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60785075	0.83[EUR][1000 genomes]
rs60899149	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60964484	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61369543	1.00[EUR][1000 genomes]
rs61690344	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6494066	0.85[ASN][1000 genomes]
rs73418826	0.91[EUR][1000 genomes]
rs73418888	0.83[EUR][1000 genomes]
rs73418890	0.83[EUR][1000 genomes]
rs73418896	0.83[EUR][1000 genomes]
rs74017339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74017345	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74017356	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74017357	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59295200	Weak transcription	Gastric	stomach
2	chr15:59280800-59308800	Weak transcription	Esophagus	oesophagus
3	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
4	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:59281400-59305800	Weak transcription	Brain Substantia Nigra	brain
6	chr15:59281400-59323200	Weak transcription	Ovary	ovary
7	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
8	chr15:59281600-59311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:59281800-59297800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
11	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:59282000-59305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:59282000-59323000	Weak transcription	Fetal Lung	lung
14	chr15:59282000-59323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:59282000-59323200	Weak transcription	Fetal Kidney	kidney
16	chr15:59282400-59296800	Weak transcription	NH-A	brain
17	chr15:59282400-59297400	Weak transcription	HMEC	breast
18	chr15:59282400-59305400	Weak transcription	Fetal Heart	heart
19	chr15:59282400-59308600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:59282400-59323200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:59282400-59323400	Weak transcription	NHLF	lung
22	chr15:59282600-59297600	Weak transcription	NHDF-Ad	bronchial
23	chr15:59282600-59306400	Weak transcription	Brain Angular Gyrus	brain
24	chr15:59282800-59297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:59283600-59296200	Weak transcription	HepG2	liver
26	chr15:59283600-59305600	Weak transcription	Stomach Mucosa	stomach
27	chr15:59283800-59295000	Weak transcription	Primary T cells from cord blood	blood
28	chr15:59283800-59296400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:59283800-59297200	Weak transcription	NHEK	skin
30	chr15:59283800-59305600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:59283800-59313400	Weak transcription	Right Atrium	heart
32	chr15:59283800-59329000	Weak transcription	Pancreas	Pancrea
33	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
35	chr15:59284000-59296600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:59284000-59305600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:59284200-59299000	Weak transcription	Spleen	Spleen
38	chr15:59284400-59296200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:59284400-59297400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:59284400-59297800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:59284600-59295200	Weak transcription	Lung	lung
42	chr15:59284600-59298600	Weak transcription	Hela-S3	cervix
43	chr15:59284600-59305600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:59284600-59308800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:59284600-59323000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr15:59284800-59297800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:59284800-59308800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:59284800-59323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:59285000-59295200	Weak transcription	Fetal Brain Female	brain
50	chr15:59285000-59295200	Weak transcription	Thymus	Thymus

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