Variant report

Variant	rs60805089
Chromosome Location	chr14:55503348-55503349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55500393..55503713-chr14:55510224..55513637,3	K562	blood:
2	chr14:55502714..55504293-chr14:55517954..55519787,2	MCF-7	breast:
3	chr14:55502120..55504478-chr14:55509469..55511671,2	MCF-7	breast:
4	chr14:55501256..55503493-chr14:55519727..55521826,2	K562	blood:
5	chr14:55501407..55503873-chr14:55516393..55519235,2	K562	blood:
6	chr14:55496919..55499734-chr14:55501558..55503499,2	K562	blood:
7	chr14:55500498..55503547-chr14:55504046..55507055,3	K562	blood:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1002054	0.90[ASN][1000 genomes]
rs10135721	0.89[ASN][1000 genomes]
rs10145170	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10145268	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10220693	0.87[ASN][1000 genomes]
rs11849090	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11849878	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11851178	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187873	0.85[ASN][1000 genomes]
rs1187874	0.83[ASN][1000 genomes]
rs1187876	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1187877	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1187878	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1187881	0.84[ASN][1000 genomes]
rs1187882	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1201378	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1209087	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1212641	0.85[ASN][1000 genomes]
rs13379159	0.90[ASN][1000 genomes]
rs17128128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128145	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17832311	0.90[ASN][1000 genomes]
rs1952085	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2251366	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2340943	0.82[ASN][1000 genomes]
rs3742564	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55843949	0.82[ASN][1000 genomes]
rs56725788	0.90[ASN][1000 genomes]
rs6572999	0.90[ASN][1000 genomes]
rs6573000	0.88[ASN][1000 genomes]
rs7141975	0.88[ASN][1000 genomes]
rs7144652	0.87[ASN][1000 genomes]
rs7149965	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150145	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151224	0.89[ASN][1000 genomes]
rs7151431	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7161656	0.89[ASN][1000 genomes]
rs748017	0.82[ASN][1000 genomes]
rs8005399	0.90[ASN][1000 genomes]
rs8008134	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021929	0.86[ASN][1000 genomes]
rs8022238	0.85[ASN][1000 genomes]
rs8022405	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323278	0.90[ASN][1000 genomes]
rs9806049	0.86[ASN][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55494400-55509800	Weak transcription	Spleen	Spleen
2	chr14:55494400-55517600	Weak transcription	Lung	lung
3	chr14:55494600-55509800	Weak transcription	Gastric	stomach
4	chr14:55495000-55509800	Weak transcription	Ovary	ovary
5	chr14:55495000-55517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:55495000-55517600	Weak transcription	Esophagus	oesophagus
7	chr14:55495200-55504800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:55495200-55504800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:55495200-55507600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:55495200-55509800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:55495200-55510400	Weak transcription	Psoas Muscle	Psoas
12	chr14:55495200-55517600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:55495200-55517600	Weak transcription	Colonic Mucosa	Colon
14	chr14:55495200-55517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:55495200-55517800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:55495400-55509800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:55495400-55517600	Weak transcription	Right Ventricle	heart
18	chr14:55495600-55503600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:55495600-55504200	Weak transcription	Small Intestine	intestine
20	chr14:55495600-55505400	Weak transcription	Fetal Stomach	stomach
21	chr14:55495600-55509800	Weak transcription	Aorta	Aorta
22	chr14:55495600-55509800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:55495600-55509800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:55495600-55510000	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:55495600-55510000	Weak transcription	Fetal Brain Female	brain
26	chr14:55495600-55517600	Weak transcription	Brain Substantia Nigra	brain
27	chr14:55495600-55517600	Weak transcription	Fetal Kidney	kidney
28	chr14:55495600-55517600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:55495800-55505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:55496000-55509800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:55496000-55510400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:55496200-55505000	Weak transcription	Stomach Mucosa	stomach
33	chr14:55496200-55509800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:55496200-55509800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:55496200-55509800	Weak transcription	NHLF	lung
36	chr14:55496200-55510000	Weak transcription	Brain Anterior Caudate	brain
37	chr14:55496200-55510400	Weak transcription	Brain Germinal Matrix	brain
38	chr14:55496200-55510400	Weak transcription	Fetal Lung	lung
39	chr14:55496200-55517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:55496200-55517600	Weak transcription	Fetal Heart	heart
41	chr14:55496400-55503400	Weak transcription	Primary B cells from cord blood	blood
42	chr14:55496400-55510000	Weak transcription	Liver	Liver
43	chr14:55496400-55510000	Weak transcription	Fetal Brain Male	brain
44	chr14:55496800-55509600	Weak transcription	Thymus	Thymus
45	chr14:55496800-55510000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:55496800-55510000	Weak transcription	Brain Angular Gyrus	brain
47	chr14:55496800-55510200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:55496800-55512600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:55497000-55505200	Weak transcription	NHEK	skin
50	chr14:55498200-55504800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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