Variant report

Variant	rs6573000
Chromosome Location	chr14:55543127-55543128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55532764..55536002-chr14:55540824..55544423,3	MCF-7	breast:
2	chr14:55541558..55543377-chr14:55546059..55547718,2	K562	blood:
3	chr14:55540374..55545656-chr14:55545839..55552985,7	K562	blood:
4	chr14:55540168..55541709-chr14:55541911..55544234,2	MCF-7	breast:
5	chr14:55517772..55519783-chr14:55542874..55545035,3	MCF-7	breast:
6	chr14:55541160..55544026-chr14:55549457..55552985,4	K562	blood:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1002054	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10135721	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145170	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10145268	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10220693	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11848846	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11849090	0.84[ASN][1000 genomes]
rs11849878	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11849961	0.84[EUR][1000 genomes]
rs11851178	0.88[ASN][1000 genomes]
rs1187873	0.84[ASN][1000 genomes]
rs1187874	0.82[ASN][1000 genomes]
rs1187876	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1187877	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1187878	0.86[ASN][1000 genomes]
rs1187881	0.85[EUR][1000 genomes]
rs1187883	0.82[EUR][1000 genomes]
rs1201378	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1209087	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1212641	0.84[ASN][1000 genomes]
rs13379159	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17128128	0.88[ASN][1000 genomes]
rs17128132	0.88[ASN][1000 genomes]
rs17128145	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17832311	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1952085	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2147964	0.82[EUR][1000 genomes]
rs2251366	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2340921	0.82[EUR][1000 genomes]
rs2340943	0.85[ASN][1000 genomes]
rs3742564	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55843949	0.85[ASN][1000 genomes]
rs56262555	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56725788	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60805089	0.88[ASN][1000 genomes]
rs6572999	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573001	0.83[EUR][1000 genomes]
rs7141975	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144652	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7149965	0.88[ASN][1000 genomes]
rs7151224	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7151431	0.86[ASN][1000 genomes]
rs7161656	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs748017	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8004416	0.87[EUR][1000 genomes]
rs8005399	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008134	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8012156	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8012676	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8019978	0.83[EUR][1000 genomes]
rs8021929	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8022238	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8022405	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9323278	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9806049	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3530630	chr14:55542536-55543793	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
2	esv3530631	chr14:55542536-55543793	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55530000-55544200	Weak transcription	Right Atrium	heart
2	chr14:55530000-55544200	Weak transcription	Right Ventricle	heart
3	chr14:55530000-55554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55530800-55544200	Weak transcription	Colonic Mucosa	Colon
5	chr14:55531000-55544200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:55532400-55544000	Weak transcription	Esophagus	oesophagus
7	chr14:55535000-55544400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:55535600-55544000	Weak transcription	A549	lung
9	chr14:55536600-55544200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:55539200-55543800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:55539200-55544400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:55539400-55543200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:55539400-55544000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:55539600-55543200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:55539600-55543600	Weak transcription	Placenta	Placenta
16	chr14:55539600-55543800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:55539600-55543800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:55539600-55544400	Weak transcription	Left Ventricle	heart
19	chr14:55539800-55543600	Weak transcription	Fetal Intestine Small	intestine
20	chr14:55540200-55544000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:55541600-55543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:55541600-55543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:55541600-55544000	Weak transcription	Fetal Muscle Leg	muscle
24	chr14:55541600-55556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:55541800-55543800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:55541800-55543800	Weak transcription	Stomach Mucosa	stomach
27	chr14:55541800-55543800	Enhancers	NHEK	skin
28	chr14:55541800-55544000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:55541800-55544000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:55541800-55544000	Weak transcription	Fetal Lung	lung
31	chr14:55541800-55544000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:55541800-55544200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:55542000-55543800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:55542400-55543800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:55542400-55543800	Weak transcription	HepG2	liver
36	chr14:55542600-55543800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:55542600-55544000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:55542800-55543800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:55542800-55543800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr14:55542800-55543800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:55542800-55543800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:55542800-55543800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:55542800-55543800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:55542800-55543800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:55542800-55543800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr14:55542800-55544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:55542800-55544200	Weak transcription	HSMM	muscle
48	chr14:55542800-55544200	Weak transcription	NH-A	brain
49	chr14:55542800-55544600	Enhancers	GM12878-XiMat	blood
50	chr14:55542800-55544600	Weak transcription	HSMMtube	muscle

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