Variant report

Variant	rs2593167
Chromosome Location	chr15:52179208-52179209
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52178354..52182152-chr15:52182217..52184276,3	MCF-7	breast:
2	chr15:52178970..52182464-chr15:52190725..52193689,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259201	Chromatin interaction
ENSG00000138594	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10444823	0.82[EUR][1000 genomes]
rs10775145	0.80[EUR][1000 genomes]
rs11638161	0.81[EUR][1000 genomes]
rs12438686	0.82[ASN][1000 genomes]
rs12903707	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17705732	0.82[ASN][1000 genomes]
rs1811326	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1867984	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1895863	0.86[ASN][1000 genomes]
rs1972689	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2006772	0.85[EUR][1000 genomes]
rs2014638	0.84[EUR][1000 genomes]
rs2252606	0.81[ASN][1000 genomes]
rs2253116	0.81[ASN][1000 genomes]
rs2264339	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2303443	0.87[EUR][1000 genomes]
rs2414119	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2436661	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2470619	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2554305	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2554306	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2554307	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2554308	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2554332	0.88[EUR][1000 genomes]
rs2554334	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2554336	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2554342	0.81[ASN][1000 genomes]
rs2554345	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2554349	0.81[ASN][1000 genomes]
rs2554350	0.81[ASN][1000 genomes]
rs2570224	0.88[EUR][1000 genomes]
rs2570228	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2570231	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2570233	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2570235	0.84[EUR][1000 genomes]
rs2570236	0.84[EUR][1000 genomes]
rs2570237	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2570251	0.85[EUR][1000 genomes]
rs2570252	0.88[EUR][1000 genomes]
rs2570253	0.88[EUR][1000 genomes]
rs2570258	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2570260	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2570263	0.82[ASN][1000 genomes]
rs2570268	0.81[ASN][1000 genomes]
rs2570275	0.81[ASN][1000 genomes]
rs2593173	0.81[ASN][1000 genomes]
rs2593183	0.81[ASN][1000 genomes]
rs2593191	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593198	0.81[ASN][1000 genomes]
rs2593202	0.81[ASN][1000 genomes]
rs2623254	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2623259	0.88[EUR][1000 genomes]
rs2623262	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2623279	0.81[ASN][1000 genomes]
rs2623281	0.81[ASN][1000 genomes]
rs2623283	0.81[ASN][1000 genomes]
rs2623286	0.80[ASN][1000 genomes]
rs2623288	0.81[ASN][1000 genomes]
rs3751596	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3794534	0.83[EUR][1000 genomes]
rs3794535	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3794536	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4534783	0.80[EUR][1000 genomes]
rs4775982	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4775983	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58758283	0.82[ASN][1000 genomes]
rs60329909	0.82[ASN][1000 genomes]
rs6493522	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493523	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67895020	0.87[EUR][1000 genomes]
rs7162554	0.81[ASN][1000 genomes]
rs7171459	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7174941	0.81[EUR][1000 genomes]
rs7176421	0.87[ASN][1000 genomes]
rs7182917	0.83[EUR][1000 genomes]
rs72732952	0.86[ASN][1000 genomes]
rs8041268	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs919059	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs990665	0.81[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	nsv569409	chr15:52028914-52268144	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830255	chr15:52133914-52274863	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52155600-52192000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:52156000-52211000	Weak transcription	Brain Substantia Nigra	brain
3	chr15:52163000-52186800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:52163200-52184200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:52163400-52181400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:52163400-52186200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:52165200-52181800	Weak transcription	Esophagus	oesophagus
8	chr15:52165800-52183600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr15:52167200-52186200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:52167200-52210800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:52167600-52192000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:52167600-52199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:52167800-52181400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr15:52167800-52188600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:52168200-52183200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:52168600-52188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:52168800-52183800	Weak transcription	Fetal Thymus	thymus
18	chr15:52169200-52179600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:52169400-52179800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:52169800-52181200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr15:52170400-52179800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:52170400-52186400	Weak transcription	Thymus	Thymus
23	chr15:52170400-52186600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:52170600-52181800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:52170600-52184800	Weak transcription	Lung	lung
26	chr15:52170600-52186000	Weak transcription	Left Ventricle	heart
27	chr15:52171000-52180200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:52171000-52180400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr15:52171000-52184400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr15:52171000-52210800	Weak transcription	Right Ventricle	heart
31	chr15:52171200-52179800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:52171200-52190200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:52171400-52180200	Weak transcription	Liver	Liver
34	chr15:52171400-52181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr15:52171600-52179600	Weak transcription	HepG2	liver
36	chr15:52171600-52187000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:52171800-52183000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:52172200-52181800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:52172200-52186000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr15:52172200-52186600	Weak transcription	Fetal Kidney	kidney
41	chr15:52172200-52190200	Weak transcription	Fetal Heart	heart
42	chr15:52172200-52192000	Weak transcription	Fetal Brain Male	brain
43	chr15:52172400-52179800	Weak transcription	K562	blood
44	chr15:52172400-52181600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr15:52172800-52180000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr15:52172800-52208200	Weak transcription	Brain Angular Gyrus	brain
47	chr15:52173000-52184000	Weak transcription	Stomach Mucosa	stomach
48	chr15:52173200-52179600	Weak transcription	Hela-S3	cervix
49	chr15:52173200-52181600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:52173600-52179800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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