Variant report

Variant	rs6493028
Chromosome Location	chr15:42561031-42561032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42559733..42563310-chr15:42678634..42681534,3	K562	blood:

Extended variants
information (count: 188 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10518757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062016	1.00[EUR][1000 genomes]
rs11070363	0.85[AFR][1000 genomes]
rs11070367	1.00[ASN][1000 genomes]
rs11070368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070369	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070371	1.00[ASN][1000 genomes]
rs1142536	1.00[EUR][1000 genomes]
rs11631711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635876	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637010	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637045	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856807	1.00[ASN][1000 genomes]
rs11858453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441027	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442769	0.81[AFR][1000 genomes]
rs12592200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902924	1.00[ASN][1000 genomes]
rs12903494	0.97[ASN][1000 genomes]
rs12907489	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915946	0.85[AFR][1000 genomes]
rs12916523	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917071	0.85[AFR][1000 genomes]
rs1616957	0.85[AFR][1000 genomes]
rs1619537	0.85[AFR][1000 genomes]
rs1630294	0.85[AFR][1000 genomes]
rs1659214	1.00[ASN][1000 genomes]
rs1659215	0.94[ASN][1000 genomes]
rs1659216	1.00[ASN][1000 genomes]
rs1659220	1.00[ASN][1000 genomes]
rs1659223	1.00[ASN][1000 genomes]
rs1659224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1659226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678987	0.85[AFR][1000 genomes]
rs1678988	0.85[AFR][1000 genomes]
rs1678989	0.85[AFR][1000 genomes]
rs1678990	0.85[AFR][1000 genomes]
rs1678997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678998	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1712397	0.85[AFR][1000 genomes]
rs1712408	0.85[AFR][1000 genomes]
rs1712409	0.85[AFR][1000 genomes]
rs1712420	0.85[AFR][1000 genomes]
rs1712422	0.85[AFR][1000 genomes]
rs2289293	1.00[AMR][1000 genomes]
rs2289297	1.00[ASN][1000 genomes]
rs2412675	0.97[ASN][1000 genomes]
rs2412676	0.97[ASN][1000 genomes]
rs2412677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412678	1.00[ASN][1000 genomes]
rs2412681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412683	1.00[ASN][1000 genomes]
rs2412684	1.00[ASN][1000 genomes]
rs2412686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412689	1.00[ASN][1000 genomes]
rs2412690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412694	1.00[ASN][1000 genomes]
rs2412695	1.00[ASN][1000 genomes]
rs2412696	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412697	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412700	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2412701	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578651	1.00[ASN][1000 genomes]
rs2620372	1.00[ASN][1000 genomes]
rs2620374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2620375	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2620387	0.85[AFR][1000 genomes]
rs28364400	0.82[ASN][1000 genomes]
rs28364526	1.00[AMR][1000 genomes]
rs28364536	1.00[EUR][1000 genomes]
rs28364559	1.00[EUR][1000 genomes]
rs28489155	0.94[ASN][1000 genomes]
rs2899043	0.85[AFR][1000 genomes]
rs2899044	1.00[ASN][1000 genomes]
rs2918458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101895	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736096	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736097	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244589	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268723	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4556762	1.00[ASN][1000 genomes]
rs4583208	0.84[ASN][1000 genomes]
rs4583209	1.00[ASN][1000 genomes]
rs4595775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4617834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923934	0.85[AFR][1000 genomes]
rs4923936	1.00[ASN][1000 genomes]
rs4923937	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4923938	1.00[ASN][1000 genomes]
rs4923939	1.00[ASN][1000 genomes]
rs4923941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923944	1.00[ASN][1000 genomes]
rs4924633	0.85[AFR][1000 genomes]
rs4924640	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4924641	1.00[ASN][1000 genomes]
rs4924642	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4924643	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4924649	1.00[ASN][1000 genomes]
rs4924650	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924651	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924652	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924657	1.00[ASN][1000 genomes]
rs4924659	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924662	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924663	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924665	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924667	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924669	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924670	1.00[ASN][1000 genomes]
rs4924671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5028173	1.00[ASN][1000 genomes]
rs5028174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5029919	0.82[ASN][1000 genomes]
rs57052341	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs613090	0.85[AFR][1000 genomes]
rs6493024	0.97[ASN][1000 genomes]
rs6493026	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6493029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493034	1.00[ASN][1000 genomes]
rs6493037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493038	1.00[ASN][1000 genomes]
rs6493039	1.00[ASN][1000 genomes]
rs6493040	1.00[ASN][1000 genomes]
rs6493041	1.00[ASN][1000 genomes]
rs67384392	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7161982	0.94[ASN][1000 genomes]
rs7163345	1.00[ASN][1000 genomes]
rs7163941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164480	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7164484	0.97[ASN][1000 genomes]
rs7167306	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169553	1.00[ASN][1000 genomes]
rs7170592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170943	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7171379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172709	0.82[ASN][1000 genomes]
rs7173358	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176663	0.97[ASN][1000 genomes]
rs7176724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177193	1.00[ASN][1000 genomes]
rs7177463	1.00[ASN][1000 genomes]
rs7182777	1.00[ASN][1000 genomes]
rs7183399	0.82[ASN][1000 genomes]
rs7183843	1.00[ASN][1000 genomes]
rs8023568	1.00[ASN][1000 genomes]
rs8023678	1.00[ASN][1000 genomes]
rs8023714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023923	0.81[AFR][1000 genomes]
rs8024390	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030212	1.00[ASN][1000 genomes]
rs8030650	0.85[AFR][1000 genomes]
rs8037100	0.94[ASN][1000 genomes]
rs8037627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038978	0.87[AFR][1000 genomes]
rs8040580	0.91[AFR][1000 genomes]
rs8040698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040720	1.00[ASN][1000 genomes]
rs8043033	0.88[ASN][1000 genomes]
rs9920851	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1807328	chr15:42525300-42573278	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42500800-42563200	Weak transcription	Stomach Mucosa	stomach
2	chr15:42519400-42562800	Weak transcription	Fetal Heart	heart
3	chr15:42542800-42561600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:42543400-42561200	Strong transcription	Liver	Liver
5	chr15:42543800-42561600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr15:42544200-42561200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:42544200-42561200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:42544200-42561800	Strong transcription	Osteobl	bone
9	chr15:42544400-42561200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:42544400-42561200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:42544600-42561600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:42545000-42561400	Strong transcription	HSMM	muscle
13	chr15:42545600-42563400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:42545800-42561400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:42546000-42564600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:42546200-42564600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:42546600-42561600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr15:42547000-42564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr15:42547600-42561200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:42547600-42563400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:42548600-42561200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:42548800-42561200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:42548800-42561200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:42548800-42561400	Strong transcription	Hela-S3	cervix
25	chr15:42549600-42561200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr15:42549600-42564400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:42550000-42561200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:42551000-42561400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:42551000-42563400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:42551800-42561400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:42551800-42564600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:42552400-42563400	Weak transcription	Brain Angular Gyrus	brain
33	chr15:42552600-42564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:42552600-42565000	Weak transcription	Gastric	stomach
35	chr15:42552600-42565200	Weak transcription	Spleen	Spleen
36	chr15:42552800-42564600	Weak transcription	Aorta	Aorta
37	chr15:42552800-42564600	Weak transcription	Esophagus	oesophagus
38	chr15:42552800-42564600	Weak transcription	Right Ventricle	heart
39	chr15:42555800-42562400	Weak transcription	Pancreas	Pancrea
40	chr15:42556000-42562400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:42556000-42562600	Weak transcription	Ovary	ovary
42	chr15:42556000-42563000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:42556000-42563600	Weak transcription	Fetal Stomach	stomach
44	chr15:42556000-42564600	Weak transcription	Lung	lung
45	chr15:42556000-42565000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:42556200-42561400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr15:42556200-42561600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:42556200-42564600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr15:42557000-42561600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:42557200-42563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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