Variant report

Variant	rs58014933
Chromosome Location	chr15:59431555-59431556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs12438949	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12443442	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941030	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16941040	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941042	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941046	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16941055	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16941063	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941069	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16953412	0.86[ASN][1000 genomes]
rs17236439	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044436	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414620	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28365901	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28376133	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28383490	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383491	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383497	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383502	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383504	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383512	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383513	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383531	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383536	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28383542	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28383545	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28383546	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28383549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28383551	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28383552	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28383553	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28383561	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28399204	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28406885	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28491732	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28615244	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28739024	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2899643	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3751538	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3764193	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3764194	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3803449	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3809531	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4523870	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56187627	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56294483	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56891889	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57057009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57267136	0.90[AFR][1000 genomes]
rs57452205	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57750394	0.91[EUR][1000 genomes]
rs57803886	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58207484	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58321899	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58827061	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59037515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59398329	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59921711	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60185666	0.94[AFR][1000 genomes]
rs60533405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60628647	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60785075	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60899149	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60964484	0.90[EUR][1000 genomes]
rs61369543	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61690344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73418826	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73418888	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73418890	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73418896	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74017339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017345	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs74017356	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74017357	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74017366	0.94[AFR][1000 genomes]
rs8035850	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1009383	chr15:59431106-59432272	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3433385	chr15:59431381-59431676	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59397800-59450000	Weak transcription	Small Intestine	intestine
2	chr15:59398000-59462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:59399600-59437000	Strong transcription	Fetal Thymus	thymus
4	chr15:59401200-59439800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:59409600-59438600	Weak transcription	Primary T cells from cord blood	blood
6	chr15:59421000-59437600	Strong transcription	Dnd41	blood
7	chr15:59421400-59433600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:59421400-59453400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:59421800-59432200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:59421800-59433200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:59422200-59438800	Strong transcription	Thymus	Thymus
12	chr15:59422200-59451200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:59422600-59432800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:59422600-59432800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:59422600-59439600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:59422600-59440200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:59422600-59440600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr15:59422600-59447600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:59422600-59451000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:59422800-59433600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:59422800-59436400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:59422800-59437000	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:59423000-59432800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:59423000-59433200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:59423000-59433400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:59423000-59440000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:59423000-59440200	Strong transcription	Fetal Stomach	stomach
28	chr15:59423200-59432800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:59423200-59437200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:59423400-59432800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:59423400-59432800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:59423400-59433600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:59423400-59437000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr15:59423400-59439200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:59423800-59432600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:59423800-59432600	Strong transcription	NHEK	skin
37	chr15:59423800-59433800	Strong transcription	Osteobl	bone
38	chr15:59424000-59433600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:59424000-59435600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:59424400-59432200	Strong transcription	A549	lung
41	chr15:59424400-59461400	Strong transcription	Hela-S3	cervix
42	chr15:59424800-59432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:59425200-59455200	Strong transcription	Fetal Intestine Small	intestine
44	chr15:59425400-59432800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:59425400-59436400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:59425400-59455200	Strong transcription	Fetal Intestine Large	intestine
47	chr15:59425600-59431600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:59425800-59459600	Strong transcription	Liver	Liver
49	chr15:59426000-59432400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr15:59426200-59433000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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