Variant report

Variant	rs4923991
Chromosome Location	chr15:45026486-45026487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45017745..45022716-chr15:45023664..45026968,5	MCF-7	breast:
2	chr15:45023381..45025448-chr15:45025750..45028382,2	K562	blood:
3	chr15:44952664..44955644-chr15:45024060..45026873,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185880	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10163110	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10444818	0.90[ASN][1000 genomes]
rs1137516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634059	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11634063	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11639157	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12912870	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1630168	0.94[EUR][1000 genomes]
rs1669833	0.94[EUR][1000 genomes]
rs1690313	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16974543	0.94[EUR][1000 genomes]
rs1720723	0.94[EUR][1000 genomes]
rs1720724	0.94[EUR][1000 genomes]
rs1869125	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1901530	0.81[EUR][1000 genomes]
rs1901538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1993152	0.96[ASN][1000 genomes]
rs1993153	0.96[ASN][1000 genomes]
rs2084835	0.94[ASN][1000 genomes]
rs2167595	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468067	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470913	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2960206	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3100140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3100141	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3110677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759878	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759881	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4923990	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923993	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62024991	0.81[EUR][1000 genomes]
rs62025968	1.00[EUR][1000 genomes]
rs62025969	0.97[EUR][1000 genomes]
rs6416439	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6416440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493110	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493111	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493112	0.96[ASN][1000 genomes]
rs6493114	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493118	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493119	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493124	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493126	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6493127	0.94[EUR][1000 genomes]
rs6493128	1.00[EUR][1000 genomes]
rs7151	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7165535	0.94[ASN][1000 genomes]
rs7168090	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7172357	1.00[EUR][1000 genomes]
rs7172376	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7496437	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7496559	0.94[EUR][1000 genomes]
rs7497862	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8035787	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036223	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8038532	0.97[EUR][1000 genomes]
rs935885	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs935888	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935889	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45022200-45027200	Weak transcription	Aorta	Aorta
2	chr15:45022200-45027600	Weak transcription	Colonic Mucosa	Colon
3	chr15:45022200-45027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:45022200-45027800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:45022400-45026800	Weak transcription	K562	blood
6	chr15:45022400-45027800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr15:45022400-45027800	Weak transcription	Placenta	Placenta
8	chr15:45022400-45028000	Weak transcription	Psoas Muscle	Psoas
9	chr15:45022600-45027200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:45022600-45028000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:45022600-45028800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:45022800-45028000	Weak transcription	Fetal Kidney	kidney
13	chr15:45022800-45030800	Weak transcription	HUVEC	blood vessel
14	chr15:45023000-45026800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:45023000-45027000	Weak transcription	Brain Substantia Nigra	brain
16	chr15:45023000-45027000	Weak transcription	NHDF-Ad	bronchial
17	chr15:45023000-45027200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:45023000-45027200	Weak transcription	NHLF	lung
19	chr15:45023000-45027600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:45023000-45028000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:45023200-45027200	Weak transcription	Fetal Intestine Small	intestine
22	chr15:45023200-45027800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:45023400-45027200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:45023800-45027200	Weak transcription	Hela-S3	cervix
25	chr15:45024000-45027200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:45024000-45027800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:45024000-45031200	Weak transcription	HMEC	breast
28	chr15:45024200-45027200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:45024200-45027200	Weak transcription	Dnd41	blood
30	chr15:45024200-45027800	Weak transcription	Fetal Stomach	stomach
31	chr15:45024200-45027800	Weak transcription	Thymus	Thymus
32	chr15:45024200-45028000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:45024200-45032200	Weak transcription	Right Atrium	heart
34	chr15:45024400-45026800	Weak transcription	Small Intestine	intestine
35	chr15:45024400-45027200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:45024400-45027200	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:45024400-45027200	Weak transcription	Fetal Heart	heart
38	chr15:45024400-45027200	Weak transcription	Ovary	ovary
39	chr15:45024400-45027600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:45024400-45028200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:45024400-45028200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:45024400-45028400	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:45024400-45028800	Weak transcription	Lung	lung
44	chr15:45024400-45031200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:45024600-45026800	Weak transcription	Primary B cells from cord blood	blood
46	chr15:45024600-45027000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:45024600-45027200	Weak transcription	Adipose Nuclei	Adipose
48	chr15:45024600-45027200	Weak transcription	Fetal Lung	lung
49	chr15:45024600-45027600	Weak transcription	HSMM	muscle
50	chr15:45024600-45027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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