Variant report

Variant	rs6493116
Chromosome Location	chr15:45027371-45027372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:45027045-45027371	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:45026782-45029029	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45023381..45025448-chr15:45025750..45028382,2	K562	blood:

Variant related genes	Relation type
TRIM69	TF binding region

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]
rs4923991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45022200-45027600	Weak transcription	Colonic Mucosa	Colon
2	chr15:45022200-45027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:45022200-45027800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:45022400-45027800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr15:45022400-45027800	Weak transcription	Placenta	Placenta
6	chr15:45022400-45028000	Weak transcription	Psoas Muscle	Psoas
7	chr15:45022600-45028000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:45022600-45028800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:45022800-45028000	Weak transcription	Fetal Kidney	kidney
10	chr15:45022800-45030800	Weak transcription	HUVEC	blood vessel
11	chr15:45023000-45027600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:45023000-45028000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:45023200-45027800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:45024000-45027800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:45024000-45031200	Weak transcription	HMEC	breast
16	chr15:45024200-45027800	Weak transcription	Fetal Stomach	stomach
17	chr15:45024200-45027800	Weak transcription	Thymus	Thymus
18	chr15:45024200-45028000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:45024200-45032200	Weak transcription	Right Atrium	heart
20	chr15:45024400-45027600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:45024400-45028200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:45024400-45028200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:45024400-45028400	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:45024400-45028800	Weak transcription	Lung	lung
25	chr15:45024400-45031200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:45024600-45027600	Weak transcription	HSMM	muscle
27	chr15:45024600-45027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:45024600-45027800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr15:45024600-45027800	Weak transcription	Liver	Liver
30	chr15:45024800-45027600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr15:45024800-45028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:45025000-45027600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr15:45025000-45027600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr15:45025000-45027600	Weak transcription	Fetal Brain Female	brain
35	chr15:45025000-45028000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:45025000-45028000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:45025000-45028600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:45025000-45030800	Weak transcription	Brain Angular Gyrus	brain
39	chr15:45025000-45030800	Weak transcription	Brain Anterior Caudate	brain
40	chr15:45025200-45027600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:45025400-45028200	Weak transcription	Left Ventricle	heart
42	chr15:45025600-45027600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr15:45025600-45028000	Weak transcription	Spleen	Spleen
44	chr15:45025800-45027800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:45026000-45029000	Enhancers	Primary B cells from peripheral blood	blood
46	chr15:45026400-45029000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr15:45026400-45029000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:45026600-45028800	Enhancers	Primary T cells from cord blood	blood
49	chr15:45026600-45029000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:45026600-45029200	Enhancers	Primary monocytes fromperipheralblood	blood

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