Variant report

Variant	rs6493114
Chromosome Location	chr15:45024679-45024680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45023220-45024977	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:45023700-45024939	GM12878	blood:	n/a	n/a
3	WRNIP1	chr15:45024350-45024801	GM12878	blood:	n/a	n/a
4	CUX1	chr15:45024628-45024738	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

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:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B2M-1	chr15:45023561-45025045	ENSG00000249340
2	lnc-B2M-1	chr15:45023561-45026170	NONHSAT042189

No data

Variant related genes	Relation type
TRIM69	TF binding region
ENSG00000185880	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10163110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444818	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1137516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11634059	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11634063	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11639157	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12912870	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1630168	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1669833	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1690313	0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16974543	1.00[CEU][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs1720723	1.00[CEU][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs1720724	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1869125	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1901530	0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1901538	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1993152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1993153	0.99[ASN][1000 genomes]
rs2084835	1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs2167595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468067	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470908	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470913	0.83[AFR][1000 genomes]
rs2960206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3100140	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3100141	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3110677	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4923989	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4923990	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923991	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62024991	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62025968	0.94[EUR][1000 genomes]
rs62025969	0.91[EUR][1000 genomes]
rs6416439	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416440	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493112	0.99[ASN][1000 genomes]
rs6493116	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493119	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493124	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493126	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493127	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs6493128	0.94[EUR][1000 genomes]
rs7151	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165535	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs7168090	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172357	0.94[EUR][1000 genomes]
rs7172376	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7496437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7496559	0.87[EUR][1000 genomes]
rs7497862	0.83[ASN][1000 genomes]
rs8035787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038532	0.91[EUR][1000 genomes]
rs935885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935889	0.80[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6493114	TRIM69	cis	lymphoblastoid	seeQTL
rs6493114	METT5D1	trans	lymphoblastoid	seeQTL

Chromatin state (count:100 , 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	chr15:45022400-45026200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:45022400-45026800	Weak transcription	K562	blood
7	chr15:45022400-45027800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr15:45022400-45027800	Weak transcription	Placenta	Placenta
9	chr15:45022400-45028000	Weak transcription	Psoas Muscle	Psoas
10	chr15:45022600-45027200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:45022600-45028000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:45022600-45028800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:45022800-45026000	Weak transcription	NHEK	skin
14	chr15:45022800-45028000	Weak transcription	Fetal Kidney	kidney
15	chr15:45022800-45030800	Weak transcription	HUVEC	blood vessel
16	chr15:45023000-45026800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:45023000-45027000	Weak transcription	Brain Substantia Nigra	brain
18	chr15:45023000-45027000	Weak transcription	NHDF-Ad	bronchial
19	chr15:45023000-45027200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:45023000-45027200	Weak transcription	NHLF	lung
21	chr15:45023000-45027600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:45023000-45028000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr15:45023200-45027200	Weak transcription	Fetal Intestine Small	intestine
24	chr15:45023200-45027800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:45023400-45027200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:45023600-45024800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
27	chr15:45023600-45024800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr15:45023600-45024800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:45023600-45024800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:45023600-45024800	Strong transcription	Fetal Thymus	thymus
31	chr15:45023600-45025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:45023600-45025000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:45023600-45025000	Strong transcription	Fetal Muscle Leg	muscle
34	chr15:45023600-45025000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
35	chr15:45023600-45025200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:45023600-45025600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:45023800-45024800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:45023800-45024800	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr15:45023800-45024800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:45023800-45024800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:45023800-45024800	Genic enhancers	Duodenum Mucosa	Duodenum
42	chr15:45023800-45024800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:45023800-45024800	Genic enhancers	Spleen	Spleen
44	chr15:45023800-45024800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr15:45023800-45025000	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr15:45023800-45025000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:45023800-45025000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:45023800-45025000	Genic enhancers	Brain Angular Gyrus	brain
49	chr15:45023800-45025000	Strong transcription	Brain Cingulate Gyrus	brain
50	chr15:45023800-45025000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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