Variant report

Variant	rs4924575
Chromosome Location	chr15:42096926-42096927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42096535..42097035-chr6:57036895..57037403,2	HCT-116	colon:
2	chr15:42096733..42098481-chr15:42102481..42104605,2	K562	blood:

Variant related genes	Relation type
ENSG00000112208	Chromatin interaction
ENSG00000226803	Chromatin interaction
ENSG00000137802	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1105881	0.92[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1107858	0.96[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs11632424	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635067	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11635415	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12440747	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs12441300	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1531140	0.96[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17676742	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.92[LWK][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap]
rs17677199	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs17677991	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs17678138	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs17678552	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17678767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734856	0.96[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs1918310	0.96[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2241522	0.96[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2277535	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278964	1.00[ASW][hapmap]
rs2303516	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303518	0.92[CEU][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305654	0.88[CEU][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2412641	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577960	0.87[EUR][1000 genomes]
rs28373318	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28401754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28432037	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28451764	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28680296	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28701757	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28754734	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3179542	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3743024	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3959569	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4923905	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs4923910	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923914	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4923915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4923919	0.82[YRI][hapmap]
rs4924570	1.00[ASW][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap]
rs4924576	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924580	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62002090	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62002091	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025714	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs890498	0.91[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs890505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9672298	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs9672360	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs9920903	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1054671	chr15:42016097-42098896	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv2757597	chr15:42047173-42122617	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2760027	chr15:42047173-42122617	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv904113	chr15:42050390-42118971	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription 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 target site	19 gene(s)	inside rSNPs	diseases
6	nsv904114	chr15:42050390-42119900	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv904115	chr15:42076387-42171483	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1038393	chr15:42083574-42188035	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	esv1827003	chr15:42087505-42199076	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
12	esv1816120	chr15:42093384-42171578	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
13	nsv1041645	chr15:42095168-42186482	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
14	nsv1051200	chr15:42095168-42188035	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
15	nsv974563	chr15:42096771-42099742	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv517631	chr15:42096926-42187492	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4924575	JMJD7-PLA2G4B	cis	parietal	SCAN
rs4924575	SPTBN5	cis	cerebellum	SCAN
rs4924575	RPAP1	cis	parietal	SCAN
rs4924575	MAPKBP1	cis	cerebellum	SCAN
rs4924575	C15orf41	cis	cerebellum	SCAN
rs4924575	MGA	cis	lesional skin	skin_eQTL
rs4924575	NDUFAF1	cis	parietal	SCAN
rs4924575	JMJD7-PLA2G4B	cis	cerebellum	SCAN
rs4924575	MGA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42070200-42109800	Weak transcription	Fetal Brain Male	brain
2	chr15:42083600-42104600	Weak transcription	Liver	Liver
3	chr15:42083600-42109200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42083800-42098600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:42083800-42098600	Weak transcription	Pancreas	Pancrea
6	chr15:42083800-42098600	Weak transcription	A549	lung
7	chr15:42083800-42103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr15:42083800-42103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:42083800-42104400	Weak transcription	Colonic Mucosa	Colon
10	chr15:42083800-42105000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:42083800-42119400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:42084000-42098400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:42085200-42097400	Weak transcription	Psoas Muscle	Psoas
14	chr15:42088600-42103000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:42089400-42114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:42090000-42097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:42090000-42109800	Weak transcription	Small Intestine	intestine
18	chr15:42090600-42101600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:42091400-42105400	Weak transcription	HSMMtube	muscle
20	chr15:42091800-42101200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:42092000-42097000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr15:42092000-42097600	Weak transcription	NHLF	lung
23	chr15:42092000-42101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:42092200-42099400	Strong transcription	Fetal Intestine Small	intestine
25	chr15:42092200-42109400	Weak transcription	HepG2	liver
26	chr15:42092400-42097000	Weak transcription	Fetal Heart	heart
27	chr15:42092400-42097800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:42093200-42097000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:42093200-42101600	Weak transcription	Ovary	ovary
30	chr15:42093200-42104800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:42093400-42104000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:42093600-42097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:42093600-42098600	Weak transcription	Left Ventricle	heart
34	chr15:42093600-42099200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:42093600-42100000	Enhancers	HMEC	breast
36	chr15:42093600-42101800	Weak transcription	Adipose Nuclei	Adipose
37	chr15:42093600-42103200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:42093600-42103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:42093600-42104200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr15:42093600-42104200	Weak transcription	Dnd41	blood
41	chr15:42093600-42105200	Weak transcription	Brain Germinal Matrix	brain
42	chr15:42093800-42101400	Weak transcription	HSMM	muscle
43	chr15:42093800-42103400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:42094200-42097000	Weak transcription	Fetal Muscle Leg	muscle
45	chr15:42094200-42098000	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:42094200-42101600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:42094200-42102000	Weak transcription	Primary B cells from cord blood	blood
48	chr15:42094200-42104400	Weak transcription	Fetal Lung	lung
49	chr15:42094200-42104600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr15:42094400-42097400	Weak transcription	Brain Inferior Temporal Lobe	brain

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