Variant report

Variant	rs73950814
Chromosome Location	chr18:39536116-39536117
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	POLR2A	chr18:39534865-39536449	PBDE	blood:	n/a	n/a
2	MYC	chr18:39534607-39536327	K562	blood:	n/a	chr18:39535370-39535379 chr18:39535066-39535076 chr18:39535767-39535777
3	MYC	chr18:39534833-39536229	MCF10A-Er-Src	breast:	n/a	chr18:39535370-39535379 chr18:39535066-39535076 chr18:39535767-39535777
4	EP300	chr18:39534561-39536421	K562	blood:	n/a	chr18:39535342-39535355 chr18:39535161-39535168
5	TBL1XR1	chr18:39534400-39537224	K562	blood:	n/a	n/a
6	ELK1	chr18:39534579-39536143	K562	blood:	n/a	chr18:39535160-39535169 chr18:39535160-39535169
7	POLR2A	chr18:39534733-39536331	K562	blood:	n/a	n/a
8	IRF1	chr18:39534564-39536718	K562	blood:	n/a	chr18:39534753-39534766 chr18:39535871-39535884 chr18:39534899-39534915 chr18:39535150-39535164 chr18:39534755-39534765
9	CUX1	chr18:39534332-39536769	K562	blood:	n/a	n/a
10	ZNF384	chr18:39534282-39536574	K562	blood:	n/a	n/a
11	POLR2A	chr18:39534778-39536381	MCF10A-Er-Src	breast:	n/a	n/a
12	RFX5	chr18:39535650-39536248	K562	blood:	n/a	n/a
13	POLR2A	chr18:39534844-39536908	IMR90	lung:	n/a	n/a
14	JUND	chr18:39534387-39536376	K562	blood:	n/a	n/a
15	POLR2A	chr18:39534842-39536321	GM12878	blood:	n/a	n/a
16	POLR2A	chr18:39534595-39539390	K562	blood:	n/a	n/a
17	RCOR1	chr18:39534569-39536158	K562	blood:	n/a	n/a
18	MAFK	chr18:39534534-39536397	K562	blood:	n/a	n/a
19	BHLHE40	chr18:39534558-39536143	K562	blood:	n/a	n/a
20	MXI1	chr18:39534318-39536261	SK-N-SH	brain:	n/a	n/a
21	IRF1	chr18:39534539-39536410	K562	blood:	n/a	chr18:39534753-39534766 chr18:39535871-39535884 chr18:39534899-39534915 chr18:39535150-39535164 chr18:39534755-39534765
22	POLR2A	chr18:39535003-39536194	Hela-S3	cervix:	n/a	n/a
23	ZMIZ1	chr18:39534588-39536377	K562	blood:	n/a	n/a

Variant related genes	Relation type
PIK3C3	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1142044	1.00[EUR][1000 genomes]
rs11873469	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11873602	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874766	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874775	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874814	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874830	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11876547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11876578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11877901	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1540057	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975441	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975447	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975463	1.00[EUR][1000 genomes]
rs16975466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2469471	1.00[EUR][1000 genomes]
rs490578	1.00[EUR][1000 genomes]
rs493100	1.00[EUR][1000 genomes]
rs525369	1.00[EUR][1000 genomes]
rs542870	1.00[EUR][1000 genomes]
rs55655849	1.00[EUR][1000 genomes]
rs563840	1.00[EUR][1000 genomes]
rs56411890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56751463	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56979511	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57208863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575366	1.00[EUR][1000 genomes]
rs58298297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs583163	1.00[EUR][1000 genomes]
rs58390786	1.00[EUR][1000 genomes]
rs584022	1.00[EUR][1000 genomes]
rs586797	1.00[EUR][1000 genomes]
rs58881642	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs591870	1.00[EUR][1000 genomes]
rs593689	1.00[EUR][1000 genomes]
rs606366	1.00[EUR][1000 genomes]
rs608428	1.00[EUR][1000 genomes]
rs61095714	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs616575	1.00[EUR][1000 genomes]
rs633541	1.00[EUR][1000 genomes]
rs635560	1.00[EUR][1000 genomes]
rs640064	1.00[EUR][1000 genomes]
rs640460	1.00[EUR][1000 genomes]
rs643772	1.00[EUR][1000 genomes]
rs645148	1.00[EUR][1000 genomes]
rs647084	1.00[EUR][1000 genomes]
rs6507453	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6507454	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655693	1.00[EUR][1000 genomes]
rs659950	1.00[EUR][1000 genomes]
rs6650669	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669235	1.00[EUR][1000 genomes]
rs670429	1.00[EUR][1000 genomes]
rs674380	1.00[EUR][1000 genomes]
rs684091	1.00[EUR][1000 genomes]
rs7229485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237185	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7238919	1.00[EUR][1000 genomes]
rs7239880	1.00[EUR][1000 genomes]
rs7240066	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7241399	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242077	1.00[EUR][1000 genomes]
rs7245131	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7343027	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73448558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73452235	1.00[EUR][1000 genomes]
rs73452297	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73452300	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73453013	1.00[EUR][1000 genomes]
rs73454552	1.00[EUR][1000 genomes]
rs73454573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454580	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454581	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084037	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085708	1.00[EUR][1000 genomes]
rs8088187	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8089142	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8090403	1.00[EUR][1000 genomes]
rs8095945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9948650	1.00[EUR][1000 genomes]
rs9965647	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39534400-39536200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr18:39534400-39537000	Active TSS	K562	blood
3	chr18:39534600-39536200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr18:39534600-39536200	Active TSS	Fetal Intestine Large	intestine
5	chr18:39534600-39536200	Active TSS	Fetal Intestine Small	intestine
6	chr18:39534600-39536200	Active TSS	Fetal Kidney	kidney
7	chr18:39534600-39536200	Active TSS	Fetal Muscle Leg	muscle
8	chr18:39534600-39536200	Active TSS	Right Ventricle	heart
9	chr18:39534600-39536400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr18:39534600-39536400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:39534600-39536400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:39534600-39536400	Active TSS	Stomach Smooth Muscle	stomach
13	chr18:39534600-39536600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr18:39534600-39536600	Active TSS	Ovary	ovary
15	chr18:39534600-39536600	Active TSS	Psoas Muscle	Psoas
16	chr18:39534600-39536600	Active TSS	Hela-S3	cervix
17	chr18:39534600-39536800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr18:39534600-39536800	Active TSS	Aorta	Aorta
19	chr18:39534600-39536800	Active TSS	Right Atrium	heart
20	chr18:39534600-39536800	Active TSS	HMEC	breast
21	chr18:39534600-39537200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:39534600-39537400	Active TSS	GM12878-XiMat	blood
23	chr18:39534800-39536200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr18:39534800-39536200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:39534800-39536200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr18:39534800-39536200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:39534800-39536200	Active TSS	Colonic Mucosa	Colon
28	chr18:39534800-39536200	Active TSS	Fetal Muscle Trunk	muscle
29	chr18:39534800-39536200	Active TSS	Fetal Thymus	thymus
30	chr18:39534800-39536200	Active TSS	HSMMtube	muscle
31	chr18:39534800-39536400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr18:39534800-39536400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr18:39534800-39536400	Active TSS	A549	lung
34	chr18:39534800-39536400	Active TSS	HSMM	muscle
35	chr18:39534800-39536600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:39534800-39536600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:39534800-39536600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr18:39534800-39536600	Active TSS	NHDF-Ad	bronchial
39	chr18:39535000-39536200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr18:39535000-39536200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr18:39535000-39536200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:39535000-39536800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr18:39535200-39536200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr18:39535200-39536200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:39535200-39536200	Bivalent/Poised TSS	HepG2	liver
46	chr18:39535400-39536200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr18:39535400-39536800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr18:39535600-39536200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr18:39535600-39536200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr18:39535600-39536400	Flanking Active TSS	Primary B cells from cord blood	blood

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