Variant report

Variant	rs73451096
Chromosome Location	chr18:39666628-39666629
allele	C/T
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	GATA2	chr18:39665956-39666775	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr18:39666198-39666659	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr18:39666276-39666808	GM12878	blood:	n/a	n/a
4	PBX3	chr18:39666136-39666659	SK-N-SH	brain:	n/a	n/a
5	EP300	chr18:39666213-39666647	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr18:39666589-39666633	ProgFib	skin:	n/a	n/a
7	CTCF	chr18:39666543-39666669	GM12892	blood:	n/a	n/a
8	TCF12	chr18:39666046-39666732	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr18:39666038-39666780	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr18:39665952-39666750	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr18:39666229-39666694	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr18:39666555-39666669	GM19239	blood:	n/a	n/a
13	CTCF	chr18:39666520-39666673	GM12878	blood:	n/a	n/a
14	CTCF	chr18:39666574-39666654	K562	blood:	n/a	n/a
15	JUND	chr18:39666112-39666685	SK-N-SH	brain:	n/a	n/a
16	NFIC	chr18:39666104-39666757	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr18:39666004-39666760	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr18:39666542-39666671	GM19240	blood:	n/a	n/a
19	POLR2A	chr18:39666200-39666673	HUVEC	blood vessel:	n/a	n/a
20	GATA3	chr18:39665919-39666844	SK-N-SH	brain:	n/a	n/a
21	SRF	chr18:39666592-39666717	GM12878	blood:	n/a	n/a
22	FOSL2	chr18:39666145-39666647	SK-N-SH	brain:	n/a	n/a
23	SRF	chr18:39666586-39666687	GM12878	blood:	n/a	n/a
24	EP300	chr18:39666074-39666672	SK-N-SH	brain:	n/a	n/a
25	EP300	chr18:39666169-39666647	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000267088	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1142044	1.00[EUR][1000 genomes]
rs11873469	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11873602	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874766	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874775	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874814	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874830	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11876547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11876578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11877901	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1540057	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975463	1.00[EUR][1000 genomes]
rs16975466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975521	0.81[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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56751463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56979511	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57208863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575366	1.00[EUR][1000 genomes]
rs58298297	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs583163	1.00[EUR][1000 genomes]
rs58390786	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs584022	1.00[EUR][1000 genomes]
rs586797	1.00[EUR][1000 genomes]
rs58881642	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	0.87[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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6507454	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655693	1.00[EUR][1000 genomes]
rs659950	1.00[EUR][1000 genomes]
rs6650669	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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7238919	1.00[EUR][1000 genomes]
rs7239880	1.00[EUR][1000 genomes]
rs7240066	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7241399	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242077	1.00[EUR][1000 genomes]
rs7245131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7343027	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73448558	0.87[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73454602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73950814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084037	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085708	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8088187	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8089142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8090403	1.00[EUR][1000 genomes]
rs8095945	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:14 , 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	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
6	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
7	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
8	nsv1057988	chr18:39618253-39713904	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1065792	chr18:39619676-39711798	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1057790	chr18:39621947-39705550	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv2762006	chr18:39621947-39713916	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv1063952	chr18:39621947-39718600	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv1064973	chr18:39623604-39711798	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv833631	chr18:39633503-39824091	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
3	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:39612200-39669800	Weak transcription	Fetal Stomach	stomach
5	chr18:39612200-39670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:39634800-39674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:39644200-39674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:39648200-39668200	Weak transcription	Brain Angular Gyrus	brain
9	chr18:39649200-39674600	Weak transcription	Fetal Intestine Small	intestine
10	chr18:39653000-39683400	Weak transcription	Aorta	Aorta
11	chr18:39653400-39668000	Weak transcription	Pancreas	Pancrea
12	chr18:39653600-39669600	Weak transcription	NHLF	lung
13	chr18:39654000-39669600	Weak transcription	HSMMtube	muscle
14	chr18:39657600-39669600	Weak transcription	Lung	lung
15	chr18:39657800-39668200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:39657800-39669000	Weak transcription	Fetal Brain Female	brain
17	chr18:39659000-39667600	Weak transcription	Colon Smooth Muscle	Colon
18	chr18:39659000-39668800	Weak transcription	Fetal Kidney	kidney
19	chr18:39659400-39667200	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:39659800-39668000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr18:39659800-39668200	Weak transcription	Brain Substantia Nigra	brain
22	chr18:39659800-39668600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr18:39659800-39669400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:39659800-39675400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:39660000-39674400	Weak transcription	Fetal Intestine Large	intestine
26	chr18:39660200-39668000	Weak transcription	Brain Anterior Caudate	brain
27	chr18:39660200-39670000	Weak transcription	Ovary	ovary
28	chr18:39660400-39668000	Weak transcription	Fetal Brain Male	brain
29	chr18:39660800-39667200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:39660800-39669600	Weak transcription	Left Ventricle	heart
31	chr18:39661200-39668200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr18:39661800-39667600	Weak transcription	HMEC	breast
33	chr18:39663200-39668200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:39663200-39668400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:39663200-39669400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:39663200-39675400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr18:39663400-39667800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:39663600-39669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr18:39664000-39667800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr18:39664000-39669600	Weak transcription	Primary T cells from cord blood	blood
41	chr18:39664000-39669800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:39664000-39675000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr18:39664200-39667000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr18:39664200-39673000	Weak transcription	Adipose Nuclei	Adipose
45	chr18:39664400-39670400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:39664800-39669400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:39665000-39667800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr18:39665000-39668600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr18:39665000-39669800	Weak transcription	Primary B cells from cord blood	blood
50	chr18:39665000-39672400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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