Variant report

Variant	rs10786369
Chromosome Location	chr10:99497798-99497799
allele	G/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	FOXA1	chr10:99497526-99497849	T-47D	breast:	n/a	n/a
2	BCL3	chr10:99496279-99497847	A549	lung:	n/a	chr10:99497145-99497158
3	BATF	chr10:99497587-99497945	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:99497630-99497884	GM12878	blood:	n/a	n/a
5	SMARCB1	chr10:99496580-99497822	Hela-S3	cervix:	n/a	n/a
6	TFAP2C	chr10:99496501-99497920	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr10:99496526-99497833	PBDE	blood:	n/a	n/a
8	POLR2A	chr10:99496548-99497946	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr10:99496462-99497908	K562	blood:	n/a	n/a
10	POLR2A	chr10:99496349-99497984	GM12891	blood:	n/a	n/a
11	POLR2A	chr10:99496370-99497839	GM19193	blood:	n/a	n/a
12	POLR2A	chr10:99496430-99497814	Hela-S3	cervix:	n/a	n/a
13	MAX	chr10:99496375-99497799	Hela-S3	cervix:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
14	POLR2A	chr10:99496615-99497915	GM12892	blood:	n/a	n/a
15	POLR2A	chr10:99496726-99497943	IMR90	lung:	n/a	n/a
16	POLR2A	chr10:99496061-99497907	GM18505	blood:	n/a	n/a
17	REST	chr10:99496242-99497909	H1-neurons	neurons:	n/a	chr10:99496827-99496840
18	POLR2A	chr10:99496497-99497915	GM12892	blood:	n/a	n/a
19	POLR2A	chr10:99496442-99498064	GM12892	blood:	n/a	n/a
20	KAP1	chr10:99496323-99497844	HEK293	kidney:	n/a	n/a
21	POLR2A	chr10:99496061-99498169	GM12891	blood:	n/a	n/a
22	POLR2A	chr10:99496268-99498505	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:99496229-99497881	GM12891	blood:	n/a	n/a
24	POLR2A	chr10:99496546-99498081	MCF10A-Er-Src	breast:	n/a	n/a
25	SMARCC1	chr10:99496361-99497882	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr10:99496477-99497936	GM12878	blood:	n/a	n/a
27	SIN3A	chr10:99496591-99497799	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr10:99496550-99497943	K562	blood:	n/a	n/a
29	MYC	chr10:99496417-99497853	K562	blood:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
30	POLR2A	chr10:99496312-99497976	H1-hESC	embryonic stem cell:	n/a	n/a
31	HCFC1	chr10:99495523-99497873	Hela-S3	cervix:	n/a	n/a
32	ZNF263	chr10:99496345-99497928	HEK293-T-REx	kidney:	n/a	chr10:99497600-99497621
33	TCF12	chr10:99496190-99497848	A549	lung:	n/a	n/a
34	POLR2A	chr10:99496568-99497956	HepG2	liver:	n/a	n/a
35	POLR2A	chr10:99496779-99497930	HepG2	liver:	n/a	n/a
36	POLR2A	chr10:99496308-99497925	Hela-S3	cervix:	n/a	n/a
37	TCF12	chr10:99496239-99497802	ECC-1	luminal epithelium:	n/a	n/a
38	JUN	chr10:99496361-99497892	K562	blood:	n/a	chr10:99496856-99496865 chr10:99496852-99496865
39	CREB1	chr10:99496402-99497825	HepG2	liver:	n/a	chr10:99496854-99496867
40	POLR2A	chr10:99496554-99497847	GM12892	blood:	n/a	n/a
41	POLR2A	chr10:99496643-99498018	GM12878	blood:	n/a	n/a
42	POLR2A	chr10:99496610-99497880	H1-hESC	embryonic stem cell:	n/a	n/a
43	SIN3AK20	chr10:99496323-99497900	MCF-7	breast:	n/a	n/a
44	POLR2A	chr10:99497724-99497976	K562	blood:	n/a	n/a
45	POLR2A	chr10:99496406-99497818	HepG2	liver:	n/a	n/a
46	WRNIP1	chr10:99497346-99498015	GM12878	blood:	n/a	n/a
47	PML	chr10:99496195-99497866	GM12878	blood:	n/a	n/a
48	POLR2A	chr10:99496331-99497900	Hela-S3	cervix:	n/a	n/a
49	MAX	chr10:99496241-99497901	HepG2	liver:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
50	POLR2A	chr10:99496388-99497862	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99446145..99449629-chr10:99495749..99499452,3	K562	blood:
2	chr10:99496214..99498358-chr10:99509556..99512391,2	K562	blood:
3	chr10:99472472..99476089-chr10:99494153..99498366,9	MCF-7	breast:
4	chr10:99472128..99477527-chr10:99495091..99498402,11	MCF-7	breast:
5	chr10:99446264..99449966-chr10:99495266..99498485,3	MCF-7	breast:
6	chr10:99496988..99498940-chr10:99509067..99511500,2	MCF-7	breast:

Variant related genes	Relation type
ZFYVE27	TF binding region
ENSG00000119986	Chromatin interaction
ENSG00000155254	Chromatin interaction
ENSG00000155256	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10786368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1253023	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3818876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593946	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4917783	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4917784	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4917785	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7076831	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs946779	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs946780	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10786369	MARVELD1	cis	lung	GTEx
rs10786369	MARVELD1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99496400-99497800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:99496400-99498000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:99496400-99498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:99496600-99497800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:99496600-99497800	Active TSS	Colon Smooth Muscle	Colon
6	chr10:99496600-99497800	Active TSS	Psoas Muscle	Psoas
7	chr10:99496600-99497800	Active TSS	A549	lung
8	chr10:99496600-99498000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr10:99496600-99498200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:99496800-99497800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:99496800-99497800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr10:99496800-99497800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:99496800-99497800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:99496800-99497800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:99496800-99497800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:99496800-99497800	Active TSS	Aorta	Aorta
17	chr10:99496800-99497800	Active TSS	Gastric	stomach
18	chr10:99496800-99497800	Active TSS	Lung	lung
19	chr10:99496800-99497800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr10:99496800-99497800	Active TSS	Small Intestine	intestine
21	chr10:99496800-99497800	Active TSS	HMEC	breast
22	chr10:99496800-99498000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr10:99496800-99498000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:99496800-99498000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr10:99496800-99498000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:99496800-99498000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:99496800-99498000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr10:99496800-99498000	Active TSS	Ovary	ovary
29	chr10:99496800-99498000	Active TSS	GM12878-XiMat	blood
30	chr10:99496800-99498200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:99496800-99498200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr10:99496800-99498200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr10:99496800-99498600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:99497000-99497800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr10:99497000-99497800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:99497200-99498000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr10:99497200-99498000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr10:99497200-99498000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr10:99497200-99498000	Flanking Active TSS	Esophagus	oesophagus
40	chr10:99497200-99498000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr10:99497200-99498200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:99497200-99498200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:99497200-99498200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr10:99497200-99498400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr10:99497200-99498400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr10:99497200-99498600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:99497200-99498600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr10:99497400-99497800	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr10:99497400-99497800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:99497400-99497800	Flanking Active TSS	Fetal Heart	heart

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