Variant report

Variant	rs4917783
Chromosome Location	chr10:99497224-99497225
allele	C/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	MYC	chr10:99497164-99497281	GM12878	blood:	n/a	n/a
2	MYC	chr10:99496517-99497377	MCF-7	breast:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
3	POLR2A	chr10:99496137-99497519	Raji	blood:	n/a	n/a
4	ELK1	chr10:99496540-99497335	Hela-S3	cervix:	n/a	n/a
5	BCL3	chr10:99496279-99497847	A549	lung:	n/a	chr10:99497145-99497158
6	TCF7L2	chr10:99496596-99497778	Hela-S3	cervix:	n/a	n/a
7	MAX	chr10:99496288-99497454	GM12878	blood:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
8	CTCF	chr10:99497080-99497230	HRE	kidney:	n/a	chr10:99497146-99497159
9	POLR2A	chr10:99496584-99497354	K562	blood:	n/a	n/a
10	HNF4A	chr10:99497211-99497629	HepG2	liver:	n/a	chr10:99497474-99497486 chr10:99497472-99497487 chr10:99497472-99497487 chr10:99497472-99497487 chr10:99497474-99497486 chr10:99497306-99497328 chr10:99497472-99497487 chr10:99497472-99497487
11	STAT5A	chr10:99496253-99497764	GM12878	blood:	n/a	n/a
12	KAP1	chr10:99496490-99497508	U2OS	brain:	n/a	n/a
13	MYC	chr10:99497165-99497612	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:99496359-99497476	GM12878	blood:	n/a	n/a
15	HEY1	chr10:99496574-99497628	HepG2	liver:	n/a	chr10:99496857-99496866 chr10:99496855-99496864
16	E2F6	chr10:99497033-99497241	K562	blood:	n/a	n/a
17	REST	chr10:99496527-99497306	HepG2	liver:	n/a	chr10:99496827-99496840
18	RUNX3	chr10:99496510-99497418	GM12878	blood:	n/a	n/a
19	EGR1	chr10:99496336-99497778	HCT-116	colon:	n/a	chr10:99497439-99497454 chr10:99496522-99496546 chr10:99496824-99496839 chr10:99497440-99497453 chr10:99497440-99497453 chr10:99496789-99496798
20	POLR2A	chr10:99496313-99497771	GM12878	blood:	n/a	n/a
21	MYC	chr10:99496353-99497545	NB4	blood:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
22	SMARCB1	chr10:99496580-99497822	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr10:99496515-99497663	MCF-7	breast:	n/a	n/a
24	POLR2A	chr10:99496517-99497313	HCT-116	colon:	n/a	n/a
25	MYC	chr10:99496488-99497246	MCF10A-Er-Src	breast:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
26	EGR1	chr10:99496508-99497606	MCF-7	breast:	n/a	chr10:99497439-99497454 chr10:99496522-99496546 chr10:99496824-99496839 chr10:99497440-99497453 chr10:99497440-99497453 chr10:99496789-99496798
27	MYC	chr10:99496364-99497349	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
28	ELF1	chr10:99496587-99497273	K562	blood:	n/a	n/a
29	RFX5	chr10:99496614-99497225	HepG2	liver:	n/a	n/a
30	TFAP2C	chr10:99496501-99497920	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr10:99496575-99497749	K562	blood:	n/a	n/a
32	ELF1	chr10:99496330-99497788	MCF-7	breast:	n/a	n/a
33	BCLAF1	chr10:99496464-99497644	GM12878	blood:	n/a	chr10:99497145-99497158
34	POLR2A	chr10:99496526-99497833	PBDE	blood:	n/a	n/a
35	MTA3	chr10:99497203-99497762	GM12878	blood:	n/a	n/a
36	CHD2	chr10:99496360-99497560	GM12878	blood:	n/a	n/a
37	MAX	chr10:99496287-99497409	H1-hESC	embryonic stem cell:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
38	POLR2A	chr10:99496513-99497316	MCF-7	breast:	n/a	n/a
39	RELA	chr10:99496385-99497747	GM18951	blood:	n/a	n/a
40	YY1	chr10:99496612-99497341	ECC-1	luminal epithelium:	n/a	chr10:99497221-99497235 chr10:99497146-99497160 chr10:99497143-99497154
41	JUND	chr10:99496474-99497749	GM12878	blood:	n/a	chr10:99496856-99496865
42	MAX	chr10:99496200-99497323	A549	lung:	n/a	chr10:99496699-99496710 chr10:99496698-99496708 chr10:99496698-99496711 chr10:99496698-99496711 chr10:99496700-99496709 chr10:99496696-99496711 chr10:99496699-99496710
43	CCNT2	chr10:99496694-99497368	K562	blood:	n/a	n/a
44	POLR2A	chr10:99496548-99497946	MCF10A-Er-Src	breast:	n/a	n/a
45	TAF1	chr10:99496474-99497339	A549	lung:	n/a	n/a
46	POLR2A	chr10:99496547-99497274	K562	blood:	n/a	n/a
47	POLR2A	chr10:99496549-99497286	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr10:99496462-99497908	K562	blood:	n/a	n/a
49	POLR2A	chr10:99496349-99497984	GM12891	blood:	n/a	n/a
50	ELF1	chr10:99496353-99497261	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99446145..99449629-chr10:99495749..99499452,3	K562	blood:
2	chr10:99496914..99497435-chr19:39137923..39138480,2	NB4	blood:
3	chr10:99496905..99497501-chr11:67888548..67889429,2	Hela-S3	cervix:
4	chr10:99496757..99497468-chr19:56825581..56826247,2	Hela-S3	cervix:
5	chr10:99496214..99498358-chr10:99509556..99512391,2	K562	blood:
6	chr10:99445750..99450066-chr10:99494053..99497713,5	MCF-7	breast:
7	chr10:99496705..99497402-chr22:41842559..41843318,2	Hela-S3	cervix:
8	chr10:99472472..99476089-chr10:99494153..99498366,9	MCF-7	breast:
9	chr10:99471547..99474270-chr10:99495747..99497533,2	K562	blood:
10	chr10:99472128..99477527-chr10:99495091..99498402,11	MCF-7	breast:
11	chr10:99446264..99449966-chr10:99495266..99498485,3	MCF-7	breast:
12	chr10:99496988..99498940-chr10:99509067..99511500,2	MCF-7	breast:
13	chr10:99256761..99259494-chr10:99495841..99497583,3	K562	blood:
14	chr10:99496699..99497457-chr17:8113348..8113895,2	NB4	blood:

Variant related genes	Relation type
ZFYVE27	TF binding region
ENSG00000130402	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000155254	Chromatin interaction
ENSG00000119986	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000155256	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000178999	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000183864	Chromatin interaction
ENSG00000267549	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10786368	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10786369	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1253023	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3818876	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4593946	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4917784	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4917785	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7076831	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs946779	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs946780	0.90[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4917783	MARVELD1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99496200-99497600	Active TSS	Brain Hippocampus Middle	brain
2	chr10:99496400-99497400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:99496400-99497400	Active TSS	Fetal Lung	lung
4	chr10:99496400-99497400	Active TSS	Rectal Smooth Muscle	rectum
5	chr10:99496400-99497600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:99496400-99497600	Active TSS	Brain Germinal Matrix	brain
7	chr10:99496400-99497600	Active TSS	Colonic Mucosa	Colon
8	chr10:99496400-99497600	Active TSS	Fetal Brain Female	brain
9	chr10:99496400-99497600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr10:99496400-99497600	Active TSS	Thymus	Thymus
11	chr10:99496400-99497600	Active TSS	HSMMtube	muscle
12	chr10:99496400-99497800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:99496400-99498000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:99496400-99498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:99496600-99497400	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr10:99496600-99497400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
17	chr10:99496600-99497600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:99496600-99497600	Active TSS	Primary T cells from cord blood	blood
19	chr10:99496600-99497600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:99496600-99497600	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr10:99496600-99497600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:99496600-99497600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:99496600-99497600	Active TSS	Brain Anterior Caudate	brain
24	chr10:99496600-99497600	Active TSS	Brain Cingulate Gyrus	brain
25	chr10:99496600-99497600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:99496600-99497600	Active TSS	Brain Substantia Nigra	brain
27	chr10:99496600-99497600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr10:99496600-99497600	Active TSS	Fetal Kidney	kidney
29	chr10:99496600-99497600	Active TSS	Right Atrium	heart
30	chr10:99496600-99497600	Active TSS	HSMM	muscle
31	chr10:99496600-99497600	Active TSS	NHLF	lung
32	chr10:99496600-99497800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:99496600-99497800	Active TSS	Colon Smooth Muscle	Colon
34	chr10:99496600-99497800	Active TSS	Psoas Muscle	Psoas
35	chr10:99496600-99497800	Active TSS	A549	lung
36	chr10:99496600-99498000	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr10:99496600-99498200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr10:99496800-99497400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:99496800-99497400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:99496800-99497400	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr10:99496800-99497400	Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr10:99496800-99497400	Active TSS	Primary B cells from peripheral blood	blood
43	chr10:99496800-99497400	Active TSS	Primary T cells fromperipheralblood	blood
44	chr10:99496800-99497400	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr10:99496800-99497400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr10:99496800-99497400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:99496800-99497400	Active TSS	Adipose Nuclei	Adipose
48	chr10:99496800-99497400	Active TSS	Brain Angular Gyrus	brain
49	chr10:99496800-99497400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr10:99496800-99497400	Active TSS	Fetal Brain Male	brain

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