Variant report

Variant	rs2805111
Chromosome Location	chr10:51827474-51827475
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	EP300	chr10:51827432-51827876	T-47D	breast:	n/a	chr10:51827806-51827815
2	POLR2A	chr10:51827097-51828430	Hela-S3	cervix:	n/a	n/a
3	MYC	chr10:51827443-51827750	H1-hESC	embryonic stem cell:	n/a	chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827636-51827649 chr10:51827638-51827647 chr10:51827638-51827647 chr10:51827636-51827649
4	SREBP1	chr10:51827301-51827975	GM12878	blood:	n/a	chr10:51827621-51827631 chr10:51827638-51827647 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827637-51827647 chr10:51827638-51827648 chr10:51827652-51827662 chr10:51827653-51827662
5	POLR2A	chr10:51827226-51828338	MCF-7	breast:	n/a	n/a
6	USF2	chr10:51827416-51827929	GM12878	blood:	n/a	chr10:51827636-51827647 chr10:51827620-51827633 chr10:51827652-51827661 chr10:51827638-51827647 chr10:51827651-51827664 chr10:51827620-51827631 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827651-51827662 chr10:51827616-51827637 chr10:51827653-51827662 chr10:51827637-51827646 chr10:51827632-51827653 chr10:51827636-51827649 chr10:51827639-51827648
7	RCOR1	chr10:51827418-51827791	GM12878	blood:	n/a	n/a
8	MAX	chr10:51827447-51827821	MCF-7	breast:	n/a	chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827636-51827649 chr10:51827638-51827647 chr10:51827638-51827647 chr10:51827636-51827649
9	ETS1	chr10:51827456-51827829	K562	blood:	n/a	chr10:51827582-51827592
10	USF1	chr10:51827450-51827829	A549	lung:	n/a	chr10:51827620-51827633 chr10:51827652-51827661 chr10:51827638-51827647 chr10:51827651-51827664 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827616-51827637 chr10:51827653-51827662 chr10:51827637-51827646 chr10:51827632-51827653 chr10:51827636-51827649 chr10:51827639-51827648
11	NR2F2	chr10:51827355-51827862	K562	blood:	n/a	n/a
12	SP1	chr10:51827359-51827781	K562	blood:	n/a	n/a
13	BHLHE40	chr10:51827279-51827863	GM12878	blood:	n/a	chr10:51827620-51827633 chr10:51827652-51827661 chr10:51827638-51827647 chr10:51827651-51827664 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827616-51827637 chr10:51827653-51827662 chr10:51827637-51827646 chr10:51827632-51827653 chr10:51827636-51827649 chr10:51827639-51827648
14	POLR2A	chr10:51827194-51828250	GM12878	blood:	n/a	n/a
15	NFE2	chr10:51827474-51827800	GM12878	blood:	n/a	chr10:51827705-51827715 chr10:51827638-51827647 chr10:51827653-51827662
16	EBF1	chr10:51827204-51827924	GM12878	blood:	n/a	n/a
17	TAF7	chr10:51827379-51827903	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr10:51827179-51827937	A549	lung:	n/a	chr10:51827620-51827633 chr10:51827652-51827661 chr10:51827638-51827647 chr10:51827651-51827664 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827616-51827637 chr10:51827653-51827662 chr10:51827637-51827646 chr10:51827632-51827653 chr10:51827636-51827649 chr10:51827639-51827648
19	YY1	chr10:51827437-51827723	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr10:51827301-51827954	GM19099	blood:	n/a	n/a
21	POLR2A	chr10:51827009-51828458	K562	blood:	n/a	n/a
22	SP1	chr10:51827039-51827888	GM12878	blood:	n/a	n/a
23	USF1	chr10:51827325-51828026	A549	lung:	n/a	chr10:51827620-51827633 chr10:51827652-51827661 chr10:51827638-51827647 chr10:51827651-51827664 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827616-51827637 chr10:51827653-51827662 chr10:51827637-51827646 chr10:51827632-51827653 chr10:51827636-51827649 chr10:51827639-51827648
24	MXI1	chr10:51827469-51827810	Hela-S3	cervix:	n/a	chr10:51827652-51827661
25	REST	chr10:51827448-51827819	SK-N-SH	brain:	n/a	n/a
26	GABPA	chr10:51827212-51827803	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr10:51826895-51828321	HepG2	liver:	n/a	n/a
28	USF1	chr10:51827203-51827821	HepG2	liver:	n/a	chr10:51827620-51827633 chr10:51827652-51827661 chr10:51827638-51827647 chr10:51827651-51827664 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827616-51827637 chr10:51827653-51827662 chr10:51827637-51827646 chr10:51827632-51827653 chr10:51827636-51827649 chr10:51827639-51827648
29	USF1	chr10:51827381-51827900	SK-N-SH_RA	brain:	n/a	chr10:51827620-51827633 chr10:51827652-51827661 chr10:51827638-51827647 chr10:51827651-51827664 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827616-51827637 chr10:51827653-51827662 chr10:51827637-51827646 chr10:51827632-51827653 chr10:51827636-51827649 chr10:51827639-51827648
30	ATF3	chr10:51827461-51827831	A549	lung:	n/a	chr10:51827638-51827647 chr10:51827653-51827662 chr10:51827627-51827647
31	PAX5	chr10:51827267-51828289	GM12878	blood:	n/a	n/a
32	SP1	chr10:51827316-51827799	A549	lung:	n/a	n/a
33	POLR2A	chr10:51826502-51828523	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr10:51827404-51827904	HUVEC	blood vessel:	n/a	n/a
35	TAF1	chr10:51827303-51827938	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:51827384-51827837	GM12878	blood:	n/a	chr10:51827802-51827815
37	JUND	chr10:51827426-51827831	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr10:51827467-51827829	SK-N-SH_RA	brain:	n/a	chr10:51827808-51827822
39	SPI1	chr10:51827414-51827753	GM12878	blood:	n/a	n/a
40	MYC	chr10:51827421-51827849	MCF-7	breast:	n/a	chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827636-51827649 chr10:51827638-51827647 chr10:51827638-51827647 chr10:51827636-51827649
41	RXRA	chr10:51827430-51827748	HepG2	liver:	n/a	n/a
42	POLR2A	chr10:51827238-51828315	A549	lung:	n/a	n/a
43	HEY1	chr10:51827234-51828417	K562	blood:	n/a	n/a
44	POLR2A	chr10:51827421-51827919	GM12878	blood:	n/a	n/a
45	FOXA1	chr10:51827442-51827735	HepG2	liver:	n/a	n/a
46	TRIM28	chr10:51827422-51827866	K562	blood:	n/a	n/a
47	SIN3A	chr10:51827417-51827821	GM12878	blood:	n/a	chr10:51827652-51827661
48	USF1	chr10:51827357-51827835	H1-hESC	embryonic stem cell:	n/a	chr10:51827620-51827633 chr10:51827652-51827661 chr10:51827638-51827647 chr10:51827651-51827664 chr10:51827653-51827662 chr10:51827638-51827647 chr10:51827616-51827637 chr10:51827653-51827662 chr10:51827637-51827646 chr10:51827632-51827653 chr10:51827636-51827649 chr10:51827639-51827648
49	POLR2A	chr10:51827257-51828182	HepG2	liver:	n/a	n/a
50	POLR2A	chr10:51827210-51828385	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
FAM21A	TF binding region
ENSG00000235618	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1072794	0.88[AMR][1000 genomes]
rs12571765	0.82[AMR][1000 genomes]
rs2009551	0.88[AMR][1000 genomes]
rs2338056	0.88[AMR][1000 genomes]
rs3886108	0.86[AMR][1000 genomes]
rs4301736	0.85[AMR][1000 genomes]
rs57052909	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58186870	0.82[AMR][1000 genomes]
rs60293935	0.86[AMR][1000 genomes]
rs60539478	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60965269	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61418463	0.81[AMR][1000 genomes]
rs6481013	0.88[AMR][1000 genomes]
rs7069872	0.88[AMR][1000 genomes]
rs7074294	0.88[AMR][1000 genomes]
rs7088088	0.82[AMR][1000 genomes]
rs7097164	0.88[AMR][1000 genomes]
rs71508040	0.81[AMR][1000 genomes]
rs73315603	0.88[AMR][1000 genomes]
rs74131213	0.81[AMR][1000 genomes]
rs74131214	0.81[AMR][1000 genomes]
rs7894916	0.88[AMR][1000 genomes]
rs7902594	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7905304	0.88[AMR][1000 genomes]
rs7905974	0.88[AMR][1000 genomes]
rs7906068	0.82[AMR][1000 genomes]
rs7915651	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv518071	chr10:51595893-52157935	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv3521278	chr10:51635096-52001994	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3521279	chr10:51635096-52001994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2805111	FAM21A	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51826400-51828600	Active TSS	GM12878-XiMat	blood
2	chr10:51826400-51828800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:51826600-51828400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr10:51826600-51828400	Active TSS	Stomach Smooth Muscle	stomach
5	chr10:51826600-51828600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:51826600-51828600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:51826600-51828600	Active TSS	Rectal Smooth Muscle	rectum
8	chr10:51826600-51828600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr10:51826600-51828800	Active TSS	Duodenum Mucosa	Duodenum
10	chr10:51826600-51828800	Active TSS	Fetal Intestine Small	intestine
11	chr10:51826600-51829000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr10:51826800-51828400	Active TSS	Dnd41	blood
13	chr10:51826800-51828600	Active TSS	Osteobl	bone
14	chr10:51826800-51829400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:51827000-51828200	Active TSS	Primary T cells from cord blood	blood
16	chr10:51827000-51828200	Active TSS	Fetal Thymus	thymus
17	chr10:51827000-51828400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr10:51827000-51828400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr10:51827000-51828400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:51827000-51828400	Active TSS	Liver	Liver
21	chr10:51827000-51828400	Active TSS	Brain Cingulate Gyrus	brain
22	chr10:51827000-51828400	Active TSS	Brain Germinal Matrix	brain
23	chr10:51827000-51828400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr10:51827000-51828400	Active TSS	Fetal Kidney	kidney
25	chr10:51827000-51828400	Active TSS	Fetal Lung	lung
26	chr10:51827000-51828400	Active TSS	Fetal Muscle Trunk	muscle
27	chr10:51827000-51828400	Active TSS	Fetal Muscle Leg	muscle
28	chr10:51827000-51828400	Active TSS	Fetal Stomach	stomach
29	chr10:51827000-51828400	Active TSS	Pancreas	Pancrea
30	chr10:51827000-51828400	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr10:51827000-51828600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr10:51827000-51828600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:51827000-51828600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:51827000-51828600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr10:51827000-51828600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:51827000-51828600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr10:51827000-51828600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr10:51827000-51828600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:51827000-51828600	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr10:51827000-51828600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:51827000-51828600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr10:51827000-51828600	Active TSS	Brain Anterior Caudate	brain
43	chr10:51827000-51828600	Active TSS	Brain Hippocampus Middle	brain
44	chr10:51827000-51828600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr10:51827000-51828600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr10:51827000-51828600	Active TSS	Fetal Intestine Large	intestine
47	chr10:51827000-51828600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr10:51827000-51828600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr10:51827000-51828600	Active TSS	Right Ventricle	heart
50	chr10:51827000-51828600	Active TSS	Thymus	Thymus

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