Variant report

Variant	rs7799818
Chromosome Location	chr7:138145153-138145154
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	YY1	chr7:138144921-138146072	K562	blood:	n/a	chr7:138145674-138145685 chr7:138145237-138145246 chr7:138145240-138145249 chr7:138145667-138145681
2	POLR2A	chr7:138144331-138146101	NB4	blood:	n/a	n/a
3	CREB1	chr7:138144591-138145521	A549	lung:	n/a	n/a
4	ELF1	chr7:138144506-138145257	MCF-7	breast:	n/a	chr7:138145175-138145184 chr7:138145241-138145253 chr7:138144813-138144825
5	FOXP2	chr7:138144940-138145961	PFSK-1	brain:	n/a	n/a
6	ZNF263	chr7:138144994-138146267	HEK293-T-REx	kidney:	n/a	chr7:138145219-138145228 chr7:138145222-138145231
7	POLR2A	chr7:138144413-138146312	GM18526	blood:	n/a	n/a
8	ZBTB7A	chr7:138144873-138146008	K562	blood:	n/a	n/a
9	HMGN3	chr7:138144544-138146210	K562	blood:	n/a	n/a
10	POLR2A	chr7:138144355-138146139	GM19099	blood:	n/a	n/a
11	USF1	chr7:138144922-138145369	ECC-1	luminal epithelium:	n/a	n/a
12	MTA3	chr7:138144862-138145385	GM12878	blood:	n/a	n/a
13	YY1	chr7:138144936-138145376	SK-N-SH_RA	brain:	n/a	chr7:138145237-138145246 chr7:138145240-138145249
14	TAF1	chr7:138144910-138145386	GM12878	blood:	n/a	n/a
15	CTCF	chr7:138145060-138145210	HCPEpiC	choroid plexus:	n/a	n/a
16	POLR2A	chr7:138144865-138146169	HL-60	blood:	n/a	n/a
17	CEBPD	chr7:138144828-138145363	HepG2	liver:	n/a	n/a
18	YY1	chr7:138144946-138146059	GM12892	blood:	n/a	chr7:138145674-138145685 chr7:138145237-138145246 chr7:138145240-138145249 chr7:138145667-138145681
19	TAF1	chr7:138144929-138145232	GM12891	blood:	n/a	n/a
20	MAZ	chr7:138144317-138146262	GM12878	blood:	n/a	chr7:138144774-138144784 chr7:138144854-138144864 chr7:138145703-138145713
21	POLR2A	chr7:138144917-138146170	IMR90	lung:	n/a	n/a
22	THAP1	chr7:138144955-138145334	K562	blood:	n/a	n/a
23	POLR2A	chr7:138144895-138145601	PFSK-1	brain:	n/a	n/a
24	CEBPD	chr7:138144903-138145171	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:138144843-138145370	H1-hESC	embryonic stem cell:	n/a	n/a
26	RUNX3	chr7:138144233-138146264	GM12878	blood:	n/a	n/a
27	YY1	chr7:138144930-138145911	ECC-1	luminal epithelium:	n/a	chr7:138145674-138145685 chr7:138145237-138145246 chr7:138145240-138145249 chr7:138145667-138145681
28	POLR2A	chr7:138144945-138146067	GM12878	blood:	n/a	n/a
29	CTCF	chr7:138145080-138145230	GM12873	blood:	n/a	n/a
30	PBX3	chr7:138144324-138145507	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr7:138144853-138145631	A549	lung:	n/a	n/a
32	POLR2A	chr7:138144385-138146026	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr7:138144915-138146192	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:138143131-138146474	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3AK20	chr7:138144945-138145181	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr7:138144538-138145878	H1-hESC	embryonic stem cell:	n/a	n/a
37	HEY1	chr7:138144822-138146352	K562	blood:	n/a	chr7:138145671-138145686
38	HA-E2F1	chr7:138144505-138146180	MCF-7	breast:	n/a	chr7:138145240-138145249 chr7:138145271-138145281 chr7:138144776-138144785 chr7:138145708-138145722 chr7:138145705-138145714 chr7:138144885-138144894
39	MAZ	chr7:138144441-138145269	HepG2	liver:	n/a	chr7:138144774-138144784 chr7:138144854-138144864
40	POLR2A	chr7:138144334-138146247	K562	blood:	n/a	n/a
41	MAX	chr7:138144405-138146089	NB4	blood:	n/a	chr7:138144774-138144784 chr7:138144854-138144864 chr7:138145703-138145713
42	TAF1	chr7:138144660-138146016	HepG2	liver:	n/a	n/a
43	EP300	chr7:138144442-138145302	SK-N-SH_RA	brain:	n/a	chr7:138145237-138145246 chr7:138145272-138145281 chr7:138144502-138144512
44	REST	chr7:138144874-138145324	SK-N-SH	brain:	n/a	n/a
45	MXI1	chr7:138144387-138146323	GM12878	blood:	n/a	n/a
46	SP1	chr7:138144451-138145287	HepG2	liver:	n/a	chr7:138144640-138144652 chr7:138145214-138145228 chr7:138144775-138144787 chr7:138144776-138144786 chr7:138144853-138144862 chr7:138144852-138144861 chr7:138144775-138144787 chr7:138144776-138144785 chr7:138144776-138144786 chr7:138144851-138144863 chr7:138144640-138144652 chr7:138144740-138144761 chr7:138144852-138144866 chr7:138144641-138144655 chr7:138144775-138144786 chr7:138144641-138144650 chr7:138144772-138144786 chr7:138144777-138144786 chr7:138144851-138144863 chr7:138144777-138144786 chr7:138144642-138144651
47	PAX5	chr7:138144935-138145245	GM12878	blood:	n/a	n/a
48	REST	chr7:138144944-138145977	K562	blood:	n/a	n/a
49	HA-E2F1	chr7:138144678-138146047	Hela-S3	cervix:	n/a	chr7:138145240-138145249 chr7:138145271-138145281 chr7:138144776-138144785 chr7:138145708-138145722 chr7:138145705-138145714 chr7:138144885-138144894
50	POLR2A	chr7:138144846-138146352	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:113862501..113863112-chr7:138144535..138145370,2	Hela-S3	cervix:
2	chr17:74722988..74723715-chr7:138144840..138145706,2	Hela-S3	cervix:
3	chr7:135241103..135243857-chr7:138144835..138146589,2	K562	blood:
4	chr1:11967906..11968470-chr7:138144770..138145628,2	Hela-S3	cervix:
5	chr6:27777294..27779689-chr7:138144779..138146981,2	MCF-7	breast:
6	chr7:138123228..138126392-chr7:138142592..138145835,3	K562	blood:
7	chr14:24610243..24610851-chr7:138145032..138145880,2	Hela-S3	cervix:
8	chr1:117664016..117664630-chr7:138144657..138145587,2	Hela-S3	cervix:
9	chr7:138145066..138146985-chr7:138197776..138200513,2	MCF-7	breast:
10	chr7:138144628..138146925-chr7:138348716..138351288,3	MCF-7	breast:
11	chr1:181057538..181058066-chr7:138144832..138145634,2	Hela-S3	cervix:
12	chr7:138145107..138147351-chr7:148578441..148580863,2	K562	blood:
13	chr7:138143601..138146619-chr7:138166848..138169714,4	K562	blood:
14	chr7:137684812..137687576-chr7:138144415..138146987,3	K562	blood:
15	chr7:137774765..137777637-chr7:138144590..138146200,2	MCF-7	breast:
16	chr7:138145133..138145677-chr9:100684432..100685419,2	Hela-S3	cervix:

Variant related genes	Relation type
TRIM24	TF binding region
ENSG00000203813	Chromatin interaction
ENSG00000157703	Chromatin interaction
ENSG00000214815	Chromatin interaction
ENSG00000155561	Chromatin interaction
ENSG00000222514	Chromatin interaction
ENSG00000106462	Chromatin interaction
ENSG00000182158	Chromatin interaction
ENSG00000126226	Chromatin interaction
ENSG00000122787	Chromatin interaction
ENSG00000122779	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000139842	Chromatin interaction
ENSG00000181038	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000239123	Chromatin interaction
ENSG00000134253	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10272245	0.92[CEU][hapmap]
rs10279876	1.00[ASN][1000 genomes]
rs11761566	0.83[GIH][hapmap];0.90[MEX][hapmap]
rs11763093	1.00[ASN][1000 genomes]
rs11773577	1.00[ASN][1000 genomes]
rs12707387	1.00[ASN][1000 genomes]
rs12707388	1.00[ASN][1000 genomes]
rs13230953	1.00[ASN][1000 genomes]
rs13231375	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs13242427	1.00[ASN][1000 genomes]
rs3213902	0.84[CEU][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap]
rs34718165	1.00[ASN][1000 genomes]
rs35558871	1.00[ASN][1000 genomes]
rs35674497	1.00[ASN][1000 genomes]
rs55918517	1.00[ASN][1000 genomes]
rs6467774	0.85[CEU][hapmap];0.86[AMR][1000 genomes]
rs6467777	1.00[ASN][1000 genomes]
rs6467779	0.84[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs6467781	1.00[ASN][1000 genomes]
rs67586210	1.00[ASN][1000 genomes]
rs6946420	0.84[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap]
rs6970145	1.00[ASN][1000 genomes]
rs7782453	1.00[ASN][1000 genomes]
rs7803989	1.00[ASN][1000 genomes]
rs7811152	0.81[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];1.00[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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3329035	chr7:138144237-138146785	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138143400-138148400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:138143600-138146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:138143600-138146600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr7:138143600-138148000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:138143600-138148000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:138143600-138148000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:138143600-138149000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:138143600-138150200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:138143800-138146400	Active TSS	NH-A	brain
10	chr7:138143800-138147000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:138143800-138147400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:138143800-138148000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:138144000-138145600	Active TSS	Primary B cells from cord blood	blood
14	chr7:138144000-138146400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:138144000-138146400	Active TSS	Brain Anterior Caudate	brain
16	chr7:138144000-138146400	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:138144000-138147400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:138144200-138145400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:138144200-138146000	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr7:138144200-138146000	Active TSS	Primary B cells from peripheral blood	blood
21	chr7:138144200-138146000	Active TSS	Primary T cells fromperipheralblood	blood
22	chr7:138144200-138146000	Active TSS	Primary hematopoietic stem cells	blood
23	chr7:138144200-138146000	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr7:138144200-138146000	Active TSS	Adipose Nuclei	Adipose
25	chr7:138144200-138146000	Active TSS	Brain Angular Gyrus	brain
26	chr7:138144200-138146200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:138144200-138146200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:138144200-138146200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:138144200-138146200	Active TSS	Liver	Liver
30	chr7:138144200-138146200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr7:138144200-138146200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:138144200-138146200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:138144200-138146200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:138144200-138146200	Active TSS	Stomach Smooth Muscle	stomach
35	chr7:138144200-138146200	Active TSS	HMEC	breast
36	chr7:138144200-138146400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:138144200-138146400	Active TSS	Fetal Lung	lung
38	chr7:138144200-138146600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:138144200-138146600	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr7:138144200-138146600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:138144200-138146600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:138144200-138146600	Active TSS	Brain Hippocampus Middle	brain
43	chr7:138144200-138146600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:138144200-138146600	Active TSS	Fetal Muscle Leg	muscle
45	chr7:138144200-138146600	Active TSS	Fetal Thymus	thymus
46	chr7:138144200-138146600	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr7:138144200-138146600	Active TSS	HUVEC	blood vessel
48	chr7:138144200-138146600	Active TSS	K562	blood
49	chr7:138144200-138146600	Active TSS	NHEK	skin
50	chr7:138144200-138146800	Active TSS	Pancreatic Islets	Pancreatic Islet

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