Variant report

Variant	rs3807386
Chromosome Location	chr7:150924957-150924958
allele	A/C
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	TCF12	chr7:150923703-150924976	A549	lung:	n/a	n/a
2	POLR2A	chr7:150924009-150924991	GM12878	blood:	n/a	n/a
3	MTA3	chr7:150923608-150924979	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:150923893-150925071	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:150923848-150925013	HUVEC	blood vessel:	n/a	n/a
6	CREB1	chr7:150923893-150925164	GM12878	blood:	n/a	chr7:150924451-150924464
7	MAX	chr7:150923603-150925005	K562	blood:	n/a	chr7:150924483-150924493 chr7:150923705-150923715
8	RELA	chr7:150924123-150925012	GM19099	blood:	n/a	n/a
9	POLR2A	chr7:150923979-150925002	ProgFib	skin:	n/a	n/a
10	POLR2A	chr7:150923899-150925399	SK-N-SH	brain:	n/a	n/a
11	RCOR1	chr7:150924231-150925213	GM12878	blood:	n/a	n/a
12	MAX	chr7:150923742-150925010	A549	lung:	n/a	chr7:150924483-150924493
13	POLR2A	chr7:150923863-150924983	PFSK-1	brain:	n/a	n/a
14	MAZ	chr7:150922797-150925153	IMR90	lung:	n/a	chr7:150924483-150924493 chr7:150923705-150923715
15	YY1	chr7:150924094-150925068	SK-N-SH_RA	brain:	n/a	chr7:150924946-150924957
16	POLR2A	chr7:150924354-150925036	SK-N-SH	brain:	n/a	n/a
17	TAF1	chr7:150923955-150924986	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3A	chr7:150923508-150925119	H1-hESC	embryonic stem cell:	n/a	chr7:150924769-150924782
19	CREB1	chr7:150923699-150924962	K562	blood:	n/a	chr7:150924451-150924464
20	ELF1	chr7:150923602-150924973	GM12878	blood:	n/a	chr7:150924175-150924186
21	TEAD4	chr7:150924083-150925012	K562	blood:	n/a	n/a
22	CREB1	chr7:150923833-150924988	HepG2	liver:	n/a	chr7:150924451-150924464
23	TAF1	chr7:150923988-150925087	A549	lung:	n/a	n/a
24	PML	chr7:150924015-150924973	K562	blood:	n/a	n/a
25	SREBP1	chr7:150923672-150925852	GM12878	blood:	n/a	n/a
26	TCF12	chr7:150923910-150925025	ECC-1	luminal epithelium:	n/a	n/a
27	NR2F2	chr7:150923529-150925011	K562	blood:	n/a	n/a
28	POLR2A	chr7:150924007-150925091	U87	brain:	n/a	n/a
29	POLR2A	chr7:150923631-150925622	SK-N-MC	brain:	n/a	n/a
30	GATA3	chr7:150924056-150924957	MCF-7	breast:	n/a	chr7:150924130-150924138
31	SIX5	chr7:150923834-150925041	A549	lung:	n/a	chr7:150924680-150924689 chr7:150924678-150924692 chr7:150924369-150924378 chr7:150924224-150924233 chr7:150924682-150924691
32	RCOR1	chr7:150923936-150925146	K562	blood:	n/a	n/a
33	RCOR1	chr7:150924071-150925146	K562	blood:	n/a	n/a
34	MAZ	chr7:150923892-150924962	K562	blood:	n/a	chr7:150924483-150924493
35	ZBTB33	chr7:150924090-150924999	SK-N-SH	brain:	n/a	chr7:150924440-150924450
36	POLR2A	chr7:150923840-150925009	U87	brain:	n/a	n/a
37	PML	chr7:150923868-150925041	GM12878	blood:	n/a	n/a
38	HCFC1	chr7:150923244-150925446	Hela-S3	cervix:	n/a	n/a
39	EP300	chr7:150924112-150925117	K562	blood:	n/a	n/a
40	MYC	chr7:150923856-150925082	K562	blood:	n/a	chr7:150924483-150924493
41	NFYA	chr7:150923919-150924966	K562	blood:	n/a	chr7:150924317-150924331 chr7:150924316-150924328 chr7:150924319-150924329 chr7:150924317-150924332 chr7:150924317-150924330 chr7:150924317-150924332
42	IRF1	chr7:150924100-150925550	K562	blood:	n/a	chr7:150924319-150924328 chr7:150924484-150924498
43	REST	chr7:150923709-150925178	H1-neurons	neurons:	n/a	chr7:150923805-150923818 chr7:150924769-150924782 chr7:150924665-150924678
44	SMARCB1	chr7:150923677-150924965	Hela-S3	cervix:	n/a	chr7:150924680-150924689 chr7:150924369-150924378
45	POLR2A	chr7:150924039-150925330	GM12891	blood:	n/a	n/a
46	POLR2A	chr7:150923935-150925071	PFSK-1	brain:	n/a	n/a
47	TAF1	chr7:150923970-150925049	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr7:150924820-150924970	HBMEC	blood vessel:	n/a	n/a
49	POLR2A	chr7:150924002-150925171	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr7:150923624-150924969	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150725439..150727092-chr7:150922758..150925738,2	K562	blood:
2	chr7:150100452..150102413-chr7:150924282..150926650,2	K562	blood:
3	chr7:150755192..150758087-chr7:150922401..150925767,3	K562	blood:
4	chr7:150923377..150925570-chr7:151215684..151217252,2	K562	blood:
5	chr7:150923836..150926071-chr7:150936441..150939158,3	MCF-7	breast:
6	chr7:150922541..150925891-chr7:150969834..150974111,4	K562	blood:
7	chr7:150891570..150894014-chr7:150923322..150926505,4	K562	blood:
8	chr17:62502100..62502693-chr7:150924274..150925173,2	HCT-116	colon:
9	chr7:150923495..150927436-chr7:150940006..150942925,4	MCF-7	breast:

Variant related genes	Relation type
ABCF2	TF binding region
CHPF2	TF binding region
ENSG00000243433	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000272661	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000183016	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12538502	0.87[ASN][1000 genomes]
rs2045465	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219229	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs219230	0.82[ASN][1000 genomes]
rs219233	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2252694	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487157	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608289	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608290	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2792431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807387	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726007	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6464133	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6958591	0.84[ASN][1000 genomes]
rs7786030	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv435860	chr7:150923672-150930735	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3807386	ABCF2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150923000-150925200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr7:150923200-150925200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:150923200-150925200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:150923200-150925200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:150923400-150925000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:150923400-150925000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:150923400-150925000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:150923400-150925000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:150923400-150925000	Active TSS	Aorta	Aorta
10	chr7:150923400-150925000	Active TSS	Fetal Kidney	kidney
11	chr7:150923400-150925200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:150923400-150925200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr7:150923400-150925200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr7:150923400-150925200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:150923400-150925200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:150923400-150925200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:150923400-150925200	Active TSS	A549	lung
18	chr7:150923600-150925000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:150923600-150925000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:150923600-150925000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:150923600-150925000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:150923600-150925000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:150923600-150925000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr7:150923600-150925000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:150923600-150925000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:150923600-150925000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:150923600-150925000	Active TSS	Fetal Brain Male	brain
28	chr7:150923600-150925000	Active TSS	Left Ventricle	heart
29	chr7:150923600-150925000	Active TSS	Lung	lung
30	chr7:150923600-150925000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr7:150923600-150925000	Active TSS	Small Intestine	intestine
32	chr7:150923600-150925000	Active TSS	GM12878-XiMat	blood
33	chr7:150923600-150925000	Active TSS	HMEC	breast
34	chr7:150923600-150925000	Active TSS	HSMM	muscle
35	chr7:150923600-150925000	Active TSS	NHDF-Ad	bronchial
36	chr7:150923600-150925000	Active TSS	NHEK	skin
37	chr7:150923600-150925000	Active TSS	NHLF	lung
38	chr7:150923600-150925200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:150923600-150925200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:150923600-150925200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:150923600-150925200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:150923600-150925200	Active TSS	Esophagus	oesophagus
43	chr7:150923600-150925200	Active TSS	Ovary	ovary
44	chr7:150923600-150925200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr7:150923600-150925200	Active TSS	Right Atrium	heart
46	chr7:150923600-150925200	Active TSS	Right Ventricle	heart
47	chr7:150923600-150925200	Active TSS	HepG2	liver
48	chr7:150923600-150925200	Active TSS	HSMMtube	muscle
49	chr7:150923600-150925400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:150923800-150925000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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