Variant report

Variant	rs2045465
Chromosome Location	chr7:150925738-150925739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:150925383-150925916	K562	blood:	n/a	n/a
2	FOXA1	chr7:150925295-150925900	HepG2	liver:	n/a	n/a
3	FOXA1	chr7:150925156-150925833	HepG2	liver:	n/a	n/a
4	FOXA2	chr7:150925287-150925910	A549	lung:	n/a	n/a
5	RCOR1	chr7:150925409-150925758	K562	blood:	n/a	n/a
6	SREBP1	chr7:150923672-150925852	GM12878	blood:	n/a	n/a
7	FOXA1	chr7:150925309-150925891	HepG2	liver:	n/a	n/a
8	CBX3	chr7:150925259-150925946	K562	blood:	n/a	n/a
9	FOXA2	chr7:150925438-150925743	A549	lung:	n/a	n/a
10	MAX	chr7:150925150-150925770	K562	blood:	n/a	n/a
11	TEAD4	chr7:150925049-150925778	K562	blood:	n/a	n/a
12	FOXA1	chr7:150925409-150925739	T-47D	breast:	n/a	n/a
13	FOXA1	chr7:150925420-150925829	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150725439..150727092-chr7:150922758..150925738,2	K562	blood:
2	chr7:150891632..150894421-chr7:150925445..150927077,2	MCF-7	breast:
3	chr7:150100452..150102413-chr7:150924282..150926650,2	K562	blood:
4	chr7:150755192..150758087-chr7:150922401..150925767,3	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	chr7:150923495..150927436-chr7:150940006..150942925,4	MCF-7	breast:

No data

Variant related genes	Relation type
CHPF2	TF binding region
ABCF2	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000243433	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000272661	Chromatin interaction
ENSG00000196456	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]
rs219229	0.90[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	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2252694	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487157	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608289	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608290	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2792431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807386	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807387	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726007	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6464133	0.93[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
rs2045465	ABCF2	cis	Thyroid	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150924800-150928800	Weak transcription	Spleen	Spleen
2	chr7:150925000-150925800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr7:150925000-150926000	Enhancers	Stomach Mucosa	stomach
4	chr7:150925000-150929200	Weak transcription	Gastric	stomach
5	chr7:150925200-150925800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:150925200-150928600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:150925200-150928800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:150925200-150928800	Weak transcription	Esophagus	oesophagus
9	chr7:150925200-150929000	Weak transcription	Right Atrium	heart
10	chr7:150925400-150925800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:150925400-150925800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:150925400-150925800	Enhancers	Brain Anterior Caudate	brain
13	chr7:150925400-150925800	Enhancers	Colonic Mucosa	Colon
14	chr7:150925400-150925800	Enhancers	Fetal Intestine Large	intestine
15	chr7:150925400-150925800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:150925400-150925800	Enhancers	NHEK	skin
17	chr7:150925400-150926000	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:150925400-150926000	Enhancers	Fetal Heart	heart
19	chr7:150925400-150926000	Enhancers	Fetal Intestine Small	intestine
20	chr7:150925400-150926000	Enhancers	HepG2	liver
21	chr7:150925400-150927800	Weak transcription	NH-A	brain
22	chr7:150925400-150928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:150925400-150928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:150925400-150928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:150925400-150928600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:150925400-150928600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:150925400-150928600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:150925400-150928600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:150925400-150928600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:150925400-150928600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:150925400-150928600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:150925400-150928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:150925400-150928600	Weak transcription	Brain Germinal Matrix	brain
34	chr7:150925400-150928600	Weak transcription	Brain Substantia Nigra	brain
35	chr7:150925400-150928600	Weak transcription	Fetal Brain Female	brain
36	chr7:150925400-150928600	Weak transcription	Left Ventricle	heart
37	chr7:150925400-150928600	Weak transcription	Right Ventricle	heart
38	chr7:150925400-150928600	Weak transcription	GM12878-XiMat	blood
39	chr7:150925400-150928800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:150925400-150928800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:150925400-150928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:150925400-150928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:150925400-150928800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:150925400-150928800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:150925400-150928800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:150925400-150928800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:150925400-150928800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:150925400-150928800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr7:150925400-150928800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:150925400-150928800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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