Variant report

Variant	rs2792433
Chromosome Location	chr7:150928657-150928658
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	POLR2A	chr7:150928644-150928817	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr7:150928044-150931197	IMR90	lung:	n/a	chr7:150929532-150929547
3	MXI1	chr7:150927964-150931392	SK-N-SH	brain:	n/a	chr7:150929532-150929547
4	GATA1	chr7:150928031-150931664	K562	blood:	n/a	chr7:150930682-150930703 chr7:150930685-150930701
5	HCFC1	chr7:150928265-150930844	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150904819..150907851-chr7:150927889..150929495,3	MCF-7	breast:
2	chr7:150926542..150929326-chr7:151037923..151042316,3	K562	blood:
3	chr7:150928143..150930111-chr7:150944656..150946614,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCF2-2	chr7:150928545-150930322	NONHSAT124201

Variant related genes	Relation type
CHPF2	TF binding region
ABCF2	TF binding region
ENSG00000243018	Chromatin interaction
ENSG00000013374	Chromatin interaction
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12538502	0.85[ASN][1000 genomes]
rs2045465	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs219229	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs219230	0.81[ASN][1000 genomes]
rs219233	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2252694	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2487157	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2608289	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2608290	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2792431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807387	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4726007	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6464133	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6958591	0.83[ASN][1000 genomes]
rs7786030	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2792433	ABCF2	cis	Thyroid	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150924800-150928800	Weak transcription	Spleen	Spleen
2	chr7:150925000-150929200	Weak transcription	Gastric	stomach
3	chr7:150925200-150928800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:150925200-150928800	Weak transcription	Esophagus	oesophagus
5	chr7:150925200-150929000	Weak transcription	Right Atrium	heart
6	chr7:150925400-150928800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:150925400-150928800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:150925400-150928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:150925400-150928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:150925400-150928800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:150925400-150928800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:150925400-150928800	Weak transcription	Primary T cells from cord blood	blood
13	chr7:150925400-150928800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:150925400-150928800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:150925400-150928800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:150925400-150928800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:150925400-150928800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:150925400-150928800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:150925400-150928800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:150925400-150928800	Weak transcription	Fetal Brain Male	brain
21	chr7:150925400-150928800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:150925400-150928800	Weak transcription	Lung	lung
23	chr7:150925400-150928800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:150925400-150928800	Weak transcription	Small Intestine	intestine
25	chr7:150925400-150929000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:150925400-150929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:150925400-150929000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:150925400-150929000	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:150925400-150929000	Weak transcription	Pancreas	Pancrea
30	chr7:150925400-150929000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:150925400-150929000	Weak transcription	Psoas Muscle	Psoas
32	chr7:150925400-150929000	Weak transcription	NHLF	lung
33	chr7:150925400-150929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:150925400-150929200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:150925400-150929200	Weak transcription	Ovary	ovary
36	chr7:150925600-150928800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:150925600-150928800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:150925600-150928800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:150925600-150928800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:150925600-150928800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:150925600-150928800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:150925600-150928800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:150925600-150928800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:150925600-150928800	Weak transcription	Adipose Nuclei	Adipose
45	chr7:150925600-150928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:150925600-150928800	Weak transcription	Fetal Lung	lung
47	chr7:150925600-150928800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:150925600-150928800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:150925600-150928800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:150925600-150928800	Weak transcription	HMEC	breast

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