Variant report

Variant	rs921987
Chromosome Location	chr7:150933283-150933284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150933258-150933709	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr7:150933192-150934134	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:150933189-150934027	PFSK-1	brain:	n/a	n/a
4	CTCF	chr7:150933200-150933350	BE2_C	brain:	n/a	n/a
5	POLR2A	chr7:150933132-150933387	A549	lung:	n/a	n/a
6	POLR2A	chr7:150933236-150933911	K562	blood:	n/a	n/a
7	POLR2A	chr7:150932336-150940594	K562	blood:	n/a	n/a
8	POLR2A	chr7:150932457-150941238	U87	brain:	n/a	n/a
9	POLR2A	chr7:150933158-150934233	U87	brain:	n/a	n/a
10	POLR2A	chr7:150933183-150933811	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:150933017-150933855	IMR90	lung:	n/a	n/a
12	POLR2A	chr7:150933198-150933562	K562	blood:	n/a	n/a
13	POLR2A	chr7:150933249-150933890	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:150933192-150935913	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150933071..150935607-chr7:151215540..151217863,2	K562	blood:
2	chr7:150776319..150779502-chr7:150929825..150933736,3	K562	blood:
3	chr7:150930547..150933438-chr7:151037429..151040414,2	MCF-7	breast:
4	chr7:150910425..150912295-chr7:150932793..150934367,2	MCF-7	breast:
5	chr7:150932407..150934552-chr7:151037359..151040324,2	K562	blood:
6	chr7:150775206..150778180-chr7:150932374..150934759,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR671	TF binding region
ENSG00000272661	TF binding region
ENSG00000164896	Chromatin interaction
ENSG00000013374	Chromatin interaction
ENSG00000106615	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1870238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242141	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2256864	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2429248	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2446065	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487152	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2487154	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2487155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608288	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2608292	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608293	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792434	0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2792435	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2792436	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800792	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800793	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4725398	0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4726009	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4726010	0.89[ASN][1000 genomes]
rs6464134	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6949587	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs758249	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897917	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];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	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
rs921987	ABCF2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150930600-150940000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150930800-150934000	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr7:150931000-150933600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:150931000-150933800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
6	chr7:150931200-150933800	Weak transcription	Fetal Lung	lung
7	chr7:150931200-150935600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:150931200-150936200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:150931200-150936400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:150931200-150937400	Weak transcription	Right Atrium	heart
11	chr7:150931200-150938200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:150931200-150940000	Strong transcription	Fetal Intestine Small	intestine
13	chr7:150931200-150940000	Weak transcription	Stomach Mucosa	stomach
14	chr7:150931200-150940200	Strong transcription	Fetal Stomach	stomach
15	chr7:150931400-150933400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:150931400-150933400	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:150931400-150933400	Genic enhancers	HSMM	muscle
18	chr7:150931400-150933400	Weak transcription	HSMMtube	muscle
19	chr7:150931400-150933600	Strong transcription	Fetal Muscle Leg	muscle
20	chr7:150931400-150933800	Weak transcription	Brain Angular Gyrus	brain
21	chr7:150931400-150934200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:150931400-150935200	Strong transcription	Primary T cells from cord blood	blood
23	chr7:150931400-150935400	Strong transcription	NHEK	skin
24	chr7:150931400-150936600	Weak transcription	Fetal Heart	heart
25	chr7:150931400-150936800	Strong transcription	A549	lung
26	chr7:150931400-150937400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:150931400-150937400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:150931400-150939000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:150931400-150939600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:150931400-150939800	Strong transcription	Lung	lung
31	chr7:150931400-150940200	Weak transcription	Small Intestine	intestine
32	chr7:150931400-150940200	Strong transcription	NHLF	lung
33	chr7:150931600-150937200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:150931600-150937400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:150931600-150937800	Strong transcription	Thymus	Thymus
36	chr7:150931600-150939200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:150931600-150939200	Strong transcription	Brain Hippocampus Middle	brain
38	chr7:150931600-150939200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:150931600-150939600	Strong transcription	Placenta	Placenta
40	chr7:150931600-150939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:150931600-150939800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:150931600-150940000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:150931600-150940200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:150931600-150940200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:150931600-150940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:150931600-150944400	Weak transcription	Hela-S3	cervix
47	chr7:150931800-150933600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:150931800-150934600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:150931800-150935800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:150931800-150937000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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