Variant report

Variant	rs6958591
Chromosome Location	chr7:150922952-150922953
allele	C/G
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	MAZ	chr7:150922797-150925153	IMR90	lung:	n/a	chr7:150924483-150924493 chr7:150923705-150923715

No.	Distal block	Cell Line	Cell type
1	chr7:150725439..150727092-chr7:150922758..150925738,2	K562	blood:
2	chr7:150755192..150758087-chr7:150922401..150925767,3	K562	blood:
3	chr7:150922541..150925891-chr7:150969834..150974111,4	K562	blood:
4	chr7:150755190..150756692-chr7:150922882..150924419,2	K562	blood:

Variant related genes	Relation type
ABCF2	TF binding region
ENSG00000164885	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000243433	Chromatin interaction

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

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

rs_ID	r²[population]
rs2045465	0.84[ASN][1000 genomes]
rs219229	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs219230	0.96[ASN][1000 genomes]
rs219233	0.90[CHB][hapmap]
rs2242141	0.82[CEU][hapmap]
rs2252694	0.84[ASN][1000 genomes]
rs2487157	0.81[CHB][hapmap]
rs2530458	0.88[ASN][1000 genomes]
rs2530459	0.88[ASN][1000 genomes]
rs2608289	0.81[CHB][hapmap]
rs2608290	0.81[CHB][hapmap]
rs2792431	0.84[ASN][1000 genomes]
rs2792433	0.83[ASN][1000 genomes]
rs3789823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3807386	0.84[ASN][1000 genomes]
rs3807387	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs4236429	0.88[ASN][1000 genomes]
rs4236430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4472433	0.88[ASN][1000 genomes]
rs4726007	0.83[ASN][1000 genomes]
rs4726009	0.82[CEU][hapmap]
rs58125572	0.88[ASN][1000 genomes]
rs6464133	0.85[ASN][1000 genomes]
rs6464134	0.82[CEU][hapmap]
rs7786030	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6958591	ABCF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150908400-150923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:150908800-150923000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:150908800-150923000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr7:150909000-150923000	Strong transcription	Fetal Muscle Leg	muscle
5	chr7:150909200-150923000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:150909400-150923000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:150912200-150923200	Weak transcription	Stomach Mucosa	stomach
8	chr7:150921800-150923000	Genic enhancers	Dnd41	blood
9	chr7:150921800-150923000	Genic enhancers	HSMM	muscle
10	chr7:150922000-150923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:150922000-150923000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:150922000-150923000	Weak transcription	Primary B cells from cord blood	blood
13	chr7:150922200-150923000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:150922200-150923000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:150922200-150923000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:150922200-150923000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:150922200-150923000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:150922200-150923000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:150922200-150923000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:150922200-150923000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:150922200-150923000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:150922200-150923000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:150922200-150923000	Weak transcription	Esophagus	oesophagus
24	chr7:150922200-150923000	Weak transcription	Fetal Intestine Large	intestine
25	chr7:150922200-150923000	Weak transcription	Left Ventricle	heart
26	chr7:150922200-150923000	Weak transcription	Ovary	ovary
27	chr7:150922200-150923000	Weak transcription	Pancreas	Pancrea
28	chr7:150922200-150923000	Weak transcription	Thymus	Thymus
29	chr7:150922200-150923000	Weak transcription	NH-A	brain
30	chr7:150922200-150923000	Weak transcription	NHDF-Ad	bronchial
31	chr7:150922200-150923200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:150922200-150923200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:150922200-150923200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:150922200-150923200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:150922200-150923200	Weak transcription	Fetal Kidney	kidney
36	chr7:150922200-150923200	Weak transcription	Lung	lung
37	chr7:150922200-150923400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:150922200-150923400	Weak transcription	Aorta	Aorta
39	chr7:150922400-150923000	Weak transcription	Fetal Intestine Small	intestine
40	chr7:150922400-150923000	Weak transcription	Gastric	stomach
41	chr7:150922400-150923000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:150922400-150923000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:150922400-150923000	Enhancers	HepG2	liver
44	chr7:150922400-150923000	Enhancers	HSMMtube	muscle
45	chr7:150922400-150923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:150922400-150923200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:150922400-150923200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:150922400-150923200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr7:150922400-150923400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:150922400-150923400	Weak transcription	Placenta Amnion	Placenta Amnion

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