Variant report

Variant	rs57753967
Chromosome Location	chr7:100485172-100485173
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	chr7:100485145-100485547	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:100484343-100487721	HL-60	blood:	n/a	n/a
3	POLR2A	chr7:100482512-100488569	K562	blood:	n/a	n/a
4	PML	chr7:100485033-100485823	K562	blood:	n/a	n/a
5	MYC	chr7:100485082-100488580	NB4	blood:	n/a	chr7:100487090-100487099 chr7:100487091-100487101 chr7:100485503-100485513
6	SPI1	chr7:100484890-100485667	GM12891	blood:	n/a	chr7:100485207-100485220 chr7:100484918-100484925
7	POLR2A	chr7:100484462-100486217	GM12878	blood:	n/a	n/a
8	TEAD4	chr7:100484983-100486903	K562	blood:	n/a	n/a
9	POU2F2	chr7:100485077-100486065	GM12891	blood:	n/a	chr7:100485203-100485215 chr7:100485619-100485631
10	POLR2A	chr7:100484695-100488620	PANC-1	pancreas:	n/a	n/a
11	POU2F2	chr7:100485019-100485814	GM12878	blood:	n/a	chr7:100485203-100485215 chr7:100485619-100485631
12	SPI1	chr7:100484804-100485738	HL-60	blood:	n/a	chr7:100485207-100485220 chr7:100484918-100484925
13	POLR2A	chr7:100480317-100488960	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:100483366-100487362	GM12891	blood:	n/a	n/a
15	TAF1	chr7:100485164-100485456	GM12878	blood:	n/a	n/a
16	HEY1	chr7:100485127-100487354	K562	blood:	n/a	n/a
17	TBP	chr7:100485157-100485521	GM12878	blood:	n/a	n/a
18	MYC	chr7:100485161-100485721	K562	blood:	n/a	chr7:100485503-100485513
19	POLR2A	chr7:100484558-100487869	GM18505	blood:	n/a	n/a
20	POLR2A	chr7:100485145-100485907	H1-neurons	neurons:	n/a	n/a
21	WRNIP1	chr7:100485091-100485568	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:100483321-100487299	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:100484920-100488643	K562	blood:	n/a	n/a
24	ZBTB7A	chr7:100485055-100485536	K562	blood:	n/a	n/a
25	POLR2A	chr7:100484407-100487333	GM12891	blood:	n/a	n/a
26	POLR2A	chr7:100484485-100487533	HL-60	blood:	n/a	n/a
27	IRF4	chr7:100484965-100485611	GM12878	blood:	n/a	n/a
28	SPI1	chr7:100484832-100485677	GM12891	blood:	n/a	chr7:100485207-100485220 chr7:100484918-100484925
29	ELF1	chr7:100485072-100485649	GM12878	blood:	n/a	n/a
30	CREB1	chr7:100484905-100485665	GM12878	blood:	n/a	n/a
31	TAF1	chr7:100485096-100485475	GM12878	blood:	n/a	n/a
32	CCNT2	chr7:100484611-100485465	K562	blood:	n/a	chr7:100485205-100485214
33	POLR2A	chr7:100484742-100488541	HCT-116	colon:	n/a	n/a
34	POLR2A	chr7:100483100-100488395	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:100484674-100486114	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr7:100484554-100488271	MCF10A-Er-Src	breast:	n/a	n/a
37	ELF1	chr7:100484837-100485695	K562	blood:	n/a	n/a
38	POLR2A	chr7:100483376-100488553	K562	blood:	n/a	n/a
39	POLR2A	chr7:100480382-100488921	K562	blood:	n/a	n/a
40	SPI1	chr7:100484878-100485642	GM12878	blood:	n/a	chr7:100485207-100485220 chr7:100484918-100484925
41	POLR2A	chr7:100483382-100487701	GM12892	blood:	n/a	n/a
42	ATF2	chr7:100485145-100485637	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:100481058-100488237	Hela-S3	cervix:	n/a	n/a
44	SPI1	chr7:100485120-100485690	HL-60	blood:	n/a	chr7:100485207-100485220
45	POLR2A	chr7:100483381-100489176	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr7:100483511-100488697	PANC-1	pancreas:	n/a	n/a
47	STAT5A	chr7:100484863-100486016	GM12878	blood:	n/a	chr7:100485621-100485633 chr7:100485620-100485632 chr7:100485201-100485213
48	POLR2A	chr7:100484979-100485723	A549	lung:	n/a	n/a
49	POLR2A	chr7:100484774-100486788	GM19099	blood:	n/a	n/a
50	POLR2A	chr7:100484596-100487337	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100302488..100305264-chr7:100484983..100487146,3	K562	blood:
2	chr7:100447367..100452420-chr7:100484839..100489079,9	MCF-7	breast:
3	chr7:100223306..100225539-chr7:100484655..100487462,2	K562	blood:
4	chr7:100404894..100407220-chr7:100484174..100486005,2	MCF-7	breast:
5	chr7:100448922..100451627-chr7:100483976..100487908,4	K562	blood:
6	chr7:100302365..100304789-chr7:100482401..100486103,3	K562	blood:
7	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:
8	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:

Variant related genes	Relation type
SRRT	TF binding region
ENSG00000106327	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000146828	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11171	0.89[AFR][1000 genomes]
rs17162518	0.92[AFR][1000 genomes]
rs17228616	0.96[AFR][1000 genomes]
rs55833792	1.00[AFR][1000 genomes]
rs57322794	0.92[AFR][1000 genomes]
rs58194245	0.92[AFR][1000 genomes]
rs61357484	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73714203	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801190	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv888802	chr7:100484917-100495530	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57753967	ENSG00000087087	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100473600-100486600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100473800-100485600	Weak transcription	Right Atrium	heart
3	chr7:100474600-100485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:100474600-100486000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:100474800-100485600	Strong transcription	HSMM	muscle
6	chr7:100474800-100485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:100474800-100485800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:100474800-100486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:100475000-100485800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:100475200-100485400	Strong transcription	Fetal Intestine Large	intestine
11	chr7:100475200-100486000	Strong transcription	Ovary	ovary
12	chr7:100475800-100486000	Strong transcription	NHLF	lung
13	chr7:100475800-100486200	Weak transcription	Fetal Brain Male	brain
14	chr7:100476000-100485200	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr7:100476200-100485200	Strong transcription	NHEK	skin
16	chr7:100476400-100485400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:100476400-100485800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:100476400-100486000	Strong transcription	Osteobl	bone
19	chr7:100476600-100485800	Strong transcription	NH-A	brain
20	chr7:100477200-100485800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:100477400-100486000	Strong transcription	Aorta	Aorta
22	chr7:100477600-100485800	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr7:100477800-100485600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:100477800-100485800	Strong transcription	Rectal Smooth Muscle	rectum
25	chr7:100478400-100485800	Strong transcription	Fetal Brain Female	brain
26	chr7:100478400-100486000	Strong transcription	Brain Angular Gyrus	brain
27	chr7:100478600-100485400	Strong transcription	Colon Smooth Muscle	Colon
28	chr7:100478600-100486200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:100478800-100485200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:100478800-100485600	Strong transcription	Left Ventricle	heart
31	chr7:100478800-100485600	Strong transcription	NHDF-Ad	bronchial
32	chr7:100479000-100485800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:100479000-100486000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:100479200-100485800	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr7:100479200-100485800	Strong transcription	HSMMtube	muscle
36	chr7:100479200-100486400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr7:100479600-100485600	Strong transcription	Brain Substantia Nigra	brain
38	chr7:100480200-100485800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:100480800-100486200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:100481600-100485200	Strong transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:100482800-100485600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:100482800-100486000	Genic enhancers	Fetal Intestine Small	intestine
43	chr7:100482800-100486600	Genic enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:100482800-100487200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:100483000-100486600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:100483400-100485200	Strong transcription	HepG2	liver
47	chr7:100483600-100485800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:100483600-100485800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr7:100483600-100486400	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr7:100483600-100486400	Genic enhancers	Pancreas	Pancrea

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