Variant report

Variant	esv3452798
Chromosome Location	chr1:247296800-247301794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247267372..247270234-chr1:247298107..247300511,2	MCF-7	breast:
2	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188295	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572889053	chr1:247296805-247296806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544976424	chr1:247296812-247296813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534577011	chr1:247296815-247296816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564793592	chr1:247296821-247296822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533635584	chr1:247296884-247296885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60169710	chr1:247296973-247296974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6700358	chr1:247297018-247297019	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs191620241	chr1:247297048-247297049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529426293	chr1:247297070-247297071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369129514	chr1:247297088-247297089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549216577	chr1:247297116-247297117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566117675	chr1:247297117-247297118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372913611	chr1:247297139-247297140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146797393	chr1:247297163-247297164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182182331	chr1:247297220-247297221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6676585	chr1:247297239-247297240	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs545130755	chr1:247297243-247297244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536926784	chr1:247297246-247297247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186516102	chr1:247297252-247297253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567339869	chr1:247297256-247297257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191282619	chr1:247297260-247297261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558044487	chr1:247297305-247297306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576593686	chr1:247297312-247297313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184590003	chr1:247297371-247297372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572949799	chr1:247297382-247297383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189110589	chr1:247297406-247297407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558563782	chr1:247297415-247297416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555536465	chr1:247297444-247297445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6688822	chr1:247297502-247297503	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs6699808	chr1:247297527-247297528	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563963290	chr1:247297528-247297529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34682080	chr1:247297534-247297535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574155009	chr1:247297582-247297583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543176842	chr1:247297583-247297584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559607584	chr1:247297584-247297585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528548611	chr1:247297605-247297606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562385222	chr1:247297618-247297619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192870368	chr1:247297636-247297637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564934567	chr1:247297643-247297644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530755552	chr1:247297646-247297647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185393198	chr1:247297662-247297663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11803835	chr1:247297674-247297675	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs536081912	chr1:247297682-247297683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575078736	chr1:247297733-247297734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546742698	chr1:247297817-247297818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566607159	chr1:247297821-247297822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373062578	chr1:247297920-247297921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558624236	chr1:247297953-247297954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150744600	chr1:247297962-247297963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537798857	chr1:247297972-247297973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247291400-247297800	Weak transcription	Psoas Muscle	Psoas
2	chr1:247293200-247296800	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr1:247293200-247298400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:247293400-247297000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:247293400-247298200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr1:247293400-247300600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:247293600-247296800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr1:247293600-247296800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr1:247293600-247297200	ZNF genes & repeats	Liver	Liver
10	chr1:247294000-247296800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:247295200-247307400	Weak transcription	Right Ventricle	heart
12	chr1:247295400-247297000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:247295400-247299400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:247295600-247297000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:247295600-247302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:247295600-247303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:247295600-247304400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:247296400-247296800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:247296400-247296800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:247296800-247297800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:247297000-247297200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:247297000-247297400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:247297400-247297600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:247297400-247300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:247297800-247298000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:247298000-247298200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:247298200-247302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:247298800-247299600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:247299800-247300200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:247300200-247300400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:247300400-247304000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:247300600-247302000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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