Variant report

Variant	nsv934242
Chromosome Location	chr3:121544737-121547269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121547116..121548952-chr3:121552697..121555325,4	MCF-7	breast:
2	chr3:121541912..121545321-chr3:121545405..121548683,3	MCF-7	breast:
3	chr3:121541912..121545321-chr3:121545405..121548683,3	MCF-7	breast:
4	chr3:121537691..121539463-chr3:121547054..121549794,2	K562	blood:
5	chr3:121544640..121546526-chr3:121557877..121559785,2	MCF-7	breast:
6	chr3:121542094..121547034-chr3:121547487..121555799,13	K562	blood:

Variant related genes	Relation type
ENSG00000173226	chromatin interactions
ENSG00000145088	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146228286	chr3:121544765-121544766	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546830888	chr3:121544767-121544768	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548274268	chr3:121544792-121544793	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568172136	chr3:121544797-121544798	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527842453	chr3:121544846-121544847	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534325743	chr3:121544847-121544848	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369407077	chr3:121544883-121544884	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139299149	chr3:121544943-121544944	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369191532	chr3:121544964-121544965	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146580215	chr3:121544969-121544970	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376703708	chr3:121545003-121545004	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370233738	chr3:121545019-121545020	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199800276	chr3:121545037-121545038	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376353341	chr3:121545039-121545040	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569996040	chr3:121545044-121545045	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115133919	chr3:121545048-121545049	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371889279	chr3:121545070-121545071	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555393018	chr3:121545104-121545105	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192049433	chr3:121545144-121545145	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144117502	chr3:121545160-121545161	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs553969510	chr3:121545161-121545162	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371857548	chr3:121545205-121545206	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78742442	chr3:121545235-121545236	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546053137	chr3:121545260-121545261	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562656405	chr3:121545301-121545302	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs75133035	chr3:121545367-121545368	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375099509	chr3:121545445-121545446	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs184369561	chr3:121545530-121545531	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547575259	chr3:121545551-121545552	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs189665380	chr3:121545552-121545553	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs4505751	chr3:121545661-121545662	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs192744120	chr3:121545674-121545675	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567741267	chr3:121545675-121545676	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115142078	chr3:121545686-121545687	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533374121	chr3:121545696-121545697	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373524402	chr3:121545732-121545733	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184297707	chr3:121545738-121545739	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370958643	chr3:121545845-121545846	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146512331	chr3:121545861-121545862	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555384715	chr3:121545878-121545879	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556848007	chr3:121545928-121545929	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148697740	chr3:121545954-121545955	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534821862	chr3:121545976-121545977	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189104705	chr3:121545991-121545992	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs145141651	chr3:121546000-121546001	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576935154	chr3:121546038-121546039	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs9838498	chr3:121546046-121546047	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs2331963	chr3:121546059-121546060	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs13092791	chr3:121546083-121546084	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs151040581	chr3:121546118-121546119	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121491600-121552600	Weak transcription	NHLF	lung
2	chr3:121507000-121545400	Weak transcription	Fetal Heart	heart
3	chr3:121528000-121553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:121530800-121552200	Weak transcription	Small Intestine	intestine
5	chr3:121530800-121552400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:121530800-121552800	Weak transcription	HSMMtube	muscle
7	chr3:121530800-121553000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:121530800-121553200	Weak transcription	Esophagus	oesophagus
9	chr3:121531000-121552800	Weak transcription	Fetal Stomach	stomach
10	chr3:121531000-121552800	Weak transcription	Pancreas	Pancrea
11	chr3:121531000-121552800	Weak transcription	Right Ventricle	heart
12	chr3:121531000-121552800	Weak transcription	Spleen	Spleen
13	chr3:121531200-121549600	Weak transcription	Brain Angular Gyrus	brain
14	chr3:121535400-121551200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:121535600-121545200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:121536000-121551600	Strong transcription	Fetal Thymus	thymus
17	chr3:121536200-121552800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:121536400-121548000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr3:121537200-121552600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:121537400-121552800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:121538400-121552000	Weak transcription	Gastric	stomach
22	chr3:121539200-121547000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:121539600-121548200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:121539800-121547400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:121539800-121548200	Strong transcription	Liver	Liver
26	chr3:121539800-121552600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:121539800-121552600	Strong transcription	HSMM	muscle
28	chr3:121540000-121547200	ZNF genes & repeats	GM12878-XiMat	blood
29	chr3:121540000-121547400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:121540000-121547400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr3:121540000-121547400	Strong transcription	Hela-S3	cervix
32	chr3:121540000-121548200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr3:121540000-121552000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:121540200-121544800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:121540200-121547400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:121540200-121549000	Strong transcription	Placenta	Placenta
37	chr3:121541000-121548200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:121541200-121547400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr3:121541200-121553000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:121541400-121546400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:121541400-121548400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:121541400-121552800	Weak transcription	Aorta	Aorta
43	chr3:121541600-121546400	Strong transcription	Osteobl	bone
44	chr3:121541600-121550000	Weak transcription	Psoas Muscle	Psoas
45	chr3:121541600-121552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:121541800-121545200	Strong transcription	NHEK	skin
47	chr3:121542200-121552800	Weak transcription	Left Ventricle	heart
48	chr3:121542400-121546600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:121542400-121547200	Strong transcription	Fetal Intestine Large	intestine
50	chr3:121542600-121545600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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