Variant report

Variant	esv3356347
Chromosome Location	chr3:121169862-121174160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 241 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190674924	chr3:121169922-121169923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529885260	chr3:121169958-121169959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546808154	chr3:121170029-121170030	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560632858	chr3:121170064-121170065	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144004433	chr3:121170085-121170086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147290437	chr3:121170096-121170097	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569231760	chr3:121170097-121170098	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376617835	chr3:121170120-121170121	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6438631	chr3:121170121-121170122	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548868392	chr3:121170132-121170133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568593271	chr3:121170187-121170188	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534378786	chr3:121170203-121170204	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140842762	chr3:121170222-121170223	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149793446	chr3:121170239-121170240	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538306154	chr3:121170252-121170253	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372918743	chr3:121170259-121170260	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558132050	chr3:121170300-121170301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145729033	chr3:121170301-121170302	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182054606	chr3:121170364-121170365	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs184527806	chr3:121170368-121170369	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574592479	chr3:121170371-121170372	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375922898	chr3:121170379-121170380	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540413924	chr3:121170398-121170399	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189185740	chr3:121170399-121170400	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532644393	chr3:121170423-121170424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369056497	chr3:121170431-121170432	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552678440	chr3:121170451-121170452	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544938130	chr3:121170461-121170462	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562888307	chr3:121170483-121170484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531719648	chr3:121170485-121170486	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548925338	chr3:121170496-121170497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568730844	chr3:121170501-121170502	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531034097	chr3:121170522-121170523	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534165583	chr3:121170545-121170546	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118069544	chr3:121170551-121170552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148506585	chr3:121170558-121170559	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538367548	chr3:121170577-121170578	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558195220	chr3:121170579-121170580	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574923423	chr3:121170594-121170595	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537446205	chr3:121170600-121170601	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs630138	chr3:121170611-121170612	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376213255	chr3:121170618-121170619	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386665199	chr3:121170626-121170627	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181201538	chr3:121170630-121170631	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567463994	chr3:121170631-121170632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368156717	chr3:121170635-121170636	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186615909	chr3:121170636-121170637	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530096659	chr3:121170666-121170667	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546355946	chr3:121170667-121170668	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190670289	chr3:121170669-121170670	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Bipolar disorder	17953491	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:121140600-121170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:121141200-121186000	Weak transcription	NHEK	skin
4	chr3:121146000-121177400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:121146000-121185800	Weak transcription	Fetal Stomach	stomach
6	chr3:121146200-121185600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:121146400-121185800	Weak transcription	Fetal Intestine Large	intestine
8	chr3:121148000-121170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:121148400-121199600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:121149400-121181000	Weak transcription	HMEC	breast
11	chr3:121149400-121196600	Weak transcription	NH-A	brain
12	chr3:121149400-121199600	Weak transcription	Fetal Lung	lung
13	chr3:121149800-121177400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:121149800-121177400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:121151200-121185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:121151200-121193400	Weak transcription	HSMM	muscle
17	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:121151400-121185600	Weak transcription	HUVEC	blood vessel
19	chr3:121151800-121171000	Weak transcription	HepG2	liver
20	chr3:121151800-121177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:121152600-121177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:121153200-121170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:121153200-121177600	Weak transcription	K562	blood
24	chr3:121153800-121177400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:121155600-121177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:121155800-121170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:121155800-121177600	Weak transcription	Thymus	Thymus
28	chr3:121157400-121170400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:121159600-121177400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:121160400-121177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:121164000-121170400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:121165800-121171200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:121166600-121171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:121167200-121170400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:121167200-121177400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:121167200-121178800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:121168600-121170000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:121168600-121171000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:121168600-121184600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:121168800-121171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:121168800-121171200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:121168800-121177200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr3:121168800-121177400	Weak transcription	A549	lung
44	chr3:121168800-121177400	Weak transcription	Hela-S3	cervix
45	chr3:121169000-121170000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:121169000-121170400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:121169000-121170400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:121169000-121171000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:121169000-121171000	Weak transcription	Fetal Thymus	thymus
50	chr3:121169000-121171000	Weak transcription	Dnd41	blood

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