Variant report

Variant	nsv10329
Chromosome Location	chr3:137803343-137807116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549353856	chr3:137803372-137803373	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140742276	chr3:137803426-137803427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538516840	chr3:137803486-137803487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557997260	chr3:137803515-137803516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577838465	chr3:137803584-137803585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372210900	chr3:137803607-137803608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561589872	chr3:137803621-137803622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534080961	chr3:137803624-137803625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571359708	chr3:137803630-137803631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57342874	chr3:137803720-137803721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78765465	chr3:137803750-137803751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573671967	chr3:137803788-137803789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542286226	chr3:137803790-137803791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562489214	chr3:137803791-137803792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200105392	chr3:137803847-137803848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575911410	chr3:137803852-137803853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545343616	chr3:137803886-137803887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565128446	chr3:137803907-137803908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527489616	chr3:137803927-137803928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530382893	chr3:137803938-137803939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7639197	chr3:137803963-137803964	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560612917	chr3:137803970-137803971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529368589	chr3:137804083-137804084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549146896	chr3:137804101-137804102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187441036	chr3:137804128-137804129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537826191	chr3:137804161-137804162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551661396	chr3:137804172-137804173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571570117	chr3:137804176-137804177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534163294	chr3:137804207-137804208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553943349	chr3:137804284-137804285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567283172	chr3:137804285-137804286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192235871	chr3:137804329-137804330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555955887	chr3:137804430-137804431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575990534	chr3:137804541-137804542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544978391	chr3:137804590-137804591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558931711	chr3:137804646-137804647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572364867	chr3:137804714-137804715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183258912	chr3:137804865-137804866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561123539	chr3:137805008-137805009	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6809258	chr3:137805012-137805013	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543130798	chr3:137805045-137805046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562795921	chr3:137805050-137805051	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202084004	chr3:137805110-137805111	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201133330	chr3:137805124-137805125	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77349895	chr3:137805185-137805186	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538805365	chr3:137805201-137805202	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571655138	chr3:137805338-137805339	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35801627	chr3:137805349-137805350	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527962619	chr3:137805358-137805359	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552634038	chr3:137805375-137805376	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	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	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
2	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
3	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:137783200-137811600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
6	chr3:137785400-137805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:137787600-137806600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:137787800-137805200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:137789800-137803600	Strong transcription	Fetal Lung	lung
10	chr3:137792000-137820600	Weak transcription	Esophagus	oesophagus
11	chr3:137792200-137805200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:137792400-137818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:137793800-137803600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr3:137794600-137803400	Strong transcription	Fetal Muscle Leg	muscle
15	chr3:137794600-137803400	Strong transcription	Fetal Stomach	stomach
16	chr3:137795800-137803400	Strong transcription	Aorta	Aorta
17	chr3:137796200-137803800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:137796200-137811400	Weak transcription	Fetal Brain Male	brain
19	chr3:137796600-137803800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:137796800-137805200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:137798600-137803400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:137798800-137803800	Strong transcription	Right Ventricle	heart
23	chr3:137799400-137803800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:137800000-137803400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:137801400-137803400	Strong transcription	Left Ventricle	heart
26	chr3:137801400-137805400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:137801600-137803600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:137801600-137803600	Strong transcription	Fetal Kidney	kidney
29	chr3:137801600-137820600	Weak transcription	Spleen	Spleen
30	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:137801800-137803400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:137801800-137805200	Weak transcription	Brain Anterior Caudate	brain
33	chr3:137801800-137807800	Weak transcription	NHEK	skin
34	chr3:137801800-137812600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:137801800-137815200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:137802000-137803400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:137802000-137803400	Strong transcription	Rectal Smooth Muscle	rectum
38	chr3:137802000-137803400	Genic enhancers	NHLF	lung
39	chr3:137802000-137803600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr3:137802000-137803600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:137802000-137803600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:137802000-137803600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:137802200-137803400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:137802200-137803400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:137802200-137803400	Strong transcription	NHDF-Ad	bronchial
46	chr3:137802200-137803600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:137802200-137803600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr3:137802200-137803800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:137802200-137804000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr3:137802200-137818200	Weak transcription	Hela-S3	cervix

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