Variant report

Variant	nsv877539
Chromosome Location	chr3:138224220-138261288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138222687..138224341-chr3:138230011..138232185,2	MCF-7	breast:
2	chr3:138228056..138229897-chr3:138230355..138233975,3	K562	blood:
3	chr20:3451237..3451899-chr3:138226141..138226668,2	MCF-7	breast:
4	chr3:138228056..138229897-chr3:138230355..138233975,3	K562	blood:
5	chr3:138222687..138224341-chr3:138230011..138232185,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088812	chromatin interactions

Extended variants
information (count: 1521 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1521 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6774192	chr3:138224220-138224221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141143307	chr3:138224237-138224238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369225652	chr3:138224262-138224263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61996332	chr3:138224274-138224275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573449409	chr3:138224285-138224286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564423679	chr3:138224373-138224374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371294436	chr3:138224450-138224451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372558024	chr3:138224463-138224464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185960536	chr3:138224506-138224507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192961738	chr3:138224561-138224562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560503363	chr3:138224630-138224631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77543401	chr3:138224632-138224633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377048175	chr3:138224640-138224641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34689426	chr3:138224654-138224655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542011396	chr3:138224735-138224736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549411480	chr3:138224756-138224757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139979013	chr3:138224777-138224778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34482601	chr3:138224802-138224803	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551638903	chr3:138224806-138224807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141242189	chr3:138224807-138224808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75369004	chr3:138224820-138224821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71941022	chr3:138224901-138224902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553799657	chr3:138224903-138224904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114665760	chr3:138224935-138224936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535912459	chr3:138225088-138225089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79614171	chr3:138225150-138225151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575763551	chr3:138225156-138225157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544377111	chr3:138225193-138225194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557902527	chr3:138225200-138225201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146439170	chr3:138225259-138225260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185630468	chr3:138225295-138225296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540879981	chr3:138225303-138225304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116003932	chr3:138225458-138225459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74665929	chr3:138225467-138225468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190458724	chr3:138225483-138225484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4129949	chr3:138225499-138225500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150779277	chr3:138225532-138225533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139085922	chr3:138225539-138225540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149915498	chr3:138225637-138225638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571434470	chr3:138225666-138225667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527493522	chr3:138225671-138225672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547664461	chr3:138225673-138225674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567487922	chr3:138225785-138225786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77465263	chr3:138225790-138225791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192630639	chr3:138225795-138225796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569332057	chr3:138225844-138225845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538312188	chr3:138225862-138225863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558238404	chr3:138225866-138225867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577770313	chr3:138225880-138225881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368663890	chr3:138225910-138225911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138194000-138260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:138208400-138227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:138209400-138236800	Weak transcription	Aorta	Aorta
4	chr3:138209800-138258600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:138210000-138230200	Weak transcription	Fetal Brain Male	brain
6	chr3:138210400-138236800	Weak transcription	Brain Substantia Nigra	brain
7	chr3:138210400-138242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:138210800-138260600	Weak transcription	Colonic Mucosa	Colon
9	chr3:138211000-138229400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:138211000-138231000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:138211000-138236600	Weak transcription	Spleen	Spleen
12	chr3:138211200-138227200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:138211200-138260600	Weak transcription	Brain Angular Gyrus	brain
14	chr3:138211400-138230400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:138211600-138227400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:138211800-138260600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:138212000-138235000	Weak transcription	Brain Germinal Matrix	brain
18	chr3:138212000-138235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:138212400-138236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:138212400-138236600	Weak transcription	Esophagus	oesophagus
21	chr3:138212600-138224400	Weak transcription	Left Ventricle	heart
22	chr3:138212600-138236600	Weak transcription	Lung	lung
23	chr3:138212600-138250200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:138212800-138236800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:138212800-138249800	Weak transcription	Small Intestine	intestine
26	chr3:138213000-138224400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:138213200-138236600	Weak transcription	Ovary	ovary
28	chr3:138213200-138236600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:138213200-138243800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:138213400-138230200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:138213800-138231200	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:138214200-138229000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:138214200-138229200	Weak transcription	Osteobl	bone
34	chr3:138214200-138232600	Weak transcription	HMEC	breast
35	chr3:138214200-138236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:138214400-138228600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:138214400-138231800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:138214400-138260600	Weak transcription	Right Ventricle	heart
39	chr3:138215000-138231800	Weak transcription	Psoas Muscle	Psoas
40	chr3:138215400-138228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:138215600-138226200	Weak transcription	Fetal Heart	heart
42	chr3:138215600-138236400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:138215800-138236600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:138216000-138230600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:138216000-138235800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:138216200-138230800	Weak transcription	Stomach Mucosa	stomach
47	chr3:138216600-138224800	Strong transcription	Fetal Thymus	thymus
48	chr3:138216600-138225600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:138216600-138239400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:138217000-138236000	Weak transcription	Fetal Intestine Large	intestine

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