Variant report

Variant	esv3505317
Chromosome Location	chr3:119654512-119657910
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	chr3:119655041..119657977-chr3:119815420..119818415,2	K562	blood:
2	chr3:119651638..119653513-chr3:119656537..119658183,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534232362	chr3:119654513-119654514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536035744	chr3:119654666-119654667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186651234	chr3:119654689-119654690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76571337	chr3:119654777-119654778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570042575	chr3:119654781-119654782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574371594	chr3:119654924-119654925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75525115	chr3:119654994-119654995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562962777	chr3:119654999-119655000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189430576	chr3:119655064-119655065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539132894	chr3:119655090-119655091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560503270	chr3:119655140-119655141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199958180	chr3:119655184-119655185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529640796	chr3:119655186-119655187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571582966	chr3:119655201-119655202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369231645	chr3:119655202-119655203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201838958	chr3:119655203-119655204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34550759	chr3:119655211-119655212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560179977	chr3:119655225-119655226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376065674	chr3:119655251-119655252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368138302	chr3:119655262-119655263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6797459	chr3:119655338-119655339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111803207	chr3:119655339-119655340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538088244	chr3:119655367-119655368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181935345	chr3:119655377-119655378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370927181	chr3:119655477-119655478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186082414	chr3:119655504-119655505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534168090	chr3:119655510-119655511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553905223	chr3:119655630-119655631	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577240625	chr3:119655634-119655635	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560654635	chr3:119655639-119655640	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs539566901	chr3:119655669-119655670	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141242655	chr3:119655703-119655704	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144954168	chr3:119655705-119655706	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs191200184	chr3:119655744-119655745	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs9857139	chr3:119655753-119655754	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183319905	chr3:119655785-119655786	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs112660194	chr3:119655830-119655831	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559907094	chr3:119655857-119655858	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs56278529	chr3:119655859-119655860	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs9880833	chr3:119655877-119655878	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551987093	chr3:119655881-119655882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138806145	chr3:119655917-119655918	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531525631	chr3:119655936-119655937	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543359636	chr3:119655940-119655941	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs149543937	chr3:119656007-119656008	ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370067271	chr3:119656025-119656026	ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568339637	chr3:119656031-119656032	ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144140557	chr3:119656034-119656035	ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148257734	chr3:119656059-119656060	ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4491944	chr3:119656071-119656072	ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	21339820	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
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119597600-119659000	Weak transcription	Gastric	stomach
3	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
5	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
6	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
7	chr3:119628200-119655600	Weak transcription	Fetal Heart	heart
8	chr3:119628200-119663200	Weak transcription	Right Atrium	heart
9	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
10	chr3:119630800-119663200	Weak transcription	Esophagus	oesophagus
11	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
12	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:119631400-119660800	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:119631600-119656000	Weak transcription	NHEK	skin
15	chr3:119633400-119655600	Weak transcription	Fetal Kidney	kidney
16	chr3:119634000-119656200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:119635000-119665400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr3:119635000-119667000	Weak transcription	Placenta	Placenta
19	chr3:119635400-119664600	Weak transcription	HMEC	breast
20	chr3:119636400-119667200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:119638800-119655400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:119638800-119656000	Weak transcription	Primary T cells from cord blood	blood
23	chr3:119640000-119663800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:119640200-119655800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:119640400-119656000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:119640600-119664400	Weak transcription	HSMM	muscle
27	chr3:119640600-119665000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:119640600-119672400	Weak transcription	Osteobl	bone
29	chr3:119640800-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:119640800-119665400	Weak transcription	Fetal Thymus	thymus
31	chr3:119641000-119655400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:119641000-119661800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:119641000-119662600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:119641000-119663800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:119641000-119681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:119641000-119681600	Weak transcription	Fetal Intestine Small	intestine
37	chr3:119641000-119694400	Weak transcription	Fetal Lung	lung
38	chr3:119641200-119664400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr3:119641200-119666400	Weak transcription	HepG2	liver
40	chr3:119641200-119681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:119642200-119656000	Weak transcription	Dnd41	blood
42	chr3:119642200-119665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:119643400-119655600	Weak transcription	Primary B cells from cord blood	blood
44	chr3:119643400-119655600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:119644400-119655600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:119644400-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:119644600-119655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:119644800-119655600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:119645400-119669600	Weak transcription	Psoas Muscle	Psoas
50	chr3:119645600-119656000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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