Variant report

Variant	esv1801263
Chromosome Location	chr3:136021656-136027769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136012746..136014476-chr3:136025907..136027620,2	K562	blood:
2	chr3:136024388..136025351-chr3:136470886..136471672,6	MCF-7	breast:
3	chr3:136025488..136027450-chr3:136031580..136034154,2	K562	blood:
4	chr3:136010183..136011753-chr3:136025540..136027566,2	K562	blood:
5	chr3:136024808..136025625-chr3:136470874..136471604,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118007	chromatin interactions
ENSG00000261758	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144763543	chr3:136021677-136021678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148251226	chr3:136021799-136021800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571068580	chr3:136021843-136021844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369362344	chr3:136022017-136022018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377762928	chr3:136022117-136022118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188404472	chr3:136022129-136022130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538977572	chr3:136022236-136022237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141189641	chr3:136022329-136022330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566948936	chr3:136022369-136022370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535528814	chr3:136022374-136022375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150323861	chr3:136022412-136022413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13071533	chr3:136022413-136022414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193038166	chr3:136022431-136022432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112092503	chr3:136022444-136022445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185091309	chr3:136022445-136022446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189989849	chr3:136022490-136022491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373391426	chr3:136022529-136022530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111510216	chr3:136022618-136022619	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143406181	chr3:136022642-136022643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576632222	chr3:136022655-136022656	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545943318	chr3:136022715-136022716	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559222158	chr3:136022736-136022737	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147151856	chr3:136022801-136022802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201486488	chr3:136022826-136022827	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199925968	chr3:136022828-136022829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377299981	chr3:136022829-136022830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200423272	chr3:136022831-136022832	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112359805	chr3:136022850-136022851	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191651322	chr3:136022940-136022941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113234934	chr3:136022963-136022964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370943097	chr3:136022993-136022994	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61789603	chr3:136023011-136023012	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183802545	chr3:136023036-136023037	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572109880	chr3:136023078-136023079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140168777	chr3:136023095-136023096	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187965823	chr3:136023213-136023214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370521151	chr3:136023225-136023226	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141133536	chr3:136023228-136023229	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566146533	chr3:136023232-136023233	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs13099771	chr3:136023245-136023246	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs368800578	chr3:136023262-136023263	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs566883095	chr3:136023285-136023286	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554682885	chr3:136023333-136023334	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535931526	chr3:136023367-136023368	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549175635	chr3:136023381-136023382	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187248695	chr3:136023383-136023384	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537833019	chr3:136023417-136023418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556847823	chr3:136023456-136023457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs34511849	chr3:136023469-136023470	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539299835	chr3:136023531-136023532	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135970600-136039400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:135981200-136052000	Weak transcription	NH-A	brain
3	chr3:135998000-136040200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:135999800-136038200	Weak transcription	Fetal Brain Male	brain
5	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
6	chr3:136000000-136024600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:136000200-136038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:136004600-136022000	Weak transcription	NHDF-Ad	bronchial
9	chr3:136009400-136023000	Strong transcription	Dnd41	blood
10	chr3:136010600-136031400	Weak transcription	Stomach Mucosa	stomach
11	chr3:136011000-136024600	Weak transcription	Psoas Muscle	Psoas
12	chr3:136012600-136024800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr3:136013600-136022000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:136014200-136040000	Weak transcription	Small Intestine	intestine
15	chr3:136015000-136038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:136015400-136022000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:136016400-136038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:136016600-136022200	Weak transcription	NHLF	lung
19	chr3:136016800-136045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:136017000-136022200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:136017000-136040000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:136018200-136051400	Weak transcription	A549	lung
23	chr3:136019000-136022200	Weak transcription	Fetal Heart	heart
24	chr3:136019000-136038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:136019600-136022000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:136020200-136024800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:136020200-136036400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:136020200-136039000	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:136020200-136040200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:136020200-136045200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:136020400-136030200	Weak transcription	Pancreas	Pancrea
32	chr3:136020400-136038400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:136020400-136045200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:136020400-136045200	Weak transcription	Colonic Mucosa	Colon
35	chr3:136020600-136022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:136020600-136023200	Weak transcription	Spleen	Spleen
37	chr3:136020600-136024600	Weak transcription	Brain Germinal Matrix	brain
38	chr3:136020600-136024800	Weak transcription	Primary B cells from cord blood	blood
39	chr3:136020600-136035000	Weak transcription	Fetal Brain Female	brain
40	chr3:136020600-136035200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:136020600-136035600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:136020600-136035600	Weak transcription	Brain Angular Gyrus	brain
43	chr3:136020600-136035600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:136020600-136035800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:136020600-136035800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:136020600-136035800	Weak transcription	Aorta	Aorta
47	chr3:136020600-136035800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:136020600-136036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:136020600-136036200	Weak transcription	Lung	lung
50	chr3:136020600-136036400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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