Variant report

Variant	esv9585
Chromosome Location	chr3:136020773-136026460
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	chr3:136024808..136025625-chr3:136470874..136471604,2	MCF-7	breast:
3	chr3:136025488..136027450-chr3:136031580..136034154,2	K562	blood:
4	chr3:136024388..136025351-chr3:136470886..136471672,6	MCF-7	breast:
5	chr3:136010183..136011753-chr3:136025540..136027566,2	K562	blood:
6	chr3:136014329..136016765-chr3:136018806..136021350,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118007	chromatin interactions
ENSG00000261758	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568695908	chr3:136020779-136020780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186754863	chr3:136020839-136020840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577224819	chr3:136020841-136020842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557585312	chr3:136020864-136020865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528155107	chr3:136020893-136020894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535655066	chr3:136020896-136020897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570983648	chr3:136020911-136020912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548311926	chr3:136020944-136020945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148931677	chr3:136020948-136020949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1711170	chr3:136020975-136020976	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs192676509	chr3:136020976-136020977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200775111	chr3:136020987-136020988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60479824	chr3:136021004-136021005	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34153877	chr3:136021052-136021053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75952291	chr3:136021080-136021081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543244456	chr3:136021158-136021159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563127653	chr3:136021180-136021181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532141938	chr3:136021196-136021197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545604221	chr3:136021257-136021258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145660790	chr3:136021319-136021320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146516051	chr3:136021425-136021426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183209265	chr3:136021532-136021533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9852811	chr3:136021647-136021648	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144763543	chr3:136021677-136021678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148251226	chr3:136021799-136021800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571068580	chr3:136021843-136021844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369362344	chr3:136022017-136022018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377762928	chr3:136022117-136022118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188404472	chr3:136022129-136022130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538977572	chr3:136022236-136022237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141189641	chr3:136022329-136022330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566948936	chr3:136022369-136022370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535528814	chr3:136022374-136022375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150323861	chr3:136022412-136022413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13071533	chr3:136022413-136022414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193038166	chr3:136022431-136022432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112092503	chr3:136022444-136022445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185091309	chr3:136022445-136022446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189989849	chr3:136022490-136022491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373391426	chr3:136022529-136022530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111510216	chr3:136022618-136022619	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143406181	chr3:136022642-136022643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576632222	chr3:136022655-136022656	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545943318	chr3:136022715-136022716	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559222158	chr3:136022736-136022737	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147151856	chr3:136022801-136022802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201486488	chr3:136022826-136022827	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199925968	chr3:136022828-136022829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377299981	chr3:136022829-136022830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200423272	chr3:136022831-136022832	Weak transcription ZNF genes & repeats Strong transcription	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:235 , 50 per page) page: 1 2 3 4 5

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	chr3:135976200-136021600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:135981200-136052000	Weak transcription	NH-A	brain
4	chr3:135998000-136040200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:135999800-136038200	Weak transcription	Fetal Brain Male	brain
6	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
7	chr3:136000000-136024600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:136000200-136038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:136004600-136021400	Weak transcription	HMEC	breast
10	chr3:136004600-136022000	Weak transcription	NHDF-Ad	bronchial
11	chr3:136009400-136023000	Strong transcription	Dnd41	blood
12	chr3:136010000-136021000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:136010000-136021000	Strong transcription	Liver	Liver
14	chr3:136010200-136021200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:136010400-136021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:136010400-136021000	Strong transcription	Fetal Muscle Leg	muscle
17	chr3:136010400-136021000	Strong transcription	Fetal Stomach	stomach
18	chr3:136010600-136031400	Weak transcription	Stomach Mucosa	stomach
19	chr3:136011000-136024600	Weak transcription	Psoas Muscle	Psoas
20	chr3:136011200-136020800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:136011800-136021000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:136012000-136020800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:136012000-136020800	Strong transcription	Adipose Nuclei	Adipose
24	chr3:136012000-136021200	Strong transcription	Brain Substantia Nigra	brain
25	chr3:136012200-136021000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:136012200-136021200	Strong transcription	Brain Hippocampus Middle	brain
27	chr3:136012200-136021200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr3:136012400-136020800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr3:136012400-136021200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr3:136012600-136020800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:136012600-136020800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr3:136012600-136021000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:136012600-136024800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:136013600-136022000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:136014000-136020800	Strong transcription	K562	blood
36	chr3:136014200-136040000	Weak transcription	Small Intestine	intestine
37	chr3:136014600-136021000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:136015000-136038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:136015200-136021200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:136015400-136022000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:136015600-136020800	Strong transcription	Fetal Lung	lung
42	chr3:136015600-136020800	Strong transcription	Placenta	Placenta
43	chr3:136015800-136021000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr3:136015800-136021000	Strong transcription	Fetal Intestine Small	intestine
45	chr3:136015800-136021000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr3:136015800-136021000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:136015800-136021200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:136016000-136021200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:136016000-136021200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:136016200-136020800	Strong transcription	Fetal Intestine Large	intestine

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