Variant report

Variant	esv3489488
Chromosome Location	chr3:136020287-136027210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136010183..136011753-chr3:136025540..136027566,2	K562	blood:
2	chr3:136024388..136025351-chr3:136470886..136471672,6	MCF-7	breast:
3	chr3:136024808..136025625-chr3:136470874..136471604,2	MCF-7	breast:
4	chr3:136012746..136014476-chr3:136025907..136027620,2	K562	blood:
5	chr3:136025488..136027450-chr3:136031580..136034154,2	K562	blood:
6	chr3:136014329..136016765-chr3:136018806..136021350,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261758	chromatin interactions
ENSG00000118007	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs3732520	chr3:136020295-136020296	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151097334	chr3:136020301-136020302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183071098	chr3:136020317-136020318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555211622	chr3:136020351-136020352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199725173	chr3:136020360-136020361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186395314	chr3:136020385-136020386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557498136	chr3:136020397-136020398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577407393	chr3:136020448-136020449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190153467	chr3:136020449-136020450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71336055	chr3:136020454-136020455	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572336661	chr3:136020512-136020513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1711171	chr3:136020541-136020542	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs561207043	chr3:136020543-136020544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569180506	chr3:136020565-136020566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139759409	chr3:136020572-136020573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149802224	chr3:136020611-136020612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563093203	chr3:136020644-136020645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532058684	chr3:136020660-136020661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369339366	chr3:136020694-136020695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559407518	chr3:136020717-136020718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145694290	chr3:136020733-136020734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528063109	chr3:136020745-136020746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182419798	chr3:136020755-136020756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568695908	chr3:136020779-136020780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186754863	chr3:136020839-136020840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577224819	chr3:136020841-136020842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557585312	chr3:136020864-136020865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528155107	chr3:136020893-136020894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535655066	chr3:136020896-136020897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570983648	chr3:136020911-136020912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548311926	chr3:136020944-136020945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148931677	chr3:136020948-136020949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1711170	chr3:136020975-136020976	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs192676509	chr3:136020976-136020977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200775111	chr3:136020987-136020988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60479824	chr3:136021004-136021005	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34153877	chr3:136021052-136021053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75952291	chr3:136021080-136021081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543244456	chr3:136021158-136021159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563127653	chr3:136021180-136021181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532141938	chr3:136021196-136021197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545604221	chr3:136021257-136021258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145660790	chr3:136021319-136021320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146516051	chr3:136021425-136021426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183209265	chr3:136021532-136021533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9852811	chr3:136021647-136021648	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144763543	chr3:136021677-136021678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148251226	chr3:136021799-136021800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571068580	chr3:136021843-136021844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369362344	chr3:136022017-136022018	Weak transcription 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:262 , 50 per page) page: 1 2 3 4 5 6

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	chr3:135981600-136020400	Weak transcription	HUVEC	blood vessel
5	chr3:135998000-136040200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:135999800-136038200	Weak transcription	Fetal Brain Male	brain
7	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
8	chr3:136000000-136024600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:136000200-136038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:136004600-136021400	Weak transcription	HMEC	breast
11	chr3:136004600-136022000	Weak transcription	NHDF-Ad	bronchial
12	chr3:136009400-136023000	Strong transcription	Dnd41	blood
13	chr3:136010000-136021000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:136010000-136021000	Strong transcription	Liver	Liver
15	chr3:136010200-136021200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:136010400-136021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:136010400-136021000	Strong transcription	Fetal Muscle Leg	muscle
18	chr3:136010400-136021000	Strong transcription	Fetal Stomach	stomach
19	chr3:136010600-136031400	Weak transcription	Stomach Mucosa	stomach
20	chr3:136010800-136020600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:136011000-136024600	Weak transcription	Psoas Muscle	Psoas
22	chr3:136011200-136020800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:136011800-136020600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:136011800-136021000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:136012000-136020800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:136012000-136020800	Strong transcription	Adipose Nuclei	Adipose
27	chr3:136012000-136021200	Strong transcription	Brain Substantia Nigra	brain
28	chr3:136012200-136020600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:136012200-136020600	Strong transcription	Brain Cingulate Gyrus	brain
30	chr3:136012200-136021000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:136012200-136021200	Strong transcription	Brain Hippocampus Middle	brain
32	chr3:136012200-136021200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr3:136012400-136020800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr3:136012400-136021200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr3:136012600-136020600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:136012600-136020800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:136012600-136020800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr3:136012600-136021000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:136012600-136024800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr3:136013600-136020600	Strong transcription	Primary B cells from cord blood	blood
41	chr3:136013600-136020600	Strong transcription	Fetal Brain Female	brain
42	chr3:136013600-136022000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:136014000-136020800	Strong transcription	K562	blood
44	chr3:136014200-136040000	Weak transcription	Small Intestine	intestine
45	chr3:136014600-136021000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:136015000-136038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:136015200-136021200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:136015400-136022000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:136015600-136020800	Strong transcription	Fetal Lung	lung
50	chr3:136015600-136020800	Strong transcription	Placenta	Placenta

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