Variant report

Variant	esv3461178
Chromosome Location	chr3:136019062-136028160
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	chr3:136012746..136014476-chr3:136025907..136027620,2	K562	blood:
3	chr3:136014329..136016765-chr3:136018806..136021350,2	MCF-7	breast:
4	chr3:136025488..136027450-chr3:136031580..136034154,2	K562	blood:
5	chr3:136024808..136025625-chr3:136470874..136471604,2	MCF-7	breast:
6	chr3:136024388..136025351-chr3:136470886..136471672,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261758	chromatin interactions
ENSG00000118007	chromatin interactions

Extended variants
information (count: 308 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573602659	chr3:136019071-136019072	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536501204	chr3:136019074-136019075	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542210720	chr3:136019083-136019084	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556824024	chr3:136019091-136019092	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373267407	chr3:136019105-136019106	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576316979	chr3:136019106-136019107	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150085851	chr3:136019109-136019110	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148409110	chr3:136019118-136019119	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565111911	chr3:136019143-136019144	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527812037	chr3:136019144-136019145	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55797013	chr3:136019204-136019205	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369385329	chr3:136019210-136019211	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373009329	chr3:136019214-136019215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144877618	chr3:136019215-136019216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564987865	chr3:136019248-136019249	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549899571	chr3:136019262-136019263	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569222703	chr3:136019263-136019264	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376236317	chr3:136019311-136019312	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189267588	chr3:136019354-136019355	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371152820	chr3:136019358-136019359	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571483441	chr3:136019468-136019469	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180953245	chr3:136019471-136019472	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547471078	chr3:136019484-136019485	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555378249	chr3:136019532-136019533	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536283615	chr3:136019570-136019571	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555735768	chr3:136019583-136019584	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576353782	chr3:136019585-136019586	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538928968	chr3:136019635-136019636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558799550	chr3:136019639-136019640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185030675	chr3:136019648-136019649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576352252	chr3:136019649-136019650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541227906	chr3:136019661-136019662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79166979	chr3:136019685-136019686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574835010	chr3:136019689-136019690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543828605	chr3:136019724-136019725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563657921	chr3:136019744-136019745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189494066	chr3:136019758-136019759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376144036	chr3:136019768-136019769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78856847	chr3:136019781-136019782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558548355	chr3:136019787-136019788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181865261	chr3:136019792-136019793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547264742	chr3:136019799-136019800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572171173	chr3:136019814-136019815	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186768224	chr3:136019840-136019841	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373520580	chr3:136019862-136019863	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535943678	chr3:136019868-136019869	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529298623	chr3:136019869-136019870	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549397464	chr3:136019876-136019877	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147379583	chr3:136019877-136019878	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139600424	chr3:136019893-136019894	Weak transcription Genic enhancers 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:291 , 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	chr3:136001200-136019200	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:136004600-136021400	Weak transcription	HMEC	breast
12	chr3:136004600-136022000	Weak transcription	NHDF-Ad	bronchial
13	chr3:136005200-136019200	Weak transcription	Osteobl	bone
14	chr3:136009400-136023000	Strong transcription	Dnd41	blood
15	chr3:136010000-136021000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:136010000-136021000	Strong transcription	Liver	Liver
17	chr3:136010200-136021200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:136010400-136021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:136010400-136021000	Strong transcription	Fetal Muscle Leg	muscle
20	chr3:136010400-136021000	Strong transcription	Fetal Stomach	stomach
21	chr3:136010600-136031400	Weak transcription	Stomach Mucosa	stomach
22	chr3:136010800-136020600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:136011000-136024600	Weak transcription	Psoas Muscle	Psoas
24	chr3:136011200-136020800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:136011800-136020600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:136011800-136021000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:136012000-136020800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:136012000-136020800	Strong transcription	Adipose Nuclei	Adipose
29	chr3:136012000-136021200	Strong transcription	Brain Substantia Nigra	brain
30	chr3:136012200-136020600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:136012200-136020600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr3:136012200-136021000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:136012200-136021200	Strong transcription	Brain Hippocampus Middle	brain
34	chr3:136012200-136021200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr3:136012400-136020800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:136012400-136021200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr3:136012600-136020600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:136012600-136020800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:136012600-136020800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr3:136012600-136021000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:136012600-136024800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr3:136012800-136019800	Weak transcription	HSMMtube	muscle
43	chr3:136013600-136019800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:136013600-136020600	Strong transcription	Primary B cells from cord blood	blood
45	chr3:136013600-136020600	Strong transcription	Fetal Brain Female	brain
46	chr3:136013600-136022000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr3:136014000-136020800	Strong transcription	K562	blood
48	chr3:136014200-136040000	Weak transcription	Small Intestine	intestine
49	chr3:136014600-136021000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:136015000-136038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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