Variant report

Variant	esv1816240
Chromosome Location	chr3:136020975-136026101
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	chr3:136010183..136011753-chr3:136025540..136027566,2	K562	blood:
4	chr3:136024388..136025351-chr3:136470886..136471672,6	MCF-7	breast:
5	chr3:136014329..136016765-chr3:136018806..136021350,2	MCF-7	breast:
6	chr3:136025488..136027450-chr3:136031580..136034154,2	K562	blood:

Variant related genes	Relation type
ENSG00000261758	chromatin interactions
ENSG00000118007	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1711170	chr3:136020975-136020976	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192676509	chr3:136020976-136020977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200775111	chr3:136020987-136020988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60479824	chr3:136021004-136021005	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34153877	chr3:136021052-136021053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75952291	chr3:136021080-136021081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543244456	chr3:136021158-136021159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563127653	chr3:136021180-136021181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532141938	chr3:136021196-136021197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545604221	chr3:136021257-136021258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145660790	chr3:136021319-136021320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146516051	chr3:136021425-136021426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183209265	chr3:136021532-136021533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9852811	chr3:136021647-136021648	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144763543	chr3:136021677-136021678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148251226	chr3:136021799-136021800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571068580	chr3:136021843-136021844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369362344	chr3:136022017-136022018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377762928	chr3:136022117-136022118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188404472	chr3:136022129-136022130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538977572	chr3:136022236-136022237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141189641	chr3:136022329-136022330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566948936	chr3:136022369-136022370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535528814	chr3:136022374-136022375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150323861	chr3:136022412-136022413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13071533	chr3:136022413-136022414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193038166	chr3:136022431-136022432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112092503	chr3:136022444-136022445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185091309	chr3:136022445-136022446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189989849	chr3:136022490-136022491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373391426	chr3:136022529-136022530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111510216	chr3:136022618-136022619	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143406181	chr3:136022642-136022643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576632222	chr3:136022655-136022656	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545943318	chr3:136022715-136022716	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559222158	chr3:136022736-136022737	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147151856	chr3:136022801-136022802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201486488	chr3:136022826-136022827	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199925968	chr3:136022828-136022829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377299981	chr3:136022829-136022830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200423272	chr3:136022831-136022832	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112359805	chr3:136022850-136022851	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191651322	chr3:136022940-136022941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113234934	chr3:136022963-136022964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370943097	chr3:136022993-136022994	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61789603	chr3:136023011-136023012	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183802545	chr3:136023036-136023037	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572109880	chr3:136023078-136023079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs140168777	chr3:136023095-136023096	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs187965823	chr3:136023213-136023214	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:214 , 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	chr3:136011800-136021000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:136012000-136021200	Strong transcription	Brain Substantia Nigra	brain
22	chr3:136012200-136021000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:136012200-136021200	Strong transcription	Brain Hippocampus Middle	brain
24	chr3:136012200-136021200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr3:136012400-136021200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr3:136012600-136021000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:136012600-136024800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr3:136013600-136022000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:136014200-136040000	Weak transcription	Small Intestine	intestine
30	chr3:136014600-136021000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:136015000-136038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:136015200-136021200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:136015400-136022000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:136015800-136021000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:136015800-136021000	Strong transcription	Fetal Intestine Small	intestine
36	chr3:136015800-136021000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr3:136015800-136021000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:136015800-136021200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:136016000-136021200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:136016000-136021200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:136016200-136021000	Strong transcription	Brain Anterior Caudate	brain
42	chr3:136016400-136021000	Strong transcription	Gastric	stomach
43	chr3:136016400-136021000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr3:136016400-136021000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:136016400-136021000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:136016400-136038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:136016600-136021000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:136016600-136022200	Weak transcription	NHLF	lung
49	chr3:136016800-136045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:136017000-136022200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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