Variant report

Variant	esv1010377
Chromosome Location	chr3:136402158-136407687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136405715..136407497-chr3:136411173..136412850,2	K562	blood:

Extended variants
information (count: 228 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535067483	chr3:136402169-136402170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576626597	chr3:136402225-136402226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7637129	chr3:136402293-136402294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs550824837	chr3:136402319-136402320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187266369	chr3:136402365-136402366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191732515	chr3:136402388-136402389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540095742	chr3:136402445-136402446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560383326	chr3:136402499-136402500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142663657	chr3:136402512-136402513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542967941	chr3:136402516-136402517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113350497	chr3:136402534-136402535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562025518	chr3:136402552-136402553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530936023	chr3:136402573-136402574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78205067	chr3:136402584-136402585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146041531	chr3:136402621-136402622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533562033	chr3:136402623-136402624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546912489	chr3:136402663-136402664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201055388	chr3:136402732-136402733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183805616	chr3:136402733-136402734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528341298	chr3:136402746-136402747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377506251	chr3:136402748-136402749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566801031	chr3:136402769-136402770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535719404	chr3:136402800-136402801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549275575	chr3:136402898-136402899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568469066	chr3:136403037-136403038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138635522	chr3:136403077-136403078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141259418	chr3:136403105-136403106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558672361	chr3:136403136-136403137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533970051	chr3:136403147-136403148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188326281	chr3:136403157-136403158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573898925	chr3:136403172-136403173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542900667	chr3:136403178-136403179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201312576	chr3:136403270-136403271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13085112	chr3:136403303-136403304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs13085113	chr3:136403304-136403305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111557120	chr3:136403312-136403313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561708117	chr3:136403313-136403314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562772479	chr3:136403320-136403321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180849591	chr3:136403363-136403364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544318652	chr3:136403364-136403365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150737042	chr3:136403378-136403379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533294256	chr3:136403394-136403395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13085569	chr3:136403401-136403402	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13065277	chr3:136403403-136403404	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13065296	chr3:136403422-136403423	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13085260	chr3:136403423-136403424	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185682111	chr3:136403433-136403434	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13065311	chr3:136403445-136403446	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13085256	chr3:136403446-136403447	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370255811	chr3:136403469-136403470	Weak transcription ZNF genes & repeats Enhancers	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136381800-136410800	Weak transcription	Psoas Muscle	Psoas
2	chr3:136386400-136412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:136387200-136412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:136390200-136413000	Weak transcription	Pancreas	Pancrea
5	chr3:136390600-136412000	Weak transcription	Thymus	Thymus
6	chr3:136390800-136407200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:136390800-136447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:136393800-136408400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:136394200-136409800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:136395000-136404800	Weak transcription	Fetal Heart	heart
11	chr3:136395000-136407600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:136395000-136410200	Weak transcription	Small Intestine	intestine
13	chr3:136395000-136418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:136395400-136407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:136396000-136404800	Weak transcription	Left Ventricle	heart
16	chr3:136396600-136407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:136396600-136411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:136398600-136410200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:136400600-136412000	Weak transcription	Primary B cells from cord blood	blood
20	chr3:136400800-136407400	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:136401000-136403400	Weak transcription	Fetal Intestine Small	intestine
22	chr3:136401400-136402200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:136402000-136402400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr3:136402400-136409000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr3:136402800-136404400	Weak transcription	Spleen	Spleen
26	chr3:136403400-136403600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr3:136403400-136403600	Enhancers	Lung	lung
28	chr3:136403600-136408600	Weak transcription	Lung	lung
29	chr3:136403600-136410800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:136404800-136405400	Enhancers	Fetal Heart	heart
31	chr3:136404800-136405400	Enhancers	Left Ventricle	heart
32	chr3:136404800-136410600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:136405000-136405400	Enhancers	K562	blood
34	chr3:136405000-136405600	ZNF genes & repeats	GM12878-XiMat	blood
35	chr3:136405000-136412400	Weak transcription	Fetal Intestine Small	intestine
36	chr3:136405200-136405400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:136405200-136405400	Enhancers	HepG2	liver
38	chr3:136405200-136406000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr3:136405400-136407400	Weak transcription	HepG2	liver
40	chr3:136405400-136407800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:136405400-136409200	Weak transcription	K562	blood
42	chr3:136405400-136410200	Weak transcription	Left Ventricle	heart
43	chr3:136405400-136413000	Weak transcription	Fetal Heart	heart
44	chr3:136405600-136406000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:136405600-136410200	Weak transcription	GM12878-XiMat	blood
46	chr3:136406000-136408000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:136406200-136409800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:136407200-136407400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr3:136407200-136407800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:136407400-136407600	Enhancers	HepG2	liver

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