Variant report

Variant	esv3376372
Chromosome Location	chr13:49739001-49741499
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	chr13:49738507..49740067-chr13:49743815..49746234,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142591152	chr13:49739068-49739069	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567508543	chr13:49739110-49739111	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144036226	chr13:49739116-49739117	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556167622	chr13:49739163-49739164	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148701533	chr13:49739182-49739183	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75865755	chr13:49739192-49739193	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533305083	chr13:49739278-49739279	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560461195	chr13:49739325-49739326	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546829335	chr13:49739346-49739347	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77449807	chr13:49739368-49739369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540812873	chr13:49739428-49739429	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562153235	chr13:49739452-49739453	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574228930	chr13:49739470-49739471	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371872697	chr13:49739476-49739477	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190294872	chr13:49739478-49739479	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566610042	chr13:49739490-49739491	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139266501	chr13:49739504-49739505	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4294713	chr13:49739545-49739546	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551391452	chr13:49739549-49739550	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117519460	chr13:49739579-49739580	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374683401	chr13:49739634-49739635	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147703306	chr13:49739659-49739660	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569120165	chr13:49739705-49739706	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549112760	chr13:49739718-49739719	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117816089	chr13:49739746-49739747	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140795633	chr13:49739750-49739751	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550083655	chr13:49739765-49739766	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571591520	chr13:49739792-49739793	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113685801	chr13:49739835-49739836	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553844370	chr13:49739871-49739872	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572066552	chr13:49739878-49739879	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181939173	chr13:49739921-49739922	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555903144	chr13:49740041-49740042	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574169489	chr13:49740060-49740061	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544439010	chr13:49740086-49740087	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116513584	chr13:49740127-49740128	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9596067	chr13:49740167-49740168	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577118505	chr13:49740236-49740237	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539636338	chr13:49740254-49740255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185689698	chr13:49740274-49740275	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs116024755	chr13:49740279-49740280	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527755145	chr13:49740344-49740345	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113088388	chr13:49740371-49740372	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561466848	chr13:49740414-49740415	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572956115	chr13:49740501-49740502	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531383046	chr13:49740518-49740519	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61949504	chr13:49740525-49740526	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145816839	chr13:49740553-49740554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190560467	chr13:49740554-49740555	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547370463	chr13:49740612-49740613	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49706000-49748200	Weak transcription	K562	blood
3	chr13:49720600-49742200	Weak transcription	Hela-S3	cervix
4	chr13:49721800-49751400	Weak transcription	NH-A	brain
5	chr13:49722800-49752800	Weak transcription	Psoas Muscle	Psoas
6	chr13:49724400-49742200	Weak transcription	HUVEC	blood vessel
7	chr13:49724400-49765000	Weak transcription	A549	lung
8	chr13:49735200-49739800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:49735400-49740000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr13:49735400-49740400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:49735600-49739800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr13:49735800-49739200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr13:49736400-49739200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr13:49736400-49739600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:49736400-49739800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:49736400-49739800	ZNF genes & repeats	Fetal Brain Female	brain
17	chr13:49736400-49740200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:49736400-49740800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:49736400-49760000	Weak transcription	NHLF	lung
20	chr13:49736600-49739200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr13:49736600-49739800	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr13:49737000-49740800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:49737200-49739200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr13:49737200-49739200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:49737200-49739200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:49737200-49739200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr13:49737200-49739600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:49737200-49739600	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr13:49737200-49739800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr13:49737200-49740200	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr13:49737400-49739200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr13:49737400-49739200	ZNF genes & repeats	Colon Smooth Muscle	Colon
33	chr13:49737400-49739200	ZNF genes & repeats	Placenta	Placenta
34	chr13:49737400-49739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr13:49737400-49739600	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr13:49737400-49740000	Strong transcription	Rectal Smooth Muscle	rectum
37	chr13:49737600-49739200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:49737600-49739400	ZNF genes & repeats	Fetal Lung	lung
39	chr13:49737600-49739800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr13:49737600-49739800	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr13:49737600-49739800	ZNF genes & repeats	Fetal Kidney	kidney
42	chr13:49737600-49744400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr13:49737600-49747000	Strong transcription	HepG2	liver
44	chr13:49737800-49739200	Weak transcription	Colonic Mucosa	Colon
45	chr13:49737800-49739200	Strong transcription	Fetal Thymus	thymus
46	chr13:49737800-49739600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:49737800-49739600	Weak transcription	Right Ventricle	heart
48	chr13:49737800-49739800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:49737800-49739800	Weak transcription	Gastric	stomach
50	chr13:49737800-49739800	Weak transcription	Spleen	Spleen

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