Variant report

Variant	esv3392280
Chromosome Location	chr13:92193762-92217325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92127298..92129816-chr13:92213589..92216245,2	K562	blood:
2	chr13:92064271..92067451-chr13:92214102..92216956,3	K562	blood:
3	chr13:92196711..92199181-chr13:92203111..92205977,3	K562	blood:
4	chr13:91999148..92001572-chr13:92198977..92201906,2	MCF-7	breast:
5	chr13:92210121..92212053-chr13:92229596..92232214,2	K562	blood:
6	chr13:92193090..92195790-chr13:92201867..92204371,2	K562	blood:
7	chr13:92208317..92211893-chr13:92214191..92217203,4	K562	blood:
8	chr13:92049894..92051792-chr13:92212556..92214796,2	K562	blood:
9	chr13:92197322..92199181-chr13:92203586..92205977,3	K562	blood:
10	chr13:92195959..92198625-chr13:92200730..92202356,2	K562	blood:
11	chr13:92214626..92216806-chr13:92217477..92220350,2	K562	blood:
12	chr13:92208317..92211893-chr13:92214191..92217203,4	K562	blood:
13	chr13:92212560..92214480-chr13:92214711..92216688,2	K562	blood:
14	chr13:92193090..92195790-chr13:92201867..92204371,2	K562	blood:
15	chr13:91997573..92000500-chr13:92197816..92200418,3	K562	blood:
16	chr13:91998683..92002354-chr13:92190379..92194813,6	K562	blood:
17	chr13:92184682..92187279-chr13:92198091..92201088,2	K562	blood:
18	chr13:92206151..92208755-chr13:92211043..92213687,2	K562	blood:
19	chr13:91997573..92000500-chr13:92197852..92200418,3	K562	blood:
20	chr13:92005893..92007977-chr13:92204447..92207265,2	K562	blood:
21	chr13:92200166..92202892-chr13:92208902..92210980,2	K562	blood:
22	chr13:92003266..92005841-chr13:92209741..92212578,2	K562	blood:
23	chr13:92013384..92016331-chr13:92208566..92210959,3	K562	blood:
24	chr13:91997554..92002625-chr13:92192579..92196713,8	K562	blood:
25	chr13:92206151..92208755-chr13:92211043..92213687,2	K562	blood:
26	chr13:92028387..92031350-chr13:92205287..92208188,2	K562	blood:
27	chr13:92010600..92013246-chr13:92212301..92213807,2	K562	blood:
28	chr13:92204695..92207651-chr13:92210749..92212543,2	K562	blood:
29	chr13:92007765..92009366-chr13:92214136..92216197,2	K562	blood:
30	chr13:92013762..92017162-chr13:92191310..92194678,3	K562	blood:
31	chr13:92196711..92199181-chr13:92203111..92205977,3	K562	blood:
32	chr13:91999463..92003203-chr13:92216972..92220582,4	K562	blood:
33	chr13:92008752..92010349-chr13:92203596..92205345,2	K562	blood:
34	chr13:92212560..92214480-chr13:92214711..92216688,2	K562	blood:
35	chr13:92200166..92202892-chr13:92208902..92210980,2	K562	blood:
36	chr13:92106168..92109091-chr13:92193119..92195510,2	K562	blood:
37	chr13:92010929..92013926-chr13:92211896..92214067,2	K562	blood:
38	chr13:92186485..92189020-chr13:92193500..92196051,3	K562	blood:
39	chr13:92195959..92198625-chr13:92200730..92202356,2	K562	blood:
40	chr13:92015353..92017050-chr13:92205508..92207403,2	K562	blood:
41	chr13:92000817..92003388-chr13:92213282..92215654,2	K562	blood:
42	chr13:92196622..92200535-chr13:92219844..92223399,3	K562	blood:
43	chr13:92197322..92199181-chr13:92203586..92205977,3	K562	blood:
44	chr13:92204695..92207651-chr13:92210749..92212543,2	K562	blood:
45	chr13:92216303..92218322-chr13:92375476..92377314,2	K562	blood:
46	chr13:92008301..92012941-chr13:92190227..92194060,8	K562	blood:
47	chr13:92044141..92045883-chr13:92197242..92200022,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179399	chromatin interactions
ENSG00000215417	chromatin interactions

Extended variants
information (count: 617 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539797611	chr13:92193807-92193808	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574531757	chr13:92193856-92193857	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554663165	chr13:92193892-92193893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559729822	chr13:92193923-92193924	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559590678	chr13:92193952-92193953	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9515936	chr13:92193973-92193974	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114742207	chr13:92193994-92193995	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545516790	chr13:92193997-92193998	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117925023	chr13:92194039-92194040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531570226	chr13:92194049-92194050	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548178947	chr13:92194088-92194089	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199902437	chr13:92194095-92194096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201621505	chr13:92194097-92194098	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71200550	chr13:92194099-92194100	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61326190	chr13:92194100-92194101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200118995	chr13:92194101-92194102	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200944947	chr13:92194102-92194103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568388044	chr13:92194147-92194148	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189893413	chr13:92194148-92194149	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12583138	chr13:92194193-92194194	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570871463	chr13:92194223-92194224	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201081527	chr13:92194249-92194250	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35495593	chr13:92194253-92194254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs67065427	chr13:92194273-92194274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs57504995	chr13:92194289-92194290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200297677	chr13:92194290-92194291	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372967633	chr13:92194292-92194293	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs202150017	chr13:92194293-92194294	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200452137	chr13:92194296-92194297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542954759	chr13:92194369-92194370	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182510356	chr13:92194428-92194429	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185885545	chr13:92194430-92194431	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556367162	chr13:92194442-92194443	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190604934	chr13:92194453-92194454	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147797254	chr13:92194458-92194459	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs71716473	chr13:92194461-92194462	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554270170	chr13:92194499-92194500	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183805014	chr13:92194511-92194512	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555686632	chr13:92194571-92194572	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572367226	chr13:92194580-92194581	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375516254	chr13:92194653-92194654	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541343760	chr13:92194673-92194674	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553323770	chr13:92194783-92194784	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139996043	chr13:92194792-92194793	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs118003607	chr13:92194838-92194839	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs74902747	chr13:92194856-92194857	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531401717	chr13:92194897-92194898	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541959935	chr13:92194904-92194905	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561742409	chr13:92195011-92195012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188685337	chr13:92195012-92195013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92191000-92195000	Enhancers	Fetal Intestine Large	intestine
2	chr13:92191400-92194800	Enhancers	Fetal Intestine Small	intestine
3	chr13:92191600-92193800	Enhancers	Fetal Lung	lung
4	chr13:92193200-92193800	Enhancers	K562	blood
5	chr13:92193800-92194400	Weak transcription	K562	blood
6	chr13:92194400-92194800	ZNF genes & repeats	K562	blood
7	chr13:92195800-92196600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:92196000-92196600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:92196600-92197200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:92196600-92197200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:92197000-92197400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:92197000-92197400	Enhancers	Brain Angular Gyrus	brain
13	chr13:92197000-92197400	Enhancers	Brain Anterior Caudate	brain
14	chr13:92197000-92197400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr13:92197200-92197400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:92197200-92197400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:92199200-92199600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr13:92208800-92210800	Weak transcription	Right Atrium	heart
19	chr13:92210800-92211000	ZNF genes & repeats	Right Atrium	heart
20	chr13:92211000-92215800	Weak transcription	Right Atrium	heart
21	chr13:92215800-92216200	ZNF genes & repeats	Right Atrium	heart
22	chr13:92216200-92216400	Enhancers	Right Atrium	heart
23	chr13:92216200-92216600	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links