Variant report

Variant	esv3416967
Chromosome Location	chr2:96589314-96593108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:96592228-96592459	HUVEC	blood vessel:	n/a	chr2:96592326-96592337

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 156 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373864583	chr2:96589330-96589331	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533602114	chr2:96589344-96589345	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550376996	chr2:96589399-96589400	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570410219	chr2:96589428-96589429	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75605953	chr2:96589452-96589453	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190860770	chr2:96589458-96589459	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183114345	chr2:96589459-96589460	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202190400	chr2:96589492-96589493	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533752390	chr2:96589597-96589598	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553464658	chr2:96589600-96589601	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576512780	chr2:96589718-96589719	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539275434	chr2:96589770-96589771	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112964917	chr2:96589791-96589792	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555934258	chr2:96589794-96589795	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112035344	chr2:96589806-96589807	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575968226	chr2:96589815-96589816	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148439079	chr2:96589819-96589820	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561991105	chr2:96589855-96589856	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572366511	chr2:96589871-96589872	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541402739	chr2:96589884-96589885	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564600687	chr2:96589930-96589931	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543565083	chr2:96589952-96589953	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142553504	chr2:96589960-96589961	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555551704	chr2:96589969-96589970	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563882197	chr2:96589991-96589992	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529441114	chr2:96590019-96590020	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549432650	chr2:96590031-96590032	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566328242	chr2:96590037-96590038	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573394823	chr2:96590114-96590115	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533585172	chr2:96590139-96590140	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572686541	chr2:96590141-96590142	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546964384	chr2:96590147-96590148	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570257406	chr2:96590192-96590193	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539134271	chr2:96590244-96590245	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150569297	chr2:96590254-96590255	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187701107	chr2:96590297-96590298	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540817527	chr2:96590367-96590368	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535606255	chr2:96590368-96590369	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555410967	chr2:96590370-96590371	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559282884	chr2:96590377-96590378	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572283845	chr2:96590410-96590411	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541485593	chr2:96590450-96590451	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558174510	chr2:96590479-96590480	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192693639	chr2:96590490-96590491	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532755578	chr2:96590570-96590571	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2696778	chr2:96590598-96590599	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184302165	chr2:96590671-96590672	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563743828	chr2:96590700-96590701	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188416825	chr2:96590723-96590724	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370060263	chr2:96590784-96590785	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
2	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
4	chr2:96543800-96596200	Weak transcription	K562	blood
5	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
8	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
10	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:96574600-96627600	Weak transcription	HSMM	muscle
15	chr2:96575000-96600600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:96575200-96589800	Weak transcription	Colonic Mucosa	Colon
17	chr2:96575800-96592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:96575800-96595600	Strong transcription	Dnd41	blood
19	chr2:96576000-96594800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:96576400-96590400	Weak transcription	Right Ventricle	heart
21	chr2:96576600-96596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:96576800-96596200	Weak transcription	Spleen	Spleen
23	chr2:96576800-96616200	Weak transcription	Brain Germinal Matrix	brain
24	chr2:96577600-96590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:96577600-96591600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:96577600-96592600	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:96577600-96593400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:96577600-96600200	Weak transcription	A549	lung
29	chr2:96577800-96593200	Weak transcription	NHEK	skin
30	chr2:96577800-96594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:96577800-96595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:96577800-96596400	Weak transcription	Brain Substantia Nigra	brain
33	chr2:96577800-96603400	Weak transcription	Osteobl	bone
34	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
35	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:96578000-96645000	Weak transcription	NH-A	brain
38	chr2:96579000-96596600	Weak transcription	GM12878-XiMat	blood
39	chr2:96580000-96594400	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:96580200-96594400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:96580600-96592000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:96580600-96595600	Weak transcription	Fetal Brain Female	brain
43	chr2:96580800-96593200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:96581400-96617000	Weak transcription	Pancreas	Pancrea
45	chr2:96581600-96589400	Weak transcription	HSMMtube	muscle
46	chr2:96582000-96601800	Weak transcription	Small Intestine	intestine
47	chr2:96582000-96605800	Weak transcription	Fetal Intestine Small	intestine
48	chr2:96582600-96596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:96582800-96595400	Weak transcription	Primary B cells from cord blood	blood
50	chr2:96582800-96656400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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