Variant report

Variant	esv3404635
Chromosome Location	chr2:97068275-97070773
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	chr2:97061633..97063234-chr2:97066629..97068865,2	K562	blood:
2	chr2:97067572..97069379-chr2:97165094..97166698,2	K562	blood:

Variant related genes	Relation type
ENSG00000163121	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6755877	chr2:97068300-97068301	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561597490	chr2:97068301-97068302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6708401	chr2:97068314-97068315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183437885	chr2:97068337-97068338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs61341985	chr2:97068338-97068339	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534377021	chr2:97068348-97068349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138898344	chr2:97068349-97068350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571148696	chr2:97068405-97068406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537098832	chr2:97068451-97068452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556813267	chr2:97068456-97068457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117163475	chr2:97068499-97068500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142020780	chr2:97068532-97068533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78099340	chr2:97068533-97068534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529024795	chr2:97068543-97068544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10167897	chr2:97068567-97068568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572997385	chr2:97068574-97068575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs118100355	chr2:97068633-97068634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565417353	chr2:97068634-97068635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377517415	chr2:97068730-97068731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544652899	chr2:97068731-97068732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77287677	chr2:97068739-97068740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs583705	chr2:97068754-97068755	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs547321350	chr2:97068755-97068756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560442303	chr2:97068760-97068761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554843057	chr2:97068767-97068768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532784814	chr2:97068808-97068809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377721600	chr2:97068846-97068847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34063378	chr2:97068860-97068861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78598124	chr2:97068861-97068862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551187903	chr2:97068866-97068867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571344976	chr2:97068918-97068919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567094658	chr2:97068936-97068937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533647193	chr2:97068950-97068951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558577061	chr2:97068951-97068952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536624492	chr2:97068995-97068996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576875584	chr2:97068998-97068999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550125112	chr2:97069004-97069005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566943597	chr2:97069006-97069007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111617078	chr2:97069033-97069034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138405667	chr2:97069101-97069102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200987035	chr2:97069109-97069110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558768091	chr2:97069140-97069141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187591117	chr2:97069162-97069163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544194754	chr2:97069244-97069245	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191301539	chr2:97069258-97069259	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184556809	chr2:97069286-97069287	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187822501	chr2:97069309-97069310	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530099076	chr2:97069310-97069311	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374462469	chr2:97069348-97069349	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540920517	chr2:97069387-97069388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21990379	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97063000-97073200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:97064000-97069400	Weak transcription	Fetal Thymus	thymus
3	chr2:97065600-97073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97065800-97069400	Weak transcription	Pancreas	Pancrea
5	chr2:97065800-97073200	Weak transcription	Gastric	stomach
6	chr2:97065800-97073400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:97066000-97070200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:97066000-97070800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:97066200-97073000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:97066400-97069200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:97066400-97069200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:97066400-97069200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:97066600-97070400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:97068600-97069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:97069200-97069600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:97069200-97069600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:97069200-97071800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:97069200-97072000	Enhancers	Fetal Muscle Leg	muscle
19	chr2:97069400-97069600	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:97069400-97069600	Enhancers	Pancreas	Pancrea
21	chr2:97069400-97070600	Enhancers	Esophagus	oesophagus
22	chr2:97069400-97074800	Enhancers	Fetal Thymus	thymus
23	chr2:97069400-97075000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:97069600-97070400	Weak transcription	Pancreas	Pancrea
25	chr2:97069600-97070600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:97069600-97070800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:97069600-97071400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:97070200-97070600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:97070200-97071000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:97070200-97071200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr2:97070200-97073000	Enhancers	Thymus	Thymus
32	chr2:97070400-97070800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:97070400-97070800	Enhancers	Primary T cells from cord blood	blood
34	chr2:97070400-97070800	Weak transcription	Placenta	Placenta
35	chr2:97070400-97070800	Enhancers	Spleen	Spleen
36	chr2:97070400-97071000	Enhancers	Brain Germinal Matrix	brain
37	chr2:97070400-97071000	Enhancers	Lung	lung
38	chr2:97070400-97071000	Enhancers	Pancreas	Pancrea
39	chr2:97070400-97071000	Enhancers	Psoas Muscle	Psoas
40	chr2:97070400-97072800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:97070400-97072800	Enhancers	Brain Hippocampus Middle	brain
42	chr2:97070400-97073000	Enhancers	Brain Substantia Nigra	brain
43	chr2:97070400-97076000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:97070600-97070800	Enhancers	Stomach Mucosa	stomach
45	chr2:97070600-97071000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:97070600-97071800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:97070600-97072000	Enhancers	Brain Angular Gyrus	brain
48	chr2:97070600-97073000	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:97070600-97073000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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