Variant report

Variant	esv2762272
Chromosome Location	chr2:111794388-111797920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111794052..111795949-chr2:111798956..111801349,2	K562	blood:
2	chr2:111797842..111799578-chr2:111876681..111878505,2	K562	blood:
3	chr2:111789979..111793920-chr2:111796275..111799559,5	MCF-7	breast:
4	chr2:111793135..111797260-chr2:111872008..111874817,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153094	chromatin interactions
ENSG00000204581	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3789085	chr2:111794388-111794389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs368142084	chr2:111794413-111794414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565250714	chr2:111794421-111794422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116378778	chr2:111794431-111794432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529396054	chr2:111794497-111794498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575535350	chr2:111794636-111794637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374621348	chr2:111794714-111794715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549482154	chr2:111794715-111794716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544915874	chr2:111794724-111794725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs3789084	chr2:111794736-111794737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531735699	chr2:111794739-111794740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552107380	chr2:111794742-111794743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374392166	chr2:111794866-111794867	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372030011	chr2:111794885-111794886	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534421484	chr2:111794896-111794897	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530355941	chr2:111794898-111794899	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371991016	chr2:111794962-111794963	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547650734	chr2:111794984-111794985	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567828478	chr2:111794997-111794998	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535210021	chr2:111795014-111795015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3827541	chr2:111795025-111795026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181601563	chr2:111795095-111795096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559493296	chr2:111795112-111795113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186366893	chr2:111795120-111795121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528160496	chr2:111795181-111795182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191269727	chr2:111795187-111795188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577829621	chr2:111795279-111795280	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540498066	chr2:111795283-111795284	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560123022	chr2:111795296-111795297	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372784186	chr2:111795302-111795303	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182624138	chr2:111795304-111795305	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12473954	chr2:111795319-111795320	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562924703	chr2:111795396-111795397	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531748237	chr2:111795402-111795403	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551765659	chr2:111795426-111795427	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565596217	chr2:111795435-111795436	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368888973	chr2:111795452-111795453	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113761321	chr2:111795467-111795468	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528006940	chr2:111795488-111795489	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7602030	chr2:111795509-111795510	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567806183	chr2:111795522-111795523	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537153668	chr2:111795545-111795546	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186556080	chr2:111795550-111795551	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143798034	chr2:111795570-111795571	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190991607	chr2:111795613-111795614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs3789083	chr2:111795655-111795656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs147250719	chr2:111795704-111795705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571205509	chr2:111795749-111795750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148478233	chr2:111795760-111795761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141810203	chr2:111795769-111795770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111786000-111795800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:111787400-111795600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:111787800-111825400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:111788200-111799200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:111790800-111799200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:111790800-111800200	Weak transcription	Spleen	Spleen
7	chr2:111791200-111794600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:111791200-111795600	Weak transcription	Gastric	stomach
9	chr2:111791200-111795800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:111792400-111796600	Weak transcription	Fetal Lung	lung
11	chr2:111792400-111797200	Weak transcription	Fetal Heart	heart
12	chr2:111792800-111797200	Weak transcription	Fetal Intestine Small	intestine
13	chr2:111792800-111801600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:111793000-111796600	Weak transcription	Fetal Kidney	kidney
15	chr2:111793400-111796000	Enhancers	Primary B cells from cord blood	blood
16	chr2:111793400-111796000	Enhancers	Fetal Thymus	thymus
17	chr2:111793600-111795400	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:111793600-111795400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:111794000-111795200	Enhancers	GM12878-XiMat	blood
20	chr2:111794600-111795200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:111794600-111798600	Enhancers	Primary T cells from cord blood	blood
22	chr2:111794800-111795000	Bivalent Enhancer	NHEK	skin
23	chr2:111795200-111795600	Bivalent Enhancer	GM12878-XiMat	blood
24	chr2:111795400-111800000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:111795600-111795800	Enhancers	Gastric	stomach
26	chr2:111795800-111799600	Weak transcription	Gastric	stomach
27	chr2:111795800-111800400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:111795800-111800600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:111796000-111796400	Weak transcription	Primary B cells from cord blood	blood
30	chr2:111796000-111797200	Weak transcription	Fetal Thymus	thymus
31	chr2:111796400-111796600	Enhancers	Primary B cells from cord blood	blood
32	chr2:111796600-111797800	Enhancers	Fetal Kidney	kidney
33	chr2:111796600-111798200	Enhancers	Fetal Lung	lung
34	chr2:111796600-111800400	Weak transcription	Primary B cells from cord blood	blood
35	chr2:111797200-111797600	Enhancers	Fetal Heart	heart
36	chr2:111797200-111797800	Enhancers	Fetal Intestine Small	intestine
37	chr2:111797200-111798400	Enhancers	Fetal Thymus	thymus
38	chr2:111797600-111798600	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:111797600-111799200	Weak transcription	Fetal Heart	heart
40	chr2:111797800-111801400	Weak transcription	Fetal Intestine Small	intestine
41	chr2:111797800-111806600	Weak transcription	Fetal Kidney	kidney

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