Variant report

Variant	esv2585417
Chromosome Location	chr2:99233761-99235142
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	chr2:99223609..99227969-chr2:99231004..99234291,6	MCF-7	breast:
2	chr2:99233497..99236198-chr2:99236599..99238658,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183513	chromatin interactions
ENSG00000115446	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3820941	chr2:99233781-99233782	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372298336	chr2:99233794-99233795	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555363402	chr2:99233809-99233810	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540893108	chr2:99233814-99233815	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563134223	chr2:99233840-99233841	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188400711	chr2:99233865-99233866	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs367949179	chr2:99233869-99233870	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs3769698	chr2:99233894-99233895	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs201989473	chr2:99233919-99233920	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191536994	chr2:99233966-99233967	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569411134	chr2:99233979-99233980	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528923398	chr2:99233989-99233990	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555066693	chr2:99233993-99233994	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201158564	chr2:99234023-99234024	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201547901	chr2:99234024-99234025	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs3835895	chr2:99234026-99234027	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548948969	chr2:99234030-99234031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182268984	chr2:99234094-99234095	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369556223	chr2:99234100-99234101	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577738556	chr2:99234118-99234119	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535299320	chr2:99234129-99234130	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550546489	chr2:99234135-99234136	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558398848	chr2:99234160-99234161	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544274584	chr2:99234217-99234218	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs570493999	chr2:99234262-99234263	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs144283291	chr2:99234283-99234284	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs564415087	chr2:99234372-99234373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537543875	chr2:99234511-99234512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557534877	chr2:99234522-99234523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373029717	chr2:99234540-99234541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546503574	chr2:99234578-99234579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35335182	chr2:99234581-99234582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566349570	chr2:99234586-99234587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374175134	chr2:99234587-99234588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201608454	chr2:99234588-99234589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377242331	chr2:99234589-99234590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377744850	chr2:99234590-99234591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542687605	chr2:99234600-99234601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113829787	chr2:99234601-99234602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369816070	chr2:99234610-99234611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372482454	chr2:99234626-99234627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572268935	chr2:99234627-99234628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545898735	chr2:99234657-99234658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139454862	chr2:99234683-99234684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541281496	chr2:99234707-99234708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563944652	chr2:99234709-99234710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543413754	chr2:99234736-99234737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368384475	chr2:99234755-99234756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372622207	chr2:99234780-99234781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374579886	chr2:99234786-99234787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99225800-99235000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:99226600-99234400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:99226600-99234600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:99226600-99235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:99226600-99235800	Strong transcription	HSMM	muscle
6	chr2:99226800-99234400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:99226800-99235200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:99226800-99235400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:99226800-99235600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:99226800-99238600	Strong transcription	Primary B cells from cord blood	blood
11	chr2:99227000-99239000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:99227200-99234800	Strong transcription	Fetal Muscle Leg	muscle
13	chr2:99227200-99234800	Strong transcription	Ovary	ovary
14	chr2:99227200-99235400	Strong transcription	NH-A	brain
15	chr2:99227200-99236000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:99227200-99236000	Strong transcription	Placenta	Placenta
17	chr2:99227200-99257400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:99227400-99234400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:99227400-99234600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:99227400-99234800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:99227400-99234800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:99227400-99234800	Strong transcription	Thymus	Thymus
23	chr2:99227400-99234800	Strong transcription	A549	lung
24	chr2:99227400-99234800	Strong transcription	HSMMtube	muscle
25	chr2:99227400-99235000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:99227400-99235200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:99227400-99235400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:99227400-99235400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:99227400-99235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:99227400-99235600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:99227400-99235800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:99227600-99234000	Strong transcription	HMEC	breast
33	chr2:99227600-99234200	Strong transcription	Fetal Stomach	stomach
34	chr2:99227600-99235000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:99227600-99235200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr2:99227600-99235200	Strong transcription	Osteobl	bone
37	chr2:99227600-99243200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:99227800-99234600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:99227800-99234600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:99227800-99234800	Strong transcription	GM12878-XiMat	blood
41	chr2:99227800-99239400	Strong transcription	HUVEC	blood vessel
42	chr2:99227800-99240200	Strong transcription	Fetal Thymus	thymus
43	chr2:99228000-99233800	Strong transcription	Fetal Intestine Small	intestine
44	chr2:99228000-99234200	Strong transcription	Brain Anterior Caudate	brain
45	chr2:99228000-99234800	Strong transcription	K562	blood
46	chr2:99228000-99235400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:99228000-99235600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:99228000-99236000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:99228000-99236000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:99228000-99236000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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