Variant report

Variant	esv3365153
Chromosome Location	chr2:97465325-97469223
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97422827..97423487-chr2:97466437..97467063,2	MCF-7	breast:
2	chr2:97302394..97304035-chr2:97465229..97467150,2	K562	blood:
3	chr2:97460207..97462651-chr2:97465343..97467859,2	MCF-7	breast:
4	chr2:97466981..97469049-chr2:97479457..97483180,4	MCF-7	breast:
5	chr2:97269533..97270197-chr2:97466421..97467307,2	MCF-7	breast:
6	chr2:97467643..97469285-chr2:97522223..97524025,2	MCF-7	breast:
7	chr2:97301902..97304307-chr2:97465520..97468347,2	MCF-7	breast:
8	chr18:75695687..75698621-chr2:97466329..97469309,2	K562	blood:
9	chr2:97425052..97427077-chr2:97465470..97467876,3	MCF-7	breast:
10	chr2:97467639..97469941-chr2:97475793..97477509,2	MCF-7	breast:
11	chr2:97465934..97468899-chr2:97470866..97472428,2	MCF-7	breast:
12	chr2:97215474..97216519-chr2:97466472..97467331,5	MCF-7	breast:
13	chr2:97468183..97470618-chr2:97480529..97483557,3	MCF-7	breast:
14	chr2:97426069..97427138-chr2:97466396..97467262,6	MCF-7	breast:
15	chr2:97214331..97216349-chr2:97465039..97467307,2	MCF-7	breast:
16	chr18:75695687..75697316-chr2:97467809..97469327,2	K562	blood:
17	chr2:97426560..97430311-chr2:97465753..97469757,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264334	chromatin interactions
ENSG00000114982	chromatin interactions
ENSG00000168763	chromatin interactions
ENSG00000213337	chromatin interactions
ENSG00000163126	chromatin interactions
ENSG00000158158	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs200110847	chr2:97465339-97465340	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs202126569	chr2:97465340-97465341	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370487548	chr2:97465354-97465355	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373899399	chr2:97465375-97465376	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144495984	chr2:97465379-97465380	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs41286594	chr2:97465384-97465385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571435158	chr2:97465421-97465422	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537133054	chr2:97465466-97465467	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557367930	chr2:97465472-97465473	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573950374	chr2:97465473-97465474	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543314060	chr2:97465519-97465520	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374149101	chr2:97465534-97465535	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368363222	chr2:97465540-97465541	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573405911	chr2:97465610-97465611	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545646119	chr2:97465631-97465632	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565459916	chr2:97465652-97465653	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533100192	chr2:97465662-97465663	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543538589	chr2:97465691-97465692	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563296435	chr2:97465725-97465726	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs528843714	chr2:97465730-97465731	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111701360	chr2:97465790-97465791	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549276331	chr2:97465831-97465832	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559624741	chr2:97465834-97465835	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375488702	chr2:97465865-97465866	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187932403	chr2:97465936-97465937	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551199247	chr2:97465937-97465938	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs571103217	chr2:97465944-97465945	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs537196557	chr2:97465956-97465957	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557133142	chr2:97465994-97465995	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567665173	chr2:97465997-97465998	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536221514	chr2:97465999-97466000	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553306756	chr2:97466004-97466005	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370629786	chr2:97466023-97466024	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529832319	chr2:97466024-97466025	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559241272	chr2:97466026-97466027	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117370797	chr2:97466071-97466072	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543516169	chr2:97466096-97466097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563203828	chr2:97466106-97466107	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs193018127	chr2:97466139-97466140	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542286410	chr2:97466152-97466153	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150230047	chr2:97466163-97466164	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112940788	chr2:97466164-97466165	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs528412412	chr2:97466170-97466171	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138801373	chr2:97466216-97466217	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs578046024	chr2:97466218-97466219	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs35484986	chr2:97466222-97466223	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564743116	chr2:97466237-97466238	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs545114734	chr2:97466270-97466271	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs563658115	chr2:97466282-97466283	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576036070	chr2:97466290-97466291	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
2	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:97442800-97466600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:97454400-97466400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:97454600-97467000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:97454600-97481000	Weak transcription	NHEK	skin
8	chr2:97454800-97466400	Weak transcription	HSMM	muscle
9	chr2:97454800-97466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:97454800-97467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:97455000-97466600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:97455200-97477600	Weak transcription	HSMMtube	muscle
14	chr2:97455400-97466400	Weak transcription	Stomach Mucosa	stomach
15	chr2:97455400-97477200	Weak transcription	Psoas Muscle	Psoas
16	chr2:97455400-97480600	Weak transcription	Hela-S3	cervix
17	chr2:97458800-97467200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:97458800-97467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:97459000-97465600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:97459400-97466400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:97459800-97466200	Weak transcription	HepG2	liver
22	chr2:97459800-97466600	Weak transcription	Fetal Lung	lung
23	chr2:97460000-97465600	Weak transcription	Fetal Thymus	thymus
24	chr2:97460600-97471200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:97462200-97465400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:97462200-97467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:97462600-97465400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:97462600-97465800	Strong transcription	Primary T cells from cord blood	blood
30	chr2:97462600-97465800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:97462600-97465800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr2:97462600-97466000	Strong transcription	Brain Anterior Caudate	brain
33	chr2:97462600-97466200	Strong transcription	Fetal Intestine Small	intestine
34	chr2:97462600-97466200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:97462600-97466400	Strong transcription	Fetal Stomach	stomach
36	chr2:97462600-97466400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr2:97462600-97466600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:97462600-97469000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:97462800-97465400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:97462800-97465400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:97462800-97465400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:97462800-97465600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:97462800-97465600	Strong transcription	Left Ventricle	heart
44	chr2:97462800-97465600	Strong transcription	Pancreas	Pancrea
45	chr2:97462800-97465600	Strong transcription	Spleen	Spleen
46	chr2:97462800-97465800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:97462800-97465800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:97462800-97465800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:97462800-97465800	Strong transcription	Brain Hippocampus Middle	brain
50	chr2:97462800-97465800	Strong transcription	Duodenum Mucosa	Duodenum

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