Variant report

Variant	esv3387574
Chromosome Location	chr2:97466025-97469223
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	chr2:97301902..97304307-chr2:97465520..97468347,2	MCF-7	breast:
2	chr2:97468183..97470618-chr2:97480529..97483557,3	MCF-7	breast:
3	chr2:97465934..97468899-chr2:97470866..97472428,2	MCF-7	breast:
4	chr2:97426069..97427138-chr2:97466396..97467262,6	MCF-7	breast:
5	chr2:97466981..97469049-chr2:97479457..97483180,4	MCF-7	breast:
6	chr2:97467639..97469941-chr2:97475793..97477509,2	MCF-7	breast:
7	chr2:97467643..97469285-chr2:97522223..97524025,2	MCF-7	breast:
8	chr2:97302394..97304035-chr2:97465229..97467150,2	K562	blood:
9	chr2:97269533..97270197-chr2:97466421..97467307,2	MCF-7	breast:
10	chr2:97425052..97427077-chr2:97465470..97467876,3	MCF-7	breast:
11	chr2:97460207..97462651-chr2:97465343..97467859,2	MCF-7	breast:
12	chr18:75695687..75698621-chr2:97466329..97469309,2	K562	blood:
13	chr18:75695687..75697316-chr2:97467809..97469327,2	K562	blood:
14	chr2:97214331..97216349-chr2:97465039..97467307,2	MCF-7	breast:
15	chr2:97215474..97216519-chr2:97466472..97467331,5	MCF-7	breast:
16	chr2:97422827..97423487-chr2:97466437..97467063,2	MCF-7	breast:
17	chr2:97426560..97430311-chr2:97465753..97469757,6	MCF-7	breast:

No data

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

Extended variants
information (count: 131 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559241272	chr2:97466026-97466027	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs117370797	chr2:97466071-97466072	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543516169	chr2:97466096-97466097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563203828	chr2:97466106-97466107	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs193018127	chr2:97466139-97466140	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542286410	chr2:97466152-97466153	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150230047	chr2:97466163-97466164	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112940788	chr2:97466164-97466165	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528412412	chr2:97466170-97466171	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138801373	chr2:97466216-97466217	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs578046024	chr2:97466218-97466219	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35484986	chr2:97466222-97466223	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564743116	chr2:97466237-97466238	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545114734	chr2:97466270-97466271	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563658115	chr2:97466282-97466283	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs576036070	chr2:97466290-97466291	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs143061035	chr2:97466329-97466330	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs551073208	chr2:97466344-97466345	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs567679278	chr2:97466348-97466349	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs536731467	chr2:97466390-97466391	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs183632544	chr2:97466461-97466462	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs543314776	chr2:97466470-97466471	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566868891	chr2:97466499-97466500	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs539342579	chr2:97466519-97466520	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559251881	chr2:97466541-97466542	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs575926706	chr2:97466551-97466552	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs574457116	chr2:97466611-97466612	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs145422651	chr2:97466612-97466613	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538028190	chr2:97466629-97466630	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs555123649	chr2:97466630-97466631	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs573691612	chr2:97466636-97466637	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs563194271	chr2:97466669-97466670	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs542701163	chr2:97466674-97466675	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs558972965	chr2:97466738-97466739	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs147512388	chr2:97466781-97466782	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs138447961	chr2:97466845-97466846	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs564806942	chr2:97466918-97466919	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530692191	chr2:97466957-97466958	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs528639228	chr2:97466965-97466966	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs188229173	chr2:97466982-97466983	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs561127495	chr2:97466983-97466984	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs148852583	chr2:97467041-97467042	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs530180520	chr2:97467092-97467093	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs369524711	chr2:97467130-97467131	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs547023956	chr2:97467141-97467142	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs546680022	chr2:97467149-97467150	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs566879475	chr2:97467156-97467157	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs539000912	chr2:97467198-97467199	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs552926191	chr2:97467204-97467205	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs569599886	chr2:97467227-97467228	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 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:385 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr2:97459400-97466400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:97459800-97466200	Weak transcription	HepG2	liver
21	chr2:97459800-97466600	Weak transcription	Fetal Lung	lung
22	chr2:97460600-97471200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:97462200-97467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:97462600-97466200	Strong transcription	Fetal Intestine Small	intestine
26	chr2:97462600-97466200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:97462600-97466400	Strong transcription	Fetal Stomach	stomach
28	chr2:97462600-97466400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:97462600-97466600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:97462600-97469000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:97462800-97466200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:97462800-97466200	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:97462800-97466200	Strong transcription	Thymus	Thymus
34	chr2:97462800-97466400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:97462800-97466400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:97462800-97466400	Strong transcription	Colonic Mucosa	Colon
37	chr2:97462800-97466400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:97462800-97466400	Strong transcription	Fetal Intestine Large	intestine
39	chr2:97462800-97466400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:97462800-97466600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:97462800-97466600	Strong transcription	Lung	lung
42	chr2:97462800-97466600	Strong transcription	Right Ventricle	heart
43	chr2:97462800-97466600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:97462800-97466800	Strong transcription	Ovary	ovary
45	chr2:97462800-97468800	Strong transcription	Esophagus	oesophagus
46	chr2:97462800-97468800	Strong transcription	Fetal Brain Female	brain
47	chr2:97463000-97468200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr2:97463000-97476200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:97463200-97466600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:97463200-97468800	Strong transcription	Brain Germinal Matrix	brain

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