Variant report

Variant	esv3357655
Chromosome Location	chr2:128373060-128376067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:128373220-128373370	AG10803	skin:	n/a	n/a
2	CTCF	chr2:128373300-128373450	BJ	skin:	n/a	n/a
3	CTCF	chr2:128373500-128373650	AG10803	skin:	n/a	n/a
4	EBF1	chr2:128376029-128376187	GM12878	blood:	n/a	n/a
5	FOXA1	chr2:128373131-128373353	T-47D	breast:	n/a	n/a
6	FOXA2	chr2:128375997-128376345	A549	lung:	n/a	n/a
7	FOXP2	chr2:128373324-128373670	SK-N-MC	brain:	n/a	n/a
8	MYC	chr2:128373325-128373359	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:128373036-128373911	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr2:128376000-128376161	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128371727..128374321-chr2:128457294..128459838,2	K562	blood:
2	chr2:128372780..128375078-chr2:128457805..128460523,2	MCF-7	breast:
3	chr2:128366434..128369235-chr2:128371217..128373511,2	MCF-7	breast:
4	chr2:128370249..128372116-chr2:128372361..128374948,2	MCF-7	breast:
5	chr2:128372104..128373861-chr2:128379908..128381447,2	K562	blood:

No data

Variant related genes	Relation type
MYO7B	TF binding region
ENSG00000169994	chromatin interactions
ENSG00000173349	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs142030654	chr2:128373072-128373073	Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs540050936	chr2:128373084-128373085	Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201689182	chr2:128373101-128373102	Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535929397	chr2:128373104-128373105	Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577405699	chr2:128373137-128373138	Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs546513410	chr2:128373227-128373228	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs566062486	chr2:128373228-128373229	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs556922536	chr2:128373237-128373238	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs534970991	chr2:128373294-128373295	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs540652409	chr2:128373302-128373303	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs149342335	chr2:128373319-128373320	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs193198947	chr2:128373328-128373329	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs184652392	chr2:128373335-128373336	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs78309785	chr2:128373343-128373344	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs187288975	chr2:128373358-128373359	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs191826949	chr2:128373427-128373428	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs528096622	chr2:128373428-128373429	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs555771580	chr2:128373436-128373437	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs572348030	chr2:128373456-128373457	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs11675513	chr2:128373562-128373563	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs564859935	chr2:128373564-128373565	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183620191	chr2:128373571-128373572	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147486715	chr2:128373572-128373573	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567444737	chr2:128373580-128373581	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529415198	chr2:128373589-128373590	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549460454	chr2:128373628-128373629	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs13386395	chr2:128373700-128373701	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188333285	chr2:128373749-128373750	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200489343	chr2:128373801-128373802	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182070778	chr2:128373817-128373818	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185881972	chr2:128373836-128373837	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533219761	chr2:128373839-128373840	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557315535	chr2:128373908-128373909	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543238375	chr2:128373916-128373917	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113260148	chr2:128373934-128373935	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542812019	chr2:128373960-128373961	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563295567	chr2:128373975-128373976	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111903711	chr2:128373984-128373985	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189905420	chr2:128374002-128374003	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544635011	chr2:128374026-128374027	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143901959	chr2:128374030-128374031	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372284897	chr2:128374031-128374032	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376822977	chr2:128374041-128374042	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560079671	chr2:128374100-128374101	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13386845	chr2:128374108-128374109	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10928775	chr2:128374180-128374181	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs182122848	chr2:128374222-128374223	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34257365	chr2:128374244-128374245	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529910121	chr2:128374257-128374258	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546448514	chr2:128374298-128374299	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128334400-128376400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:128359000-128376000	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr2:128359200-128395200	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:128360000-128375000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr2:128364800-128373200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:128370400-128377000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:128371000-128391600	Strong transcription	Fetal Intestine Large	intestine
8	chr2:128371400-128373800	Enhancers	Placenta	Placenta
9	chr2:128371400-128390800	Strong transcription	Fetal Intestine Small	intestine
10	chr2:128371600-128373600	Enhancers	HSMM	muscle
11	chr2:128371600-128373600	Enhancers	HSMMtube	muscle
12	chr2:128371800-128373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:128371800-128374600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:128371800-128378400	Enhancers	Fetal Thymus	thymus
15	chr2:128372000-128373400	Enhancers	Fetal Muscle Leg	muscle
16	chr2:128372000-128373600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:128372000-128373800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:128372200-128373400	Enhancers	Thymus	Thymus
19	chr2:128372200-128373600	Enhancers	HMEC	breast
20	chr2:128372200-128373600	Enhancers	NHEK	skin
21	chr2:128372400-128373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:128372400-128373400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:128372400-128373800	Enhancers	Osteobl	bone
24	chr2:128372400-128375000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:128372600-128373200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:128372600-128373400	Enhancers	Primary T cells from cord blood	blood
27	chr2:128372600-128375800	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:128372600-128378600	Weak transcription	Colonic Mucosa	Colon
29	chr2:128372800-128374600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:128372800-128374600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:128372800-128377000	Weak transcription	Spleen	Spleen
32	chr2:128373000-128373400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:128373000-128373400	Enhancers	Dnd41	blood
34	chr2:128373000-128374400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr2:128373000-128374400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:128373000-128374600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:128373000-128375400	Enhancers	Primary B cells from cord blood	blood
38	chr2:128373000-128380800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:128373200-128373400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:128373200-128379400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:128373400-128373800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:128373400-128373800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:128373400-128373800	Flanking Active TSS	Thymus	Thymus
44	chr2:128373400-128374000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:128373400-128374000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:128373400-128374200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr2:128373400-128374400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:128373400-128374600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:128373400-128374600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:128373400-128374800	Flanking Active TSS	Dnd41	blood

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