Variant report

Variant	nsv583690
Chromosome Location	chr2:178638381-178712283
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178627223..178631430-chr2:178636962..178640011,3	K562	blood:
2	chr2:178671351..178673537-chr2:178674618..178676615,2	K562	blood:
3	chr2:178702819..178704367-chr2:178705919..178708336,2	K562	blood:
4	chr2:178663529..178665445-chr2:178667339..178669141,2	K562	blood:
5	chr2:178702452..178704995-chr2:178705681..178708457,3	MCF-7	breast:
6	chr2:178677924..178679761-chr2:178681434..178684023,2	K562	blood:
7	chr2:178628572..178630202-chr2:178634599..178638462,3	K562	blood:
8	chr2:178702819..178704367-chr2:178705919..178708336,2	K562	blood:
9	chr2:178658083..178660971-chr2:178664386..178667006,2	MCF-7	breast:
10	chr2:178658083..178660971-chr2:178664386..178667006,2	MCF-7	breast:
11	chr2:178692507..178694140-chr2:178718717..178720458,2	K562	blood:
12	chr2:178702452..178704995-chr2:178705681..178708457,3	MCF-7	breast:
13	chr2:178687471..178690389-chr2:178693544..178695054,2	K562	blood:
14	chr2:178687471..178690389-chr2:178693544..178695054,2	K562	blood:
15	chr2:178481945..178484091-chr2:178661247..178662901,2	K562	blood:
16	chr2:178681561..178684546-chr2:178836153..178838637,2	K562	blood:
17	chr2:178671351..178673537-chr2:178674618..178676615,2	K562	blood:
18	chr2:178663529..178665445-chr2:178667339..178669141,2	K562	blood:
19	chr2:178677924..178679761-chr2:178681434..178684023,2	K562	blood:
20	chr2:178685875..178688046-chr2:178738979..178741149,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197557	chromatin interactions

Extended variants
information (count: 2564 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2564 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7563242	chr2:178638381-178638382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568913070	chr2:178638394-178638395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537905767	chr2:178638408-178638409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190317823	chr2:178638433-178638434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180703213	chr2:178638434-178638435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534160350	chr2:178638438-178638439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74572895	chr2:178638475-178638476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73032034	chr2:178638477-178638478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369037789	chr2:178638514-178638515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547563096	chr2:178638518-178638519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377387688	chr2:178638558-178638559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185325357	chr2:178638560-178638561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575321662	chr2:178638592-178638593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544294810	chr2:178638633-178638634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78109180	chr2:178638700-178638701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191028750	chr2:178638725-178638726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377465002	chr2:178638742-178638743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62183042	chr2:178638776-178638777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571478981	chr2:178638782-178638783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556771195	chr2:178638787-178638788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532224775	chr2:178638806-178638807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552061633	chr2:178638807-178638808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149721241	chr2:178638863-178638864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145539207	chr2:178638864-178638865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148862102	chr2:178638901-178638902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200839401	chr2:178638962-178638963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568497915	chr2:178638984-178638985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184212645	chr2:178638994-178638995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570026692	chr2:178638996-178638997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554118109	chr2:178639056-178639057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538916811	chr2:178639090-178639091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558752396	chr2:178639099-178639100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572534173	chr2:178639136-178639137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1438043	chr2:178639145-178639146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146434000	chr2:178639148-178639149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34215270	chr2:178639184-178639185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532458568	chr2:178639204-178639205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544259761	chr2:178639233-178639234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554640141	chr2:178639273-178639274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574492266	chr2:178639363-178639364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186653282	chr2:178639381-178639382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560047300	chr2:178639382-178639383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191716167	chr2:178639436-178639437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532189025	chr2:178639452-178639453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114652872	chr2:178639455-178639456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74583568	chr2:178639489-178639490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531584267	chr2:178639503-178639504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6731237	chr2:178639517-178639518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76916864	chr2:178639524-178639525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547312186	chr2:178639528-178639529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178638000-178647600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:178640000-178640600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:178642800-178643200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:178642800-178643400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:178642800-178643400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:178643000-178643600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:178643400-178648400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:178645000-178645400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:178645200-178645600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:178645200-178645800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:178645200-178646000	Enhancers	Primary T cells from cord blood	blood
12	chr2:178645200-178646000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:178645400-178647800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:178645600-178645800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:178645600-178645800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:178645600-178646000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:178645600-178648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:178645800-178647200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:178645800-178647600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:178646000-178647600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:178646000-178647800	Weak transcription	Primary T cells from cord blood	blood
22	chr2:178646000-178648200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:178646200-178648000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:178647000-178649200	Enhancers	HMEC	breast
25	chr2:178647200-178650000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:178647400-178648600	Enhancers	Dnd41	blood
27	chr2:178647400-178649000	Enhancers	NHEK	skin
28	chr2:178647400-178650200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:178647600-178648600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:178647600-178648800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:178647600-178649000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:178647600-178649800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:178647600-178650000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:178647600-178650000	Enhancers	HSMM	muscle
35	chr2:178647800-178648000	Enhancers	Primary T cells from cord blood	blood
36	chr2:178647800-178648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:178647800-178649000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:178647800-178649800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:178647800-178650200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:178648000-178648400	Weak transcription	Primary T cells from cord blood	blood
41	chr2:178648000-178648600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:178648000-178648800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:178648000-178649000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:178648000-178650200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr2:178648200-178648800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:178648200-178649000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr2:178648200-178650000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:178648200-178650000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr2:178648400-178648600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:178648400-178649000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links