Variant report

Variant	nsv962124
Chromosome Location	chr2:187409210-187423691
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187349398..187350973-chr2:187420308..187421923,2	K562	blood:
2	chr2:187419131..187421753-chr2:187453589..187456403,3	MCF-7	breast:
3	chr2:187411036..187412543-chr2:187454382..187455902,2	MCF-7	breast:
4	chr2:187408437..187410562-chr2:187417781..187420649,2	K562	blood:
5	chr2:187392275..187395253-chr2:187409654..187411697,2	MCF-7	breast:
6	chr2:187414472..187416121-chr2:187454340..187456107,2	MCF-7	breast:
7	chr2:187412931..187415408-chr2:187415614..187417884,2	K562	blood:
8	chr2:187406917..187410917-chr2:187453199..187456715,8	MCF-7	breast:
9	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:
10	chr2:187408692..187413087-chr2:187413826..187419706,7	MCF-7	breast:
11	chr2:187408437..187410562-chr2:187417781..187420649,2	K562	blood:
12	chr2:187407559..187410721-chr2:187423895..187426771,4	MCF-7	breast:
13	chr2:187414378..187416859-chr2:187424448..187427803,3	K562	blood:
14	chr2:187408487..187411855-chr2:187414594..187417273,4	K562	blood:
15	chr2:187397253..187399860-chr2:187417880..187419525,2	MCF-7	breast:
16	chr2:187411689..187413817-chr2:187434858..187437606,2	MCF-7	breast:
17	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
18	chr2:187408487..187411855-chr2:187414594..187417273,4	K562	blood:
19	chr2:187390194..187392854-chr2:187410483..187412106,2	K562	blood:
20	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
21	chr2:187406244..187408980-chr2:187422400..187424184,2	MCF-7	breast:
22	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
23	chr2:187416465..187418037-chr2:187440678..187443102,2	MCF-7	breast:
24	chr2:187420574..187422329-chr2:187424400..187426246,2	K562	blood:
25	chr2:187410468..187412799-chr2:187439579..187442121,2	MCF-7	breast:
26	chr2:187409753..187412549-chr2:187463065..187465596,2	MCF-7	breast:
27	chr2:187412931..187415408-chr2:187415614..187417884,2	K562	blood:
28	chr2:187412946..187417035-chr2:187453622..187456860,4	MCF-7	breast:
29	chr2:187418262..187420744-chr2:187454965..187457537,2	MCF-7	breast:
30	chr2:187408692..187413087-chr2:187413826..187419706,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138448	chromatin interactions
ENSG00000065548	chromatin interactions

Extended variants
information (count: 454 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116335643	chr2:187409293-187409294	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs13407066	chr2:187409354-187409355	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs59532865	chr2:187409453-187409454	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565775989	chr2:187409460-187409461	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572361025	chr2:187409471-187409472	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535897169	chr2:187409505-187409506	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115552504	chr2:187409555-187409556	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs16828026	chr2:187409557-187409558	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192540486	chr2:187409611-187409612	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1376780	chr2:187409620-187409621	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577463300	chr2:187409651-187409652	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370824379	chr2:187409669-187409670	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541454145	chr2:187409688-187409689	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184849151	chr2:187409702-187409703	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78615690	chr2:187409712-187409713	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112717857	chr2:187409740-187409741	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192216388	chr2:187409804-187409805	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56831388	chr2:187409856-187409857	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184823552	chr2:187409887-187409888	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559682660	chr2:187409906-187409907	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531592546	chr2:187409921-187409922	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs578072492	chr2:187409943-187409944	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138125306	chr2:187410006-187410007	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189641404	chr2:187410050-187410051	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547371191	chr2:187410066-187410067	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545344909	chr2:187410128-187410129	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192611034	chr2:187410139-187410140	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371845890	chr2:187410144-187410145	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563646657	chr2:187410170-187410171	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529751837	chr2:187410176-187410177	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547916087	chr2:187410265-187410266	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569389056	chr2:187410274-187410275	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs13385496	chr2:187410299-187410300	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142703596	chr2:187410356-187410357	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571135314	chr2:187410389-187410390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184358003	chr2:187410405-187410406	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553355489	chr2:187410479-187410480	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545318426	chr2:187410482-187410483	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77131492	chr2:187410496-187410497	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557520460	chr2:187410498-187410499	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145994645	chr2:187410519-187410520	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543684467	chr2:187410523-187410524	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115306363	chr2:187410548-187410549	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532456322	chr2:187410560-187410561	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571389105	chr2:187410618-187410619	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138699050	chr2:187410626-187410627	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549185873	chr2:187410631-187410632	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181891900	chr2:187410662-187410663	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75148793	chr2:187410667-187410668	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547778385	chr2:187410704-187410705	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187405200-187411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:187406000-187410000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:187406600-187412000	Enhancers	HMEC	breast
4	chr2:187407000-187410000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:187407800-187410800	Enhancers	Stomach Mucosa	stomach
6	chr2:187407800-187411000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:187408200-187409400	Enhancers	NHLF	lung
8	chr2:187408200-187409600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:187408200-187409600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:187408200-187409600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:187408200-187409600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:187408200-187409600	Enhancers	Colon Smooth Muscle	Colon
13	chr2:187408200-187409800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:187408200-187412000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:187408200-187412200	Enhancers	Hela-S3	cervix
16	chr2:187408400-187409600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:187408400-187410600	Weak transcription	Placenta	Placenta
18	chr2:187408400-187411400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:187408400-187411400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:187408400-187411600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:187408400-187412000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:187408600-187409400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:187408600-187409400	Enhancers	Fetal Stomach	stomach
24	chr2:187408600-187409400	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:187408600-187409400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr2:187408600-187409600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:187408600-187409600	Enhancers	Fetal Heart	heart
28	chr2:187408600-187409600	Flanking Active TSS	NHEK	skin
29	chr2:187408600-187409800	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:187408600-187411000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:187408600-187411400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:187408800-187409400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:187408800-187409400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:187408800-187409400	Enhancers	Fetal Lung	lung
35	chr2:187408800-187409600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:187408800-187409600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:187408800-187409600	Enhancers	Fetal Kidney	kidney
38	chr2:187408800-187409600	Flanking Active TSS	Osteobl	bone
39	chr2:187408800-187410400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:187408800-187410600	Weak transcription	Psoas Muscle	Psoas
41	chr2:187408800-187410800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:187408800-187412200	Enhancers	HSMM	muscle
43	chr2:187409000-187409400	Active TSS	A549	lung
44	chr2:187409000-187409400	Enhancers	HUVEC	blood vessel
45	chr2:187409000-187409800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:187409000-187410000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:187409000-187410000	Weak transcription	Adipose Nuclei	Adipose
48	chr2:187409000-187410400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:187409000-187410800	Enhancers	HepG2	liver
50	chr2:187409200-187409400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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