Variant report

Variant	esv997290
Chromosome Location	chr3:119127141-119135667
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:119133389..119135165-chr3:119214613..119217502,2	K562	blood:
2	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:
3	chr3:119126605..119128685-chr3:119132241..119134737,2	K562	blood:
4	chr3:119135475..119137117-chr3:119394789..119396381,2	K562	blood:
5	chr3:119119325..119121330-chr3:119125075..119127881,2	K562	blood:
6	chr3:119126605..119128685-chr3:119132241..119134737,2	K562	blood:
7	chr3:119132282..119134747-chr3:119135512..119137174,2	MCF-7	breast:
8	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:
9	chr3:119134373..119135878-chr3:119140849..119143747,2	K562	blood:
10	chr3:119132282..119134747-chr3:119135512..119137174,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272662	chromatin interactions
ENSG00000113845	chromatin interactions
ENSG00000138495	chromatin interactions

Extended variants
information (count: 350 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117625341	chr3:119127208-119127209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542028042	chr3:119127228-119127229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554036350	chr3:119127254-119127255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572042493	chr3:119127262-119127263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545924542	chr3:119127266-119127267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564036075	chr3:119127286-119127287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547181994	chr3:119127305-119127306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531290702	chr3:119127312-119127313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115499722	chr3:119127334-119127335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59551807	chr3:119127415-119127416	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530361389	chr3:119127503-119127504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374838044	chr3:119127558-119127559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115698847	chr3:119127642-119127643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149290406	chr3:119127677-119127678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12490630	chr3:119127678-119127679	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34855896	chr3:119127681-119127682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58936172	chr3:119127883-119127884	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373465558	chr3:119127934-119127935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570876180	chr3:119127960-119127961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144497573	chr3:119127987-119127988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59346852	chr3:119127993-119127994	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377043494	chr3:119127995-119127996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188717874	chr3:119128008-119128009	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58968288	chr3:119128015-119128016	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577816306	chr3:119128081-119128082	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553999481	chr3:119128094-119128095	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139519280	chr3:119128117-119128118	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145121382	chr3:119128171-119128172	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147574396	chr3:119128217-119128218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192774495	chr3:119128258-119128259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556556903	chr3:119128279-119128280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377092440	chr3:119128294-119128295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561375887	chr3:119128304-119128305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370183659	chr3:119128351-119128352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374928307	chr3:119128352-119128353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183770177	chr3:119128393-119128394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61744178	chr3:119128397-119128398	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2305249	chr3:119128398-119128399	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527842114	chr3:119128401-119128402	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375507355	chr3:119128421-119128422	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552509149	chr3:119128443-119128444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188838755	chr3:119128469-119128470	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531868347	chr3:119128608-119128609	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1463139	chr3:119128628-119128629	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568507209	chr3:119128631-119128632	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1463138	chr3:119128634-119128635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140274779	chr3:119128636-119128637	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112099239	chr3:119128663-119128664	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202051371	chr3:119128703-119128704	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74369586	chr3:119128710-119128711	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
3	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
5	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
7	chr3:119097000-119132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
10	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:119100000-119132600	Weak transcription	Primary B cells from cord blood	blood
12	chr3:119102600-119133200	Weak transcription	NHLF	lung
13	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:119105400-119130000	Weak transcription	Fetal Brain Male	brain
15	chr3:119106400-119131200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:119109400-119130800	Strong transcription	Osteobl	bone
19	chr3:119110200-119128800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr3:119110400-119132200	Weak transcription	Brain Substantia Nigra	brain
22	chr3:119111800-119128000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:119111800-119128800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:119111800-119128800	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:119111800-119129200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:119111800-119132600	Weak transcription	Thymus	Thymus
27	chr3:119112000-119132600	Weak transcription	Fetal Intestine Small	intestine
28	chr3:119112000-119132600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:119112200-119128200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:119112200-119128400	Weak transcription	Liver	Liver
32	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
33	chr3:119112400-119132800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:119113400-119138000	Strong transcription	Fetal Stomach	stomach
36	chr3:119114600-119132200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:119116400-119132400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:119116600-119133400	Strong transcription	Left Ventricle	heart
39	chr3:119118600-119133200	Weak transcription	Fetal Intestine Large	intestine
40	chr3:119118800-119129400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:119121200-119128800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:119121200-119129200	Weak transcription	Brain Anterior Caudate	brain
44	chr3:119121200-119132800	Weak transcription	Pancreas	Pancrea
45	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:119121400-119128000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:119121400-119128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:119121400-119132400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:119121400-119132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:119121400-119135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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