Variant report

Variant	esv3379179
Chromosome Location	chr4:104014003-104015951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104015551..104018185-chr4:104019350..104021747,2	K562	blood:
2	chr4:103935447..103937592-chr4:104011447..104014383,2	K562	blood:
3	chr4:104012846..104015540-chr4:104018852..104022856,5	K562	blood:
4	chr4:103994623..103998824-chr4:104011686..104015177,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164039	chromatin interactions
ENSG00000164038	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532136664	chr4:104014003-104014004	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs199697811	chr4:104014037-104014038	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552998395	chr4:104014054-104014055	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542510381	chr4:104014079-104014080	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7690059	chr4:104014114-104014115	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs142493109	chr4:104014124-104014125	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549674663	chr4:104014129-104014130	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146556601	chr4:104014142-104014143	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35244956	chr4:104014186-104014187	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370699688	chr4:104014258-104014259	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564759019	chr4:104014274-104014275	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs139137660	chr4:104014294-104014295	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs17033423	chr4:104014400-104014401	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575614955	chr4:104014434-104014435	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560892309	chr4:104014445-104014446	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs193263682	chr4:104014463-104014464	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557114717	chr4:104014480-104014481	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184990028	chr4:104014489-104014490	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368055269	chr4:104014621-104014622	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372122749	chr4:104014648-104014649	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190423109	chr4:104014662-104014663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554410992	chr4:104014772-104014773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572725592	chr4:104014773-104014774	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201964002	chr4:104014866-104014867	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs35122290	chr4:104014876-104014877	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539994692	chr4:104014881-104014882	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11734318	chr4:104014915-104014916	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs181166712	chr4:104014921-104014922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35810481	chr4:104014924-104014925	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576906206	chr4:104015048-104015049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185617100	chr4:104015079-104015080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562371238	chr4:104015097-104015098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529675948	chr4:104015139-104015140	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs77507736	chr4:104015159-104015160	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs143043706	chr4:104015161-104015162	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs116982302	chr4:104015175-104015176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs547173032	chr4:104015196-104015197	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562325500	chr4:104015214-104015215	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571801178	chr4:104015221-104015222	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538801079	chr4:104015244-104015245	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551040296	chr4:104015311-104015312	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11726284	chr4:104015314-104015315	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs536220814	chr4:104015396-104015397	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111502946	chr4:104015406-104015407	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562620864	chr4:104015418-104015419	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572761006	chr4:104015459-104015460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533826960	chr4:104015484-104015485	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558379634	chr4:104015552-104015553	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372647640	chr4:104015603-104015604	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576947815	chr4:104015663-104015664	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103998200-104020400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:103998400-104018800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:103998600-104020200	Weak transcription	Fetal Brain Male	brain
4	chr4:103998800-104019600	Weak transcription	NHEK	skin
5	chr4:103999000-104020200	Weak transcription	Hela-S3	cervix
6	chr4:104000200-104016400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:104000400-104014600	Strong transcription	Fetal Intestine Large	intestine
8	chr4:104000600-104016400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:104001800-104015000	Strong transcription	Fetal Lung	lung
10	chr4:104005400-104014800	Strong transcription	Fetal Muscle Leg	muscle
11	chr4:104005400-104015600	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:104005400-104016400	Strong transcription	Fetal Thymus	thymus
13	chr4:104006400-104014400	Strong transcription	Colon Smooth Muscle	Colon
14	chr4:104006800-104014600	Strong transcription	Fetal Kidney	kidney
15	chr4:104007000-104017800	Weak transcription	Stomach Mucosa	stomach
16	chr4:104008000-104019400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:104008600-104015200	Weak transcription	Brain Angular Gyrus	brain
18	chr4:104009000-104020000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:104010200-104018000	Weak transcription	Colonic Mucosa	Colon
20	chr4:104010200-104019600	Weak transcription	Spleen	Spleen
21	chr4:104010600-104019200	Weak transcription	Esophagus	oesophagus
22	chr4:104011000-104016000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:104011200-104019800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:104011800-104018600	Weak transcription	Small Intestine	intestine
25	chr4:104012000-104018800	Weak transcription	HSMMtube	muscle
26	chr4:104012000-104019000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:104012000-104019600	Weak transcription	HMEC	breast
28	chr4:104012200-104015000	Weak transcription	HUVEC	blood vessel
29	chr4:104012200-104016200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:104012200-104018600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:104012200-104019200	Weak transcription	Placenta	Placenta
32	chr4:104012200-104019200	Weak transcription	Psoas Muscle	Psoas
33	chr4:104012200-104019400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:104012200-104019400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:104012200-104019600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:104012200-104019800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:104012200-104019800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:104012400-104015000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:104012400-104016000	Weak transcription	HepG2	liver
40	chr4:104012400-104016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:104012400-104016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:104012400-104018000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:104012400-104018400	Weak transcription	Pancreas	Pancrea
44	chr4:104012400-104018600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:104012400-104018600	Weak transcription	Gastric	stomach
46	chr4:104012400-104018600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:104012400-104018800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:104012400-104018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:104012400-104018800	Weak transcription	Right Ventricle	heart
50	chr4:104012400-104018800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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