Variant report

Variant	esv3446555
Chromosome Location	chr1:228529429-228534227
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228527379..228529811-chr1:228531746..228535149,3	K562	blood:
2	chr1:228527379..228529811-chr1:228531746..228535149,3	K562	blood:
3	chr1:228532419..228534694-chr1:228551752..228553714,2	K562	blood:
4	chr1:228525657..228530496-chr1:228643263..228648636,7	MCF-7	breast:
5	chr1:228526564..228529508-chr1:228637709..228639977,2	K562	blood:
6	chr1:228533014..228535491-chr1:228584154..228588880,4	K562	blood:
7	chr1:228532419..228535925-chr1:228550731..228553714,3	K562	blood:
8	chr1:228530911..228533359-chr1:228535027..228537755,2	MCF-7	breast:
9	chr1:228529554..228531796-chr1:228643689..228645625,3	K562	blood:
10	chr1:228523292..228526039-chr1:228527019..228529476,2	MCF-7	breast:
11	chr1:228531987..228534463-chr1:228535409..228536944,2	K562	blood:
12	chr1:228530715..228532742-chr1:228571055..228573808,2	K562	blood:
13	chr1:228531850..228533459-chr1:228596981..228599691,2	K562	blood:
14	chr1:228527674..228533298-chr1:228643388..228648856,7	K562	blood:
15	chr1:228532391..228534564-chr1:228534815..228539130,4	K562	blood:
16	chr1:228532186..228534181-chr1:228558824..228561371,2	K562	blood:
17	chr1:228531547..228534494-chr1:228539074..228540724,2	MCF-7	breast:
18	chr1:228527562..228531563-chr1:228538039..228541422,5	K562	blood:
19	chr1:228532391..228535363-chr1:228537401..228539130,2	K562	blood:
20	chr1:228527728..228529697-chr1:228564611..228569014,3	MCF-7	breast:
21	chr1:228527085..228530281-chr1:228640175..228642076,3	K562	blood:
22	chr1:228533976..228536811-chr1:228643689..228645761,3	K562	blood:
23	chr1:228528354..228531770-chr1:228642753..228646292,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154370	chromatin interactions
ENSG00000270104	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000154358	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141828109	chr1:228529429-228529430	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs143432076	chr1:228529430-228529431	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs71180792	chr1:228529436-228529437	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370813923	chr1:228529437-228529438	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs181917833	chr1:228529447-228529448	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs77604318	chr1:228529472-228529473	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs538616788	chr1:228529483-228529484	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs558630218	chr1:228529491-228529492	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145943545	chr1:228529506-228529507	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs200040476	chr1:228529541-228529542	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs541159779	chr1:228529567-228529568	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs563280899	chr1:228529582-228529583	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs77786830	chr1:228529603-228529604	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs4653549	chr1:228529606-228529607	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186943874	chr1:228529662-228529663	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs563592303	chr1:228529713-228529714	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs578210763	chr1:228529761-228529762	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs532350072	chr1:228529769-228529770	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs545770637	chr1:228529798-228529799	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374961155	chr1:228529802-228529803	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs368437769	chr1:228529809-228529810	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372815698	chr1:228529812-228529813	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs559356096	chr1:228529824-228529825	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs377026703	chr1:228529827-228529828	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs1188715	chr1:228529848-228529849	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372847448	chr1:228529860-228529861	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs34861702	chr1:228529863-228529864	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs548247319	chr1:228529878-228529879	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs191670476	chr1:228529892-228529893	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs531092933	chr1:228529898-228529899	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs376296658	chr1:228529912-228529913	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs550934441	chr1:228529913-228529914	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs369310498	chr1:228529942-228529943	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs36025964	chr1:228529950-228529951	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs183014488	chr1:228530004-228530005	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs114936771	chr1:228530025-228530026	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs558569912	chr1:228530069-228530070	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs565644528	chr1:228530070-228530071	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs367870028	chr1:228530072-228530073	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs534606511	chr1:228530096-228530097	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs566905423	chr1:228530097-228530098	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs544633586	chr1:228530139-228530140	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs371716905	chr1:228530141-228530142	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs574488338	chr1:228530172-228530173	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs75169648	chr1:228530185-228530186	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs188163636	chr1:228530214-228530215	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs556908495	chr1:228530227-228530228	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs577053524	chr1:228530247-228530248	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs189783993	chr1:228530307-228530308	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs559242930	chr1:228530311-228530312	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228504400-228529600	Weak transcription	Colonic Mucosa	Colon
2	chr1:228508800-228530200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:228510000-228531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:228510000-228554600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:228510200-228531200	Weak transcription	Hela-S3	cervix
6	chr1:228511200-228530000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:228511400-228552400	Weak transcription	Psoas Muscle	Psoas
8	chr1:228512400-228532200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:228512800-228531400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:228512800-228532600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:228513400-228531400	Weak transcription	Fetal Kidney	kidney
12	chr1:228518800-228534200	Weak transcription	Right Atrium	heart
13	chr1:228519200-228531400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:228520000-228538000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:228520200-228531800	Strong transcription	Thymus	Thymus
16	chr1:228520200-228532000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:228520200-228532000	Strong transcription	Left Ventricle	heart
18	chr1:228520200-228538200	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:228520400-228529600	Strong transcription	Fetal Intestine Small	intestine
20	chr1:228520400-228531400	Strong transcription	Right Ventricle	heart
21	chr1:228520400-228531600	Strong transcription	Fetal Stomach	stomach
22	chr1:228520400-228532400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:228520400-228535000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:228520400-228535200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:228520600-228532000	Strong transcription	Fetal Brain Female	brain
26	chr1:228522000-228541200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:228524400-228530000	Strong transcription	Pancreas	Pancrea
28	chr1:228524600-228530000	Strong transcription	Dnd41	blood
29	chr1:228524800-228531600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:228525000-228530000	Strong transcription	Fetal Intestine Large	intestine
31	chr1:228525600-228529800	Strong transcription	Spleen	Spleen
32	chr1:228525800-228531200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:228525800-228531400	Weak transcription	A549	lung
34	chr1:228526600-228529600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:228527400-228531200	Strong transcription	Lung	lung
36	chr1:228527400-228531400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:228527400-228531800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:228527400-228532400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:228527400-228532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:228527400-228545800	Weak transcription	Fetal Brain Male	brain
41	chr1:228527600-228531400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:228527600-228531400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:228527600-228531400	Weak transcription	Fetal Heart	heart
44	chr1:228527600-228538600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:228527600-228546600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:228527600-228562400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:228527800-228529800	Weak transcription	Brain Germinal Matrix	brain
48	chr1:228527800-228530800	Weak transcription	Esophagus	oesophagus
49	chr1:228527800-228532200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:228527800-228532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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