Variant report

Variant	esv3321277
Chromosome Location	chr1:226612603-226612970
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	chr1:226612138..226612852-chr1:226796151..226796974,3	MCF-7	breast:
2	chr1:226598048..226600669-chr1:226610856..226612637,2	K562	blood:
3	chr1:226612095..226612846-chr1:226821698..226822342,3	MCF-7	breast:
4	chr1:226611970..226613533-chr1:226620881..226623391,2	K562	blood:
5	chr1:226612018..226612921-chr1:226737871..226738803,5	MCF-7	breast:
6	chr1:226612226..226612932-chr1:226755914..226756415,2	MCF-7	breast:
7	chr1:226612258..226612876-chr1:226796174..226796960,2	K562	blood:
8	chr1:226612137..226612857-chr1:226813505..226814375,2	K562	blood:
9	chr1:226595744..226596324-chr1:226612113..226613097,2	K562	blood:
10	chr1:226607208..226609606-chr1:226610785..226615218,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143799	chromatin interactions
ENSG00000270287	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573855119	chr1:226612611-226612612	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555127246	chr1:226612624-226612625	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573682172	chr1:226612682-226612683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543946357	chr1:226612710-226612711	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563529484	chr1:226612718-226612719	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575470275	chr1:226612720-226612721	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542815392	chr1:226612744-226612745	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546069815	chr1:226612781-226612782	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs60015076	chr1:226612784-226612785	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376530306	chr1:226612789-226612790	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115813748	chr1:226612790-226612791	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568038861	chr1:226612793-226612794	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201450253	chr1:226612795-226612796	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs202152422	chr1:226612796-226612797	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529386574	chr1:226612803-226612804	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373157146	chr1:226612818-226612819	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148803902	chr1:226612825-226612826	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs907188	chr1:226612826-226612827	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145053845	chr1:226612881-226612882	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533183548	chr1:226612907-226612908	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551666644	chr1:226612908-226612909	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566765963	chr1:226612909-226612910	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531822009	chr1:226612910-226612911	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551615380	chr1:226612918-226612919	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550902219	chr1:226612935-226612936	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189104472	chr1:226612938-226612939	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs907186	chr1:226612949-226612950	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs555336324	chr1:226612970-226612971	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Acute lymphoblastic leukemia	21098271	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226596200-226622600	Weak transcription	Right Atrium	heart
2	chr1:226602800-226616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226606000-226616200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:226606200-226616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226607400-226614200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:226608400-226616200	Weak transcription	Fetal Brain Female	brain
7	chr1:226608800-226613200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:226611800-226612800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:226612000-226612800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:226612000-226612800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:226612000-226612800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:226612000-226612800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:226612000-226612800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:226612000-226612800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:226612000-226612800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:226612000-226612800	Enhancers	Fetal Brain Male	brain
17	chr1:226612000-226612800	Enhancers	Fetal Lung	lung
18	chr1:226612000-226613000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:226612000-226613000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr1:226612000-226613200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:226612000-226616000	Enhancers	Dnd41	blood
22	chr1:226612200-226612800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:226612200-226612800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:226612200-226612800	Enhancers	Fetal Heart	heart
25	chr1:226612200-226612800	Active TSS	Fetal Kidney	kidney
26	chr1:226612200-226612800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr1:226612200-226612800	Enhancers	GM12878-XiMat	blood
28	chr1:226612200-226613000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:226612200-226613200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:226612200-226613200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:226612400-226612800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:226612400-226612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:226612400-226612800	Enhancers	Brain Angular Gyrus	brain
34	chr1:226612400-226612800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:226612400-226612800	Enhancers	Ovary	ovary
36	chr1:226612400-226612800	Enhancers	Spleen	Spleen
37	chr1:226612400-226613000	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:226612400-226613000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:226612400-226613000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:226612400-226613000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:226612400-226613000	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:226612400-226613000	Enhancers	Brain Hippocampus Middle	brain
43	chr1:226612400-226613000	Enhancers	Placenta	Placenta
44	chr1:226612400-226613200	Enhancers	Primary B cells from cord blood	blood
45	chr1:226612400-226613200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr1:226612400-226613200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:226612400-226613200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:226612400-226613200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:226612400-226613200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:226612400-226613200	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links