Variant report

Variant	esv1825303
Chromosome Location	chr1:226458998-226481551
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226466295..226469274-chr1:226471370..226476261,5	K562	blood:
2	chr1:226458655..226460444-chr1:226472837..226474997,2	K562	blood:
3	chr1:226470598..226472193-chr1:226496407..226498151,2	K562	blood:
4	chr1:226464969..226471191-chr1:226471370..226476817,8	K562	blood:
5	chr1:226466295..226469274-chr1:226471370..226476261,5	K562	blood:
6	chr1:226477794..226479841-chr1:226593170..226595597,2	K562	blood:
7	chr1:226470233..226472649-chr1:226494843..226497291,2	MCF-7	breast:
8	chr1:226453143..226455429-chr1:226463834..226465508,2	K562	blood:
9	chr1:226454792..226456296-chr1:226459782..226462357,2	K562	blood:
10	chr1:226475512..226477656-chr1:226479328..226480832,2	MCF-7	breast:
11	chr1:226403012..226406009-chr1:226466558..226469360,2	MCF-7	breast:
12	chr1:226458655..226460444-chr1:226472837..226474997,2	K562	blood:
13	chr1:226478918..226482227-chr1:226494671..226498493,6	MCF-7	breast:
14	chr1:226464969..226471191-chr1:226471370..226476817,8	K562	blood:
15	chr1:226475512..226477656-chr1:226479328..226480832,2	MCF-7	breast:
16	chr1:226249763..226251316-chr1:226473149..226474908,2	MCF-7	breast:
17	chr1:226473672..226479904-chr1:226493578..226497887,7	K562	blood:
18	chr1:226480171..226482069-chr1:226492997..226494940,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183814	chromatin interactions
ENSG00000163041	chromatin interactions

Extended variants
information (count: 783 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12137426	chr1:226458998-226458999	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374194494	chr1:226459024-226459025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116777449	chr1:226459036-226459037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545612421	chr1:226459037-226459038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561626263	chr1:226459056-226459057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187875564	chr1:226459080-226459081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377140499	chr1:226459229-226459230	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs193092382	chr1:226459243-226459244	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576838629	chr1:226459251-226459252	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544114733	chr1:226459253-226459254	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565546221	chr1:226459267-226459268	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377625845	chr1:226459380-226459381	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532777490	chr1:226459398-226459399	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541566180	chr1:226459433-226459434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144031394	chr1:226459493-226459494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10799344	chr1:226459577-226459578	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs201435257	chr1:226459596-226459597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146430128	chr1:226459627-226459628	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530402949	chr1:226459686-226459687	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548076606	chr1:226459692-226459693	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35313284	chr1:226459722-226459723	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397774210	chr1:226459729-226459730	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397813166	chr1:226459730-226459731	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201408490	chr1:226459731-226459732	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202000408	chr1:226459733-226459734	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200064657	chr1:226459749-226459750	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112983670	chr1:226459781-226459782	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185844477	chr1:226459881-226459882	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189931614	chr1:226459945-226459946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192276101	chr1:226459963-226459964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570367203	chr1:226459966-226459967	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534515585	chr1:226460001-226460002	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546762616	chr1:226460048-226460049	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566085827	chr1:226460082-226460083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570128823	chr1:226460083-226460084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75580231	chr1:226460097-226460098	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76680840	chr1:226460099-226460100	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112433000	chr1:226460100-226460101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184621650	chr1:226460137-226460138	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188553930	chr1:226460159-226460160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112005690	chr1:226460166-226460167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559299988	chr1:226460184-226460185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7552015	chr1:226460188-226460189	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs541305562	chr1:226460202-226460203	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555346267	chr1:226460241-226460242	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76033931	chr1:226460260-226460261	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116126092	chr1:226460285-226460286	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574477874	chr1:226460289-226460290	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143143591	chr1:226460305-226460306	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566099854	chr1:226460320-226460321	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
2	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:226415800-226495400	Weak transcription	Liver	Liver
6	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
8	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
11	chr1:226438400-226473400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:226448200-226459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:226448200-226461600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:226448200-226467200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:226448400-226459800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:226449000-226460400	Weak transcription	Pancreas	Pancrea
19	chr1:226449800-226470600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:226449800-226484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:226450000-226465600	Strong transcription	Dnd41	blood
22	chr1:226450000-226484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:226450600-226463400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:226450800-226495600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:226451000-226483400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:226451200-226474600	Weak transcription	Primary B cells from cord blood	blood
27	chr1:226451200-226481000	Weak transcription	Fetal Brain Female	brain
28	chr1:226451200-226489000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:226451800-226460400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:226451800-226474000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:226451800-226474000	Weak transcription	HUVEC	blood vessel
32	chr1:226451800-226480000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:226452000-226481800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:226452000-226496000	Weak transcription	Fetal Lung	lung
35	chr1:226452400-226471000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:226452600-226459800	Weak transcription	Left Ventricle	heart
37	chr1:226452600-226466600	Weak transcription	Fetal Stomach	stomach
38	chr1:226452800-226482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:226453400-226464400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:226453400-226470600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:226453400-226478200	Weak transcription	Fetal Intestine Large	intestine
42	chr1:226453400-226484600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:226453600-226473800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:226454000-226462800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:226454200-226469600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:226455000-226486000	Weak transcription	Spleen	Spleen
47	chr1:226455200-226459600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:226455200-226470600	Weak transcription	Fetal Intestine Small	intestine
49	chr1:226455800-226462800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:226456000-226472600	Weak transcription	Hela-S3	cervix

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