Variant report

Variant	esv3323284
Chromosome Location	chr1:247020977-247024280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247017312..247021045-chr1:247051011..247055284,3	K562	blood:
2	chr1:247017685..247021797-chr1:247033247..247038806,7	K562	blood:
3	chr1:247014087..247017239-chr1:247019400..247022129,3	K562	blood:
4	chr1:247019729..247021286-chr1:247026744..247028354,2	K562	blood:
5	chr1:247019583..247021599-chr1:247036719..247038806,2	K562	blood:

Variant related genes	Relation type
ENSG00000153207	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371107812	chr1:247021055-247021056	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373884656	chr1:247021076-247021077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs41308162	chr1:247021085-247021086	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547819324	chr1:247021090-247021091	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs41310593	chr1:247021138-247021139	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs556378764	chr1:247021141-247021142	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367848739	chr1:247021150-247021151	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370331065	chr1:247021151-247021152	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576423699	chr1:247021170-247021171	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142302349	chr1:247021171-247021172	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374963100	chr1:247021259-247021260	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201150652	chr1:247021260-247021261	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149611336	chr1:247021265-247021266	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111386980	chr1:247021266-247021267	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143410016	chr1:247021267-247021268	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58579338	chr1:247021268-247021269	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77746851	chr1:247021269-247021270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116163292	chr1:247021271-247021272	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111882101	chr1:247021300-247021301	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571979893	chr1:247021311-247021312	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540840495	chr1:247021347-247021348	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577389594	chr1:247021363-247021364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139833065	chr1:247021380-247021381	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532869171	chr1:247021389-247021390	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551263477	chr1:247021410-247021411	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374904963	chr1:247021449-247021450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563230390	chr1:247021541-247021542	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79369288	chr1:247021559-247021560	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548680632	chr1:247021585-247021586	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568793109	chr1:247021602-247021603	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527956977	chr1:247021606-247021607	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145681656	chr1:247021617-247021618	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74391332	chr1:247021673-247021674	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539635710	chr1:247021680-247021681	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147752536	chr1:247021702-247021703	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142622327	chr1:247021722-247021723	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535862446	chr1:247021730-247021731	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149835592	chr1:247021732-247021733	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572020820	chr1:247021750-247021751	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540883028	chr1:247021758-247021759	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73142239	chr1:247021797-247021798	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188410138	chr1:247021820-247021821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543237330	chr1:247021860-247021861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7526386	chr1:247021870-247021871	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542623955	chr1:247021927-247021928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559822556	chr1:247021931-247021932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181213354	chr1:247021935-247021936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538463554	chr1:247021953-247021954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533140055	chr1:247021963-247021964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141147858	chr1:247021964-247021965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
10	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:247003400-247022600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:247003400-247044600	Strong transcription	Dnd41	blood
15	chr1:247004000-247022200	Strong transcription	Fetal Intestine Large	intestine
16	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
19	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:247004200-247021200	Strong transcription	A549	lung
21	chr1:247004200-247025200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:247004200-247025400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:247004200-247044400	Strong transcription	Liver	Liver
28	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:247004400-247025200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:247004400-247025200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:247004400-247025400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:247004400-247025600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
34	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:247005200-247025600	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
37	chr1:247005800-247025400	Strong transcription	Primary B cells from cord blood	blood
38	chr1:247005800-247025400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr1:247006000-247029000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:247008000-247021400	Strong transcription	NH-A	brain
42	chr1:247008800-247027800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:247009000-247025200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr1:247009000-247025200	Strong transcription	Placenta	Placenta
45	chr1:247009200-247024800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:247009600-247031000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:247010600-247025400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:247010600-247025600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:247010600-247029000	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links