Variant report

Variant	esv3447045
Chromosome Location	chr1:197133898-197134099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197121011..197127851-chr1:197128597..197135190,9	K562	blood:
2	chr1:197112460..197117731-chr1:197129268..197134426,6	K562	blood:
3	chr1:197130853..197132396-chr1:197133681..197135184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066279	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71631887	chr1:197133898-197133899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71131747	chr1:197133903-197133904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs71582077	chr1:197133919-197133920	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186226792	chr1:197133923-197133924	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs61819113	chr1:197133927-197133928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558246520	chr1:197133950-197133951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs180786767	chr1:197133957-197133958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566221514	chr1:197133970-197133971	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113363646	chr1:197133979-197133980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186543187	chr1:197133991-197133992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71131748	chr1:197133997-197133998	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71579087	chr1:197134012-197134013	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191004897	chr1:197134015-197134016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183200069	chr1:197134025-197134026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71131749	chr1:197134031-197134032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375944122	chr1:197134084-197134085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186101838	chr1:197134095-197134096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116400-197134800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:197116400-197138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:197116400-197142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:197116400-197142200	Weak transcription	HUVEC	blood vessel
5	chr1:197116400-197142400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:197116400-197142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:197116400-197142600	Weak transcription	Fetal Brain Female	brain
8	chr1:197116400-197146200	Weak transcription	Gastric	stomach
9	chr1:197116400-197155000	Weak transcription	Fetal Brain Male	brain
10	chr1:197116600-197135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:197116600-197142600	Weak transcription	HMEC	breast
12	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:197116800-197143200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:197117000-197142600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:197121600-197154800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:197122400-197134800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:197123800-197143200	Weak transcription	Thymus	Thymus
18	chr1:197123800-197147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:197124200-197136000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:197124200-197140600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:197124200-197143200	Weak transcription	Fetal Heart	heart
22	chr1:197124400-197139600	Weak transcription	GM12878-XiMat	blood
23	chr1:197124600-197142600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:197124600-197155400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:197124800-197139600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:197124800-197144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:197125000-197142400	Weak transcription	Fetal Kidney	kidney
28	chr1:197125200-197141600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:197125200-197142600	Weak transcription	Small Intestine	intestine
30	chr1:197125200-197142800	Weak transcription	NHEK	skin
31	chr1:197125200-197156000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:197125200-197156400	Weak transcription	Right Ventricle	heart
33	chr1:197125400-197155600	Weak transcription	Fetal Stomach	stomach
34	chr1:197125400-197156200	Weak transcription	Pancreas	Pancrea
35	chr1:197125400-197156400	Weak transcription	Aorta	Aorta
36	chr1:197125400-197156400	Weak transcription	Lung	lung
37	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
38	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
40	chr1:197125800-197143000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
42	chr1:197126000-197143000	Weak transcription	Brain Substantia Nigra	brain
43	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:197127000-197148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:197127600-197139200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:197128200-197139600	Weak transcription	Stomach Mucosa	stomach
47	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:197128400-197157000	Weak transcription	Colonic Mucosa	Colon
49	chr1:197128600-197140400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:197128600-197142600	Weak transcription	Brain Germinal Matrix	brain

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