Variant report

Variant	nsv826897
Chromosome Location	chr1:226357549-226360483
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226356179..226357804-chr1:226359489..226362150,3	K562	blood:
2	chr1:226355519..226358833-chr1:226364229..226365851,3	MCF-7	breast:
3	chr1:226356179..226357747-chr1:226359489..226362150,2	K562	blood:
4	chr1:226356179..226357804-chr1:226359489..226362150,3	K562	blood:
5	chr1:226349407..226351925-chr1:226359962..226362068,2	MCF-7	breast:
6	chr1:226358815..226361427-chr1:226363128..226364721,2	K562	blood:
7	chr1:226358815..226361446-chr1:226363128..226365124,4	K562	blood:
8	chr1:226356179..226357747-chr1:226359489..226362150,2	K562	blood:

No data

Extended variants
information (count: 111 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564099669	chr1:226357642-226357643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543664788	chr1:226357649-226357650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528430787	chr1:226357706-226357707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377557972	chr1:226357721-226357722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563342253	chr1:226357774-226357775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72759068	chr1:226357792-226357793	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72759069	chr1:226357793-226357794	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs5781423	chr1:226357852-226357853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67197406	chr1:226357863-226357864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67197407	chr1:226357864-226357865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535537528	chr1:226357865-226357866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200784308	chr1:226357866-226357867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5781424	chr1:226357872-226357873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397961545	chr1:226357876-226357877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559575783	chr1:226357922-226357923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373181431	chr1:226357944-226357945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570052867	chr1:226358003-226358004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71574563	chr1:226358056-226358057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377673642	chr1:226358100-226358101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4376699	chr1:226358110-226358111	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552326711	chr1:226358133-226358134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58418279	chr1:226358145-226358146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570807693	chr1:226358147-226358148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548080067	chr1:226358152-226358153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527412738	chr1:226358164-226358165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568403373	chr1:226358165-226358166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193009015	chr1:226358171-226358172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189169278	chr1:226358185-226358186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4653720	chr1:226358195-226358196	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs367655596	chr1:226358196-226358197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192800963	chr1:226358213-226358214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535658723	chr1:226358241-226358242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74471200	chr1:226358295-226358296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538108334	chr1:226358300-226358301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185506329	chr1:226358302-226358303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562842502	chr1:226358307-226358308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368367377	chr1:226358308-226358309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368493832	chr1:226358314-226358315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539504172	chr1:226358319-226358320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16845655	chr1:226358326-226358327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570485469	chr1:226358369-226358370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138335003	chr1:226358397-226358398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373438488	chr1:226358399-226358400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190736358	chr1:226358416-226358417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540198725	chr1:226358467-226358468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181979627	chr1:226358472-226358473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573932773	chr1:226358522-226358523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544123792	chr1:226358569-226358570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149339816	chr1:226358592-226358593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370325847	chr1:226358614-226358615	Weak transcription Strong transcription Enhancers	n/a	n/a	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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:226340400-226369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226347000-226369600	Weak transcription	Psoas Muscle	Psoas
4	chr1:226348800-226365200	Weak transcription	NHEK	skin
5	chr1:226349000-226366400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:226349400-226369200	Weak transcription	Fetal Heart	heart
8	chr1:226349800-226366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:226350000-226363200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:226350000-226370200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:226350600-226363800	Weak transcription	Aorta	Aorta
13	chr1:226350600-226369000	Weak transcription	Hela-S3	cervix
14	chr1:226350800-226369600	Weak transcription	Right Ventricle	heart
15	chr1:226351000-226369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:226351200-226360000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
18	chr1:226352400-226363200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:226352400-226365200	Weak transcription	HMEC	breast
20	chr1:226352400-226368200	Weak transcription	HSMM	muscle
21	chr1:226352600-226358400	Weak transcription	Gastric	stomach
22	chr1:226352600-226360000	Weak transcription	K562	blood
23	chr1:226352600-226360200	Weak transcription	Small Intestine	intestine
24	chr1:226352600-226360400	Weak transcription	Pancreas	Pancrea
25	chr1:226352600-226360400	Weak transcription	Spleen	Spleen
26	chr1:226352600-226365200	Weak transcription	A549	lung
27	chr1:226352600-226369200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:226352600-226370000	Weak transcription	Fetal Brain Female	brain
29	chr1:226352600-226370400	Weak transcription	Brain Angular Gyrus	brain
30	chr1:226352600-226372200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:226352600-226372400	Weak transcription	Brain Anterior Caudate	brain
32	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
35	chr1:226352800-226365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:226352800-226372000	Weak transcription	Colonic Mucosa	Colon
37	chr1:226353000-226359800	Weak transcription	GM12878-XiMat	blood
38	chr1:226353000-226360000	Weak transcription	Lung	lung
39	chr1:226353000-226363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:226353000-226369400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:226353000-226369600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:226353000-226370200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:226353000-226372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:226353200-226360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:226353200-226365000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:226353200-226365600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:226353200-226369600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:226353200-226372000	Weak transcription	HUVEC	blood vessel
49	chr1:226353400-226372400	Weak transcription	Brain Germinal Matrix	brain
50	chr1:226353600-226360000	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links