Variant report

Variant	nsv823143
Chromosome Location	chr1:70648034-70650285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70649433-70649670	K562	blood:	n/a	n/a
2	POLR2A	chr1:70649733-70649889	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:70648453..70650551-chr1:70669732..70672343,2	K562	blood:
2	chr1:70648453..70649982-chr1:70670347..70672343,2	K562	blood:
3	chr1:70645372..70647137-chr1:70649997..70652208,2	K562	blood:
4	chr1:70638421..70640629-chr1:70646312..70648829,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL242P	TF binding region
ENSG00000116754	chromatin interactions
ENSG00000244389	chromatin interactions
ENSG00000066557	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561345410	chr1:70648075-70648076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376832600	chr1:70648130-70648131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199543397	chr1:70648219-70648220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530381433	chr1:70648222-70648223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550172091	chr1:70648226-70648227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74085999	chr1:70648231-70648232	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35415863	chr1:70648280-70648281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532908364	chr1:70648318-70648319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544972283	chr1:70648365-70648366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79354602	chr1:70648366-70648367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566590175	chr1:70648375-70648376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555813763	chr1:70648398-70648399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188696073	chr1:70648425-70648426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181119355	chr1:70648468-70648469	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186982125	chr1:70648486-70648487	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531186266	chr1:70648497-70648498	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs140261294	chr1:70648533-70648534	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537406694	chr1:70648543-70648544	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs72929203	chr1:70648638-70648639	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549881627	chr1:70648653-70648654	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577244351	chr1:70648714-70648715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs269279	chr1:70648724-70648725	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553525380	chr1:70648857-70648858	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573408166	chr1:70649010-70649011	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145194943	chr1:70649019-70649020	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562006353	chr1:70649054-70649055	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575168903	chr1:70649055-70649056	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543779353	chr1:70649071-70649072	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114276322	chr1:70649127-70649128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61785269	chr1:70649135-70649136	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs191466937	chr1:70649164-70649165	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs146457620	chr1:70649169-70649170	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529037873	chr1:70649175-70649176	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549213393	chr1:70649190-70649191	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111466569	chr1:70649222-70649223	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369888127	chr1:70649250-70649251	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs76091413	chr1:70649264-70649265	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550976408	chr1:70649316-70649317	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140760420	chr1:70649336-70649337	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377179853	chr1:70649439-70649440	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs374185351	chr1:70649516-70649517	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs78425699	chr1:70649555-70649556	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs184108247	chr1:70649637-70649638	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs535619942	chr1:70649651-70649652	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs559976396	chr1:70649656-70649657	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs12746078	chr1:70649697-70649698	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12725732	chr1:70649702-70649703	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs575511138	chr1:70649713-70649714	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536493464	chr1:70649719-70649720	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs544539023	chr1:70649728-70649729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:70603400-70648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:70606800-70651600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
6	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
7	chr1:70607200-70652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:70607400-70655200	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:70608400-70653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:70608800-70654800	Weak transcription	Thymus	Thymus
11	chr1:70608800-70655800	Weak transcription	Esophagus	oesophagus
12	chr1:70609200-70650200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:70609400-70649800	Weak transcription	Fetal Brain Male	brain
14	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:70610000-70667800	Weak transcription	HepG2	liver
17	chr1:70610400-70650200	Weak transcription	GM12878-XiMat	blood
18	chr1:70610400-70653600	Weak transcription	Gastric	stomach
19	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
22	chr1:70611400-70652800	Weak transcription	Spleen	Spleen
23	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
24	chr1:70613000-70649200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:70613800-70649200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:70614400-70651000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
32	chr1:70615000-70670000	Weak transcription	NH-A	brain
33	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:70615200-70649200	Weak transcription	Left Ventricle	heart
35	chr1:70616400-70649200	Weak transcription	Fetal Lung	lung
36	chr1:70622600-70651400	Weak transcription	HMEC	breast
37	chr1:70623000-70656600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:70623000-70661600	Weak transcription	K562	blood
39	chr1:70623200-70652000	Weak transcription	Osteobl	bone
40	chr1:70624000-70650200	Weak transcription	Hela-S3	cervix
41	chr1:70624200-70648600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:70626800-70649800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:70632600-70656800	Weak transcription	NHLF	lung
45	chr1:70634000-70670400	Weak transcription	Lung	lung
46	chr1:70634200-70658000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:70634400-70649200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:70634400-70649200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
50	chr1:70634600-70656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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