Variant report

Variant	nsv522369
Chromosome Location	chr4:7826824-7831977
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7813012..7814874-chr4:7831248..7833770,2	K562	blood:
2	chr4:7817490..7820534-chr4:7830199..7832039,3	K562	blood:
3	chr4:7822325..7825462-chr4:7828397..7830973,3	K562	blood:
4	chr4:7824818..7826333-chr4:7830997..7833193,2	K562	blood:
5	chr4:7817490..7819833-chr4:7830199..7832039,2	K562	blood:
6	chr4:7828803..7835270-chr4:7836618..7840776,8	K562	blood:
7	chr4:7828718..7832914-chr4:7842245..7845071,3	K562	blood:
8	chr4:7825242..7828581-chr4:7828624..7832177,3	MCF-7	breast:
9	chr4:7822325..7824045-chr4:7827904..7830215,2	K562	blood:
10	chr4:7818745..7823196-chr4:7823235..7826855,4	K562	blood:
11	chr4:7825242..7828581-chr4:7828624..7832177,3	MCF-7	breast:
12	chr4:7821478..7824762-chr4:7830984..7832919,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SORCS2-3	chr4:7824831-7831552	refGeneNc_1113_NR_026892

No data

Extended variants
information (count: 262 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7440527	chr4:7826824-7826825	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566155861	chr4:7826825-7826826	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs536825342	chr4:7826845-7826846	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs143954959	chr4:7826914-7826915	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs548669286	chr4:7826922-7826923	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs4689877	chr4:7826928-7826929	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376537191	chr4:7826943-7826944	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs372119933	chr4:7826944-7826945	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs34026688	chr4:7826966-7826967	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs192196190	chr4:7826969-7826970	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs140256943	chr4:7826977-7826978	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182353234	chr4:7827002-7827003	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142719053	chr4:7827016-7827017	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554000742	chr4:7827027-7827028	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs572170627	chr4:7827063-7827064	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs559185565	chr4:7827068-7827069	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs77131534	chr4:7827085-7827086	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs555110110	chr4:7827219-7827220	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs368245218	chr4:7827223-7827224	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576656030	chr4:7827237-7827238	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547971103	chr4:7827267-7827268	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs565312224	chr4:7827275-7827276	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs185038951	chr4:7827276-7827277	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs552711056	chr4:7827297-7827298	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs541380920	chr4:7827300-7827301	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs543332922	chr4:7827304-7827305	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs530238090	chr4:7827308-7827309	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs114885688	chr4:7827326-7827327	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs189553145	chr4:7827343-7827344	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs182539558	chr4:7827355-7827356	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs372572783	chr4:7827393-7827394	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs563187034	chr4:7827412-7827413	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs549452514	chr4:7827427-7827428	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs571172712	chr4:7827441-7827442	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs74942050	chr4:7827506-7827507	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs538602537	chr4:7827516-7827517	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs553785684	chr4:7827521-7827522	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs114786209	chr4:7827546-7827547	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs536541333	chr4:7827561-7827562	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs554831578	chr4:7827607-7827608	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs188157196	chr4:7827635-7827636	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs192934890	chr4:7827655-7827656	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs56032709	chr4:7827681-7827682	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543948559	chr4:7827682-7827683	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs74803225	chr4:7827696-7827697	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs397934006	chr4:7827697-7827698	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs115449911	chr4:7827746-7827747	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs34549702	chr4:7827784-7827785	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs79908004	chr4:7827828-7827829	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs541372494	chr4:7827850-7827851	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:7791000-7829400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:7800600-7828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:7804000-7829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:7808600-7830000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:7809600-7828000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:7813400-7829800	Weak transcription	Spleen	Spleen
9	chr4:7814800-7829800	Genic enhancers	Osteobl	bone
10	chr4:7818000-7830000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:7818200-7829400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:7818800-7828200	Weak transcription	Hela-S3	cervix
13	chr4:7819800-7834400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:7820800-7828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:7820800-7828400	Weak transcription	NHEK	skin
16	chr4:7821000-7829200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:7821000-7829200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:7821000-7829400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:7821000-7829400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:7821000-7830400	Weak transcription	Esophagus	oesophagus
21	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
22	chr4:7821400-7829400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:7821400-7829800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:7822400-7827400	Enhancers	Fetal Lung	lung
25	chr4:7822600-7828000	Weak transcription	Colonic Mucosa	Colon
26	chr4:7823200-7828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:7823400-7827400	Enhancers	Fetal Kidney	kidney
28	chr4:7823400-7827800	Genic enhancers	NH-A	brain
29	chr4:7823400-7828000	Weak transcription	Lung	lung
30	chr4:7823400-7829400	Weak transcription	HMEC	breast
31	chr4:7823800-7828000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:7823800-7828000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:7823800-7830200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:7824000-7827000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:7824000-7827200	Enhancers	Fetal Intestine Large	intestine
36	chr4:7824000-7827200	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:7824000-7827800	Enhancers	Fetal Stomach	stomach
38	chr4:7824600-7834600	Genic enhancers	HUVEC	blood vessel
39	chr4:7824800-7827000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:7825200-7828800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:7825400-7827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:7825400-7827800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:7825400-7829400	Weak transcription	Brain Angular Gyrus	brain
44	chr4:7825400-7829800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:7825400-7839400	Weak transcription	Pancreas	Pancrea
46	chr4:7825600-7827800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:7825600-7828000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:7825600-7829400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:7825600-7829400	Weak transcription	Left Ventricle	heart
50	chr4:7825600-7829400	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links