Variant report

Variant	nsv1066982
Chromosome Location	chr20:14702890-14850905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:967)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:14706954-14707154	K562	blood:	n/a	n/a
2	ATF2	chr20:14819109-14819739	GM12878	blood:	n/a	n/a
3	ATF2	chr20:14841032-14841474	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr20:14819159-14819726	GM12878	blood:	n/a	n/a
5	ATF2	chr20:14813151-14813770	GM12878	blood:	n/a	n/a
6	ATF2	chr20:14813148-14813759	GM12878	blood:	n/a	n/a
7	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
8	ATF2	chr20:14810438-14811025	GM12878	blood:	n/a	n/a
9	ATF2	chr20:14841040-14841554	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr20:14810438-14810958	GM12878	blood:	n/a	n/a
11	ATF2	chr20:14811032-14811585	GM12878	blood:	n/a	n/a
12	ATF2	chr20:14811110-14811561	GM12878	blood:	n/a	n/a
13	ATF3	chr20:14826094-14826569	A549	lung:	n/a	n/a
14	BACH1	chr20:14841074-14841466	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
16	BATF	chr20:14810566-14810958	GM12878	blood:	n/a	n/a
17	BATF	chr20:14810508-14810959	GM12878	blood:	n/a	n/a
18	BATF	chr20:14813314-14813717	GM12878	blood:	n/a	n/a
19	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
20	BATF	chr20:14819247-14819774	GM12878	blood:	n/a	chr20:14819441-14819452
21	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
22	BATF	chr20:14826296-14826501	GM12878	blood:	n/a	chr20:14826450-14826460
23	BATF	chr20:14833838-14834046	GM12878	blood:	n/a	n/a
24	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
25	BATF	chr20:14782350-14782619	GM12878	blood:	n/a	chr20:14782584-14782592
26	BATF	chr20:14811171-14811517	GM12878	blood:	n/a	n/a
27	BATF	chr20:14811158-14811471	GM12878	blood:	n/a	n/a
28	BATF	chr20:14813339-14813704	GM12878	blood:	n/a	n/a
29	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
30	BATF	chr20:14819170-14819805	GM12878	blood:	n/a	chr20:14819441-14819452
31	BCL11A	chr20:14811061-14811585	GM12878	blood:	n/a	chr20:14811164-14811173
32	BCL11A	chr20:14841111-14841474	H1-hESC	embryonic stem cell:	n/a	n/a
33	BCL11A	chr20:14810584-14810953	GM12878	blood:	n/a	chr20:14810705-14810714
34	BCL11A	chr20:14813340-14813684	GM12878	blood:	n/a	n/a
35	BCL11A	chr20:14811187-14811493	GM12878	blood:	n/a	n/a
36	BCL11A	chr20:14813268-14813779	GM12878	blood:	n/a	n/a
37	BCL11A	chr20:14833719-14834115	GM12878	blood:	n/a	n/a
38	BCL11A	chr20:14819269-14819704	GM12878	blood:	n/a	chr20:14819415-14819424
39	BCL11A	chr20:14819190-14819731	GM12878	blood:	n/a	chr20:14819415-14819424
40	BCL11A	chr20:14833756-14834084	GM12878	blood:	n/a	n/a
41	BCL11A	chr20:14810529-14810966	GM12878	blood:	n/a	chr20:14810705-14810714
42	BCL3	chr20:14825912-14826568	A549	lung:	n/a	chr20:14826452-14826461
43	BCL3	chr20:14826038-14826561	A549	lung:	n/a	chr20:14826452-14826461
44	BCLAF1	chr20:14819282-14819800	GM12878	blood:	n/a	chr20:14819415-14819424
45	BHLHE40	chr20:14833692-14834191	GM12878	blood:	n/a	n/a
46	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
47	BHLHE40	chr20:14813359-14813737	GM12878	blood:	n/a	n/a
48	BHLHE40	chr20:14810570-14811822	GM12878	blood:	n/a	n/a
49	BHLHE40	chr20:14819263-14819709	GM12878	blood:	n/a	n/a
50	BRCA1	chr20:14832587-14832693	GM12878	blood:	n/a	n/a

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
2	chr20:14835355..14837300-chr20:14840386..14842306,2	MCF-7	breast:
3	chr20:14838738..14840500-chr20:14846618..14848612,2	MCF-7	breast:
4	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
5	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
6	chr20:14822570..14824766-chr20:14826157..14827975,2	MCF-7	breast:
7	chr20:14837652..14840600-chr20:14844675..14847639,2	MCF-7	breast:
8	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
9	chr20:14838738..14840500-chr20:14846618..14848612,2	MCF-7	breast:
10	chr20:14819967..14822472-chr20:14824610..14827210,3	MCF-7	breast:
11	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
12	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
13	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
14	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
15	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
16	chr20:14835355..14837300-chr20:14840386..14842306,2	MCF-7	breast:
17	chr20:14825814..14826804-chr20:14859521..14860363,2	MCF-7	breast:
18	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
19	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
20	chr20:14845184..14847390-chr20:14926741..14929314,2	MCF-7	breast:
21	chr20:14837652..14840600-chr20:14844675..14847639,2	MCF-7	breast:
22	chr20:14822570..14824766-chr20:14826157..14827975,2	MCF-7	breast:
23	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
24	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
25	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
26	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
27	chr20:14824570..14828041-chr20:14829297..14833669,5	MCF-7	breast:
28	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
29	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
30	chr20:14819830..14820468-chr4:11534089..11534643,2	MCF-7	breast:
31	chr20:14819967..14822472-chr20:14824610..14827210,3	MCF-7	breast:
32	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
33	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
34	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
35	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
36	chr20:14824570..14828041-chr20:14829297..14833669,5	MCF-7	breast:
37	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FLRT3-4	chr20:14812896-14813240	ucscGeneNc_uc002woy_1
2	lnc-C20orf7-3	chr20:14830550-14830649	NONHSAT078714
3	lnc-FLRT3-4	chr20:14816742-14816950	ucscGeneNc_uc002woy_1
4	lnc-C20orf7-3	chr20:14830550-14831152	NONHSAT078716

No data

Variant related genes	Relation type
RPS10P2	TF binding region

Extended variants
information (count: 3906 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3906 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6034019	chr20:14702915-14702916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554561441	chr20:14702951-14702952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7354039	chr20:14703019-14703020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563120905	chr20:14703101-14703102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530463433	chr20:14703102-14703103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78090585	chr20:14703108-14703109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558964531	chr20:14703132-14703133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145338830	chr20:14703196-14703197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544675444	chr20:14703201-14703202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28559816	chr20:14703231-14703232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7354063	chr20:14703291-14703292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7354075	chr20:14703303-14703304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147702815	chr20:14703369-14703370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116837333	chr20:14703437-14703438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560605187	chr20:14703470-14703471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575797478	chr20:14703517-14703518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528014523	chr20:14703535-14703536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552470884	chr20:14703565-14703566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570873949	chr20:14703680-14703681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113162680	chr20:14703757-14703758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375057621	chr20:14703760-14703761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550260228	chr20:14703786-14703787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369556698	chr20:14703835-14703836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568654966	chr20:14703843-14703844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186699406	chr20:14703867-14703868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112520299	chr20:14703878-14703879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566573506	chr20:14703889-14703890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6135235	chr20:14703967-14703968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558902087	chr20:14704019-14704020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182431541	chr20:14704071-14704072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148973861	chr20:14704109-14704110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370355722	chr20:14704111-14704112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530015633	chr20:14704120-14704121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556685232	chr20:14704129-14704130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574911532	chr20:14704156-14704157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78840651	chr20:14704169-14704170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560706289	chr20:14704173-14704174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527893202	chr20:14704180-14704181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372667672	chr20:14704380-14704381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546045475	chr20:14704396-14704397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547288177	chr20:14704475-14704476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117585338	chr20:14704491-14704492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531973543	chr20:14704627-14704628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550198590	chr20:14704646-14704647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117853248	chr20:14704690-14704691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377555316	chr20:14704761-14704762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529767973	chr20:14704804-14704805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376945252	chr20:14704806-14704807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370491317	chr20:14704807-14704808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6110406	chr20:14704825-14704826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14697600-14703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr20:14697600-14706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:14698600-14707000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:14702200-14703200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:14702200-14703200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:14702600-14703000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr20:14702800-14703800	Weak transcription	GM12878-XiMat	blood
8	chr20:14703800-14705000	Enhancers	GM12878-XiMat	blood
9	chr20:14705000-14705200	Flanking Active TSS	GM12878-XiMat	blood
10	chr20:14705200-14705400	Enhancers	GM12878-XiMat	blood
11	chr20:14705400-14705600	Flanking Active TSS	GM12878-XiMat	blood
12	chr20:14705600-14705800	Enhancers	GM12878-XiMat	blood
13	chr20:14706200-14706400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:14706400-14707000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:14707000-14707200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:14707200-14709600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:14709400-14710200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr20:14710000-14710200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:14710000-14710400	Enhancers	Liver	Liver
20	chr20:14710000-14710400	Enhancers	HepG2	liver
21	chr20:14710000-14710600	Enhancers	Stomach Mucosa	stomach
22	chr20:14710200-14710400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr20:14710400-14713000	Weak transcription	Liver	Liver
24	chr20:14710600-14712000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr20:14710600-14713000	Weak transcription	Stomach Mucosa	stomach
26	chr20:14711600-14714600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:14712000-14713400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr20:14712800-14713600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr20:14713000-14713400	Enhancers	Fetal Kidney	kidney
30	chr20:14713000-14713600	Enhancers	Stomach Mucosa	stomach
31	chr20:14713000-14713800	Enhancers	Liver	Liver
32	chr20:14713200-14713600	Enhancers	Hela-S3	cervix
33	chr20:14713200-14713800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:14719000-14719200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr20:14719200-14721000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr20:14720600-14721800	Enhancers	Fetal Brain Male	brain
37	chr20:14721000-14721400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:14721000-14721400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr20:14721000-14721800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr20:14721200-14721600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr20:14721200-14721800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr20:14721200-14721800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr20:14721200-14721800	Enhancers	Fetal Brain Female	brain
44	chr20:14721200-14722000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr20:14721200-14722000	Enhancers	Brain Germinal Matrix	brain
46	chr20:14721400-14721600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr20:14721600-14726800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr20:14724800-14726200	Enhancers	GM12878-XiMat	blood
49	chr20:14726000-14727600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr20:14726200-14726600	Enhancers	Fetal Kidney	kidney

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