Variant report

Variant	nsv912701
Chromosome Location	chr20:14682334-14848659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1176)
CpG islands
(count:0)
Chromatin interactive
region (count:40)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1176 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

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	chr20:14811032-14811585	GM12878	blood:	n/a	n/a
3	ATF2	chr20:14810438-14811025	GM12878	blood:	n/a	n/a
4	ATF2	chr20:14819109-14819739	GM12878	blood:	n/a	n/a
5	ATF2	chr20:14813148-14813759	GM12878	blood:	n/a	n/a
6	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
7	ATF2	chr20:14841032-14841474	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr20:14811110-14811561	GM12878	blood:	n/a	n/a
9	ATF2	chr20:14841040-14841554	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr20:14819159-14819726	GM12878	blood:	n/a	n/a
11	ATF2	chr20:14813151-14813770	GM12878	blood:	n/a	n/a
12	ATF2	chr20:14810438-14810958	GM12878	blood:	n/a	n/a
13	ATF3	chr20:14826094-14826569	A549	lung:	n/a	n/a
14	ATF3	chr20:14692815-14693406	A549	lung:	n/a	n/a
15	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
16	BACH1	chr20:14841074-14841466	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
18	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
19	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
20	BATF	chr20:14826296-14826501	GM12878	blood:	n/a	chr20:14826450-14826460
21	BATF	chr20:14833838-14834046	GM12878	blood:	n/a	n/a
22	BATF	chr20:14813314-14813717	GM12878	blood:	n/a	n/a
23	BATF	chr20:14782350-14782619	GM12878	blood:	n/a	chr20:14782584-14782592
24	BATF	chr20:14819247-14819774	GM12878	blood:	n/a	chr20:14819441-14819452
25	BATF	chr20:14810508-14810959	GM12878	blood:	n/a	n/a
26	BATF	chr20:14811158-14811471	GM12878	blood:	n/a	n/a
27	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
28	BATF	chr20:14813339-14813704	GM12878	blood:	n/a	n/a
29	BATF	chr20:14810566-14810958	GM12878	blood:	n/a	n/a
30	BATF	chr20:14819170-14819805	GM12878	blood:	n/a	chr20:14819441-14819452
31	BATF	chr20:14811171-14811517	GM12878	blood:	n/a	n/a
32	BCL11A	chr20:14811187-14811493	GM12878	blood:	n/a	n/a
33	BCL11A	chr20:14813340-14813684	GM12878	blood:	n/a	n/a
34	BCL11A	chr20:14841111-14841474	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr20:14810529-14810966	GM12878	blood:	n/a	chr20:14810705-14810714
36	BCL11A	chr20:14819269-14819704	GM12878	blood:	n/a	chr20:14819415-14819424
37	BCL11A	chr20:14810584-14810953	GM12878	blood:	n/a	chr20:14810705-14810714
38	BCL11A	chr20:14811061-14811585	GM12878	blood:	n/a	chr20:14811164-14811173
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	chr20:14833719-14834115	GM12878	blood:	n/a	n/a
42	BCL11A	chr20:14813268-14813779	GM12878	blood:	n/a	n/a
43	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
44	BCL3	chr20:14826038-14826561	A549	lung:	n/a	chr20:14826452-14826461
45	BCL3	chr20:14825912-14826568	A549	lung:	n/a	chr20:14826452-14826461
46	BCLAF1	chr20:14819282-14819800	GM12878	blood:	n/a	chr20:14819415-14819424
47	BHLHE40	chr20:14819263-14819709	GM12878	blood:	n/a	n/a
48	BHLHE40	chr20:14810570-14811822	GM12878	blood:	n/a	n/a
49	BHLHE40	chr20:14833692-14834191	GM12878	blood:	n/a	n/a
50	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
2	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
3	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
4	chr20:14819830..14820468-chr4:11534089..11534643,2	MCF-7	breast:
5	chr20:14838738..14840500-chr20:14846618..14848612,2	MCF-7	breast:
6	chr20:14835355..14837300-chr20:14840386..14842306,2	MCF-7	breast:
7	chr20:14822570..14824766-chr20:14826157..14827975,2	MCF-7	breast:
8	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
9	chr20:14819967..14822472-chr20:14824610..14827210,3	MCF-7	breast:
10	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
11	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
12	chr20:14838738..14840500-chr20:14846618..14848612,2	MCF-7	breast:
13	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
14	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
15	chr20:14825814..14826804-chr20:14859521..14860363,2	MCF-7	breast:
16	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
17	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
18	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
19	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
20	chr20:14819967..14822472-chr20:14824610..14827210,3	MCF-7	breast:
21	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
22	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
23	chr20:14837652..14840600-chr20:14844675..14847639,2	MCF-7	breast:
24	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
25	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
26	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
27	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
28	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
29	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
30	chr20:14845184..14847390-chr20:14926741..14929314,2	MCF-7	breast:
31	chr20:14837652..14840600-chr20:14844675..14847639,2	MCF-7	breast:
32	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
33	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
34	chr20:14824570..14828041-chr20:14829297..14833669,5	MCF-7	breast:
35	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
36	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
37	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
38	chr20:14822570..14824766-chr20:14826157..14827975,2	MCF-7	breast:
39	chr20:14835355..14837300-chr20:14840386..14842306,2	MCF-7	breast:
40	chr20:14824570..14828041-chr20:14829297..14833669,5	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
RPS10P2	TF binding region
ENSG00000227927	chromatin interactions

Extended variants
information (count: 4632 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4632 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135228	chr20:14682334-14682335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187204119	chr20:14682356-14682357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142027880	chr20:14682368-14682369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73612374	chr20:14682388-14682389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532282208	chr20:14682429-14682430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145295367	chr20:14682430-14682431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569257495	chr20:14682448-14682449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75086073	chr20:14682462-14682463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191775438	chr20:14682513-14682514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548647991	chr20:14682551-14682552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6042866	chr20:14682568-14682569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566893095	chr20:14682569-14682570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6042867	chr20:14682638-14682639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73899256	chr20:14682667-14682668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559200648	chr20:14682689-14682690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149220610	chr20:14682693-14682694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183628523	chr20:14682701-14682702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186502117	chr20:14682718-14682719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143415370	chr20:14682719-14682720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200983148	chr20:14682802-14682803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556604806	chr20:14682837-14682838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6042868	chr20:14682863-14682864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76890915	chr20:14682871-14682872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561032833	chr20:14682888-14682889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6135229	chr20:14683029-14683030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539998522	chr20:14683031-14683032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6135230	chr20:14683037-14683038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191346451	chr20:14683079-14683080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77754110	chr20:14683108-14683109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182438062	chr20:14683187-14683188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555591875	chr20:14683199-14683200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562675042	chr20:14683201-14683202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530097023	chr20:14683212-14683213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202177560	chr20:14683214-14683215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373391158	chr20:14683215-14683216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201068826	chr20:14683221-14683222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200029422	chr20:14683225-14683226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202094832	chr20:14683232-14683233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6135232	chr20:14683233-14683234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375005959	chr20:14683236-14683237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71190142	chr20:14683243-14683244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367599930	chr20:14683248-14683249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200287028	chr20:14683273-14683274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540726785	chr20:14683274-14683275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11698211	chr20:14683281-14683282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373374437	chr20:14683284-14683285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201800710	chr20:14683285-14683286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56230758	chr20:14683296-14683297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111696106	chr20:14683298-14683299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530304393	chr20:14683299-14683300	Weak transcription	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:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14679600-14682800	Enhancers	Fetal Intestine Small	intestine
2	chr20:14681600-14682400	Enhancers	Small Intestine	intestine
3	chr20:14681600-14687200	Weak transcription	Liver	Liver
4	chr20:14681600-14698200	Weak transcription	Fetal Kidney	kidney
5	chr20:14681800-14685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:14681800-14685200	Weak transcription	NHEK	skin
7	chr20:14682000-14688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:14682000-14689800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr20:14682200-14684000	Weak transcription	Colon Smooth Muscle	Colon
10	chr20:14682200-14692200	Weak transcription	Fetal Heart	heart
11	chr20:14682200-14693000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:14684000-14684200	Enhancers	Colon Smooth Muscle	Colon
13	chr20:14685000-14686400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:14685200-14685600	Enhancers	NHEK	skin
15	chr20:14685200-14686000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:14685600-14688800	Weak transcription	NHEK	skin
17	chr20:14686000-14688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:14686200-14694600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr20:14686400-14687400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:14687000-14687600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr20:14687200-14688000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:14687200-14688000	Flanking Active TSS	Liver	Liver
23	chr20:14687200-14689000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:14687200-14692800	Weak transcription	Ovary	ovary
25	chr20:14687400-14688000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr20:14687400-14689200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:14687600-14688600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr20:14687600-14688800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr20:14687600-14689200	Enhancers	Fetal Lung	lung
30	chr20:14687600-14692000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr20:14687800-14688200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr20:14688000-14689200	Enhancers	Liver	Liver
33	chr20:14688000-14691400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr20:14688200-14689200	Enhancers	Stomach Mucosa	stomach
35	chr20:14688200-14690800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr20:14688200-14691200	Enhancers	Fetal Intestine Large	intestine
37	chr20:14688600-14688800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr20:14688600-14689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:14688600-14690200	Enhancers	Duodenum Mucosa	Duodenum
40	chr20:14688600-14690800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr20:14688600-14691000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr20:14688600-14693200	Enhancers	A549	lung
43	chr20:14688600-14693600	Enhancers	Fetal Intestine Small	intestine
44	chr20:14688800-14689200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:14688800-14689200	Enhancers	NHEK	skin
46	chr20:14688800-14691000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr20:14688800-14691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr20:14689000-14692400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr20:14689200-14691200	Weak transcription	NHEK	skin
50	chr20:14689200-14691400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links