Variant report

Variant	nsv884108
Chromosome Location	chr6:30821187-30838497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:30825244-30825682	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:30825261-30825669	GM12878	blood:	n/a	n/a
3	BCLAF1	chr6:30825292-30825827	GM12878	blood:	n/a	n/a
4	BHLHE40	chr6:30825385-30825616	GM12878	blood:	n/a	n/a
5	CBX3	chr6:30836955-30837352	K562	blood:	n/a	n/a
6	CBX3	chr6:30836949-30837410	K562	blood:	n/a	n/a
7	CBX3	chr6:30836868-30837253	HCT-116	colon:	n/a	n/a
8	CBX3	chr6:30827484-30827891	K562	blood:	n/a	n/a
9	CBX3	chr6:30826685-30827036	K562	blood:	n/a	n/a
10	CBX3	chr6:30827313-30828013	K562	blood:	n/a	n/a
11	CEBPB	chr6:30821777-30821888	Hela-S3	cervix:	n/a	chr6:30821833-30821844
12	CEBPB	chr6:30821817-30821898	IMR90	lung:	n/a	chr6:30821833-30821844
13	CEBPB	chr6:30821806-30821841	K562	blood:	n/a	n/a
14	CEBPB	chr6:30837127-30837422	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr6:30821780-30821956	HepG2	liver:	n/a	chr6:30821833-30821844
16	CHD2	chr6:30825386-30825629	GM12878	blood:	n/a	n/a
17	CTCF	chr6:30830260-30830410	WI-38	lung:	n/a	n/a
18	EP300	chr6:30825338-30825614	GM12878	blood:	n/a	n/a
19	EP300	chr6:30825130-30825820	ECC-1	luminal epithelium:	n/a	chr6:30825625-30825635
20	EP300	chr6:30825410-30825612	GM12878	blood:	n/a	n/a
21	EP300	chr6:30837164-30837178	K562	blood:	n/a	n/a
22	ESR1	chr6:30825326-30825650	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr6:30825301-30825620	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr6:30825306-30825649	ECC-1	luminal epithelium:	n/a	n/a
25	FOXA1	chr6:30825339-30825598	ECC-1	luminal epithelium:	n/a	n/a
26	FOXA1	chr6:30825340-30825636	HepG2	liver:	n/a	n/a
27	FOXA1	chr6:30825251-30825774	HepG2	liver:	n/a	n/a
28	FOXM1	chr6:30825130-30825789	GM12878	blood:	n/a	n/a
29	FOXP2	chr6:30837164-30837535	SK-N-MC	brain:	n/a	n/a
30	GATA3	chr6:30825434-30825813	T-47D	breast:	n/a	n/a
31	GATA3	chr6:30837191-30837401	T-47D	breast:	n/a	n/a
32	GATA3	chr6:30825437-30825698	T-47D	breast:	n/a	n/a
33	HNF4A	chr6:30823521-30823887	HepG2	liver:	n/a	chr6:30823655-30823670
34	HNF4A	chr6:30823418-30823801	HepG2	liver:	n/a	chr6:30823655-30823670
35	HNF4G	chr6:30823496-30823808	HepG2	liver:	n/a	chr6:30823656-30823671
36	KAP1	chr6:30827509-30827965	HEK293	kidney:	n/a	n/a
37	KAP1	chr6:30825036-30825847	HEK293	kidney:	n/a	n/a
38	KAP1	chr6:30836545-30837755	K562	blood:	n/a	n/a
39	KAP1	chr6:30837102-30837442	U2OS	brain:	n/a	n/a
40	KAP1	chr6:30836921-30837593	HEK293	kidney:	n/a	n/a
41	KAP1	chr6:30827478-30827986	K562	blood:	n/a	n/a
42	KAP1	chr6:30825130-30825947	U2OS	brain:	n/a	n/a
43	MAFF	chr6:30823215-30823716	HepG2	liver:	n/a	chr6:30823377-30823395
44	MAFF	chr6:30823241-30823574	K562	blood:	n/a	chr6:30823377-30823395
45	MAFK	chr6:30823334-30823420	Hela-S3	cervix:	n/a	chr6:30823379-30823394
46	MAFK	chr6:30823252-30823549	IMR90	lung:	n/a	chr6:30823379-30823394
47	MAFK	chr6:30823210-30823576	HepG2	liver:	n/a	chr6:30823379-30823394
48	MAFK	chr6:30823218-30823541	H1-hESC	embryonic stem cell:	n/a	chr6:30823379-30823394
49	MAFK	chr6:30823210-30823566	HepG2	liver:	n/a	chr6:30823379-30823394
50	MAX	chr6:30831694-30831713	NB4	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30830444..30833119-chr6:30851282..30854552,3	MCF-7	breast:
2	chr6:30831759..30834658-chr6:30842152..30844825,3	K562	blood:
3	chr6:30837036..30839177-chr6:30843393..30845146,2	K562	blood:
4	chr6:30830259..30832275-chr6:30835833..30838069,3	K562	blood:
5	chr6:30834603..30837451-chr6:30838761..30841524,2	K562	blood:
6	chr6:30823525..30825673-chr6:30833056..30834672,2	K562	blood:
7	chr6:30582957..30586155-chr6:30822684..30826202,3	K562	blood:
8	chr6:30807490..30809248-chr6:30824608..30826344,2	MCF-7	breast:
9	chr6:30521625..30525258-chr6:30837019..30840753,3	K562	blood:
10	chr6:30823525..30825673-chr6:30833056..30834672,2	K562	blood:
11	chr6:30580172..30583109-chr6:30833542..30835483,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDR1-2	chr6:30832027-30832329	NONHSAT108687
2	lnc-SFTA2-10	chr6:30834759-30837610	ENSG00000237775.1

No data

Variant related genes	Relation type
RN7SKP186	TF binding region
ENSG00000204569	chromatin interactions
ENSG00000204576	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000204590	chromatin interactions
ENSG00000202241	chromatin interactions
ENSG00000237775	chromatin interactions
ENSG00000204568	chromatin interactions

Extended variants
information (count: 551 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2250264	chr6:30821187-30821188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553223967	chr6:30821208-30821209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188122061	chr6:30821240-30821241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200699060	chr6:30821285-30821286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545114622	chr6:30821286-30821287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565291177	chr6:30821311-30821312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112065006	chr6:30821331-30821332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13193284	chr6:30821342-30821343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544542494	chr6:30821356-30821357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182035572	chr6:30821357-30821358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9501491	chr6:30821361-30821362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13193408	chr6:30821410-30821411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546754411	chr6:30821425-30821426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3095346	chr6:30821446-30821447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13193123	chr6:30821451-30821452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532223164	chr6:30821452-30821453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4713394	chr6:30821482-30821483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6907658	chr6:30821507-30821508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537420253	chr6:30821512-30821513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550877831	chr6:30821518-30821519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2844661	chr6:30821522-30821523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs13196192	chr6:30821547-30821548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192022746	chr6:30821548-30821549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553523419	chr6:30821562-30821563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368251275	chr6:30821614-30821615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144097089	chr6:30821627-30821628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112037030	chr6:30821745-30821746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146530251	chr6:30821874-30821875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs41272356	chr6:30821985-30821986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375316749	chr6:30822004-30822005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9278782	chr6:30822006-30822007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200906293	chr6:30822007-30822008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112799454	chr6:30822032-30822033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544604049	chr6:30822033-30822034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111480720	chr6:30822034-30822035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62400983	chr6:30822037-30822038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574782660	chr6:30822074-30822075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540091916	chr6:30822244-30822245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560302392	chr6:30822259-30822260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550430140	chr6:30822282-30822283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3095345	chr6:30822413-30822414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs545902394	chr6:30822455-30822456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141089412	chr6:30822491-30822492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531239645	chr6:30822502-30822503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370189331	chr6:30822525-30822526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149777285	chr6:30822555-30822556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547485225	chr6:30822565-30822566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6936364	chr6:30822594-30822595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9501492	chr6:30822688-30822689	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs530337441	chr6:30822704-30822705	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30812400-30822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:30816200-30822200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:30816200-30824600	Weak transcription	Fetal Kidney	kidney
4	chr6:30820600-30823600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:30820600-30824800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:30820600-30825000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:30821600-30822400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:30821600-30822400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr6:30821600-30825000	Enhancers	Placenta	Placenta
10	chr6:30822200-30822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:30822200-30822800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:30822400-30823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:30822400-30823600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:30822400-30823800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:30822600-30822800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:30822600-30822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:30822800-30823200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:30822800-30823200	Enhancers	HepG2	liver
19	chr6:30822800-30823400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:30822800-30825200	Enhancers	Fetal Intestine Large	intestine
21	chr6:30823200-30823400	Enhancers	Colonic Mucosa	Colon
22	chr6:30823200-30823400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:30823200-30823600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:30823200-30823800	Flanking Active TSS	HepG2	liver
25	chr6:30823200-30824000	Enhancers	Duodenum Mucosa	Duodenum
26	chr6:30823200-30824400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr6:30823200-30825200	Enhancers	Fetal Intestine Small	intestine
28	chr6:30823200-30826400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:30823400-30823600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:30823400-30823600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:30823400-30824000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:30823400-30824200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:30823400-30825400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:30823600-30824000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr6:30823600-30826400	Enhancers	Fetal Thymus	thymus
36	chr6:30823600-30835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:30823800-30824600	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr6:30824000-30824200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr6:30824000-30824200	Enhancers	Colonic Mucosa	Colon
40	chr6:30824000-30824400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:30824000-30825200	Enhancers	GM12878-XiMat	blood
42	chr6:30824200-30825000	Enhancers	Fetal Brain Male	brain
43	chr6:30824200-30825400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:30824400-30826000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:30824400-30826200	Enhancers	Fetal Lung	lung
46	chr6:30824600-30825000	Bivalent Enhancer	HepG2	liver
47	chr6:30824600-30825200	Enhancers	Fetal Kidney	kidney
48	chr6:30824600-30825200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:30824600-30826000	Enhancers	Fetal Stomach	stomach
50	chr6:30824800-30825400	Enhancers	Pancreatic Islets	Pancreatic Islet

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