Variant report

Variant	nsv827774
Chromosome Location	chr16:81170888-81177788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:352)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr16:81175001-81175341	K562	blood:	n/a	n/a
2	BACH1	chr16:81174746-81175382	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr16:81177298-81178299	HCT-116	colon:	n/a	n/a
4	CBX3	chr16:81177278-81178302	HCT-116	colon:	n/a	n/a
5	CBX3	chr16:81174969-81175313	K562	blood:	n/a	n/a
6	CEBPB	chr16:81177354-81178428	HCT-116	colon:	n/a	n/a
7	CEBPB	chr16:81177423-81178286	MCF-7	breast:	n/a	n/a
8	CEBPB	chr16:81177405-81178293	HCT-116	colon:	n/a	n/a
9	CEBPB	chr16:81172505-81172638	K562	blood:	n/a	n/a
10	CEBPB	chr16:81175032-81175221	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr16:81177444-81178184	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr16:81175038-81175238	HepG2	liver:	n/a	n/a
13	CEBPB	chr16:81177379-81178318	MCF-7	breast:	n/a	n/a
14	CHD2	chr16:81175179-81175253	K562	blood:	n/a	n/a
15	CHD2	chr16:81174697-81174833	HepG2	liver:	n/a	n/a
16	CREB1	chr16:81174880-81175333	A549	lung:	n/a	n/a
17	CTCF	chr16:81172918-81173026	K562	blood:	n/a	n/a
18	CTCF	chr16:81175100-81175250	GM12870	blood:	n/a	n/a
19	CTCF	chr16:81175150-81175262	GM10248	blood:	n/a	n/a
20	CTCF	chr16:81175080-81175230	HAc	cerebellar:	n/a	n/a
21	CTCF	chr16:81176580-81176730	NHEK	skin:	n/a	n/a
22	CTCF	chr16:81175180-81175330	GM12869	blood:	n/a	n/a
23	CTCF	chr16:81175080-81175230	HCM	heart:	n/a	n/a
24	CTCF	chr16:81175200-81175350	GM12864	blood:	n/a	n/a
25	CTCF	chr16:81175140-81175290	AG09309	skin:	n/a	n/a
26	CTCF	chr16:81172706-81173374	MCF-7	breast:	n/a	n/a
27	CTCF	chr16:81172880-81173030	MCF-7	breast:	n/a	n/a
28	CTCF	chr16:81172880-81173030	HCT-116	colon:	n/a	n/a
29	CTCF	chr16:81175000-81175347	HepG2	liver:	n/a	n/a
30	CTCF	chr16:81175080-81175230	RPTEC	kidney:	n/a	n/a
31	CTCF	chr16:81175120-81175270	GM12866	blood:	n/a	n/a
32	CTCF	chr16:81175120-81175270	GM12878	blood:	n/a	n/a
33	CTCF	chr16:81175122-81175322	GM12892	blood:	n/a	n/a
34	CTCF	chr16:81175080-81175230	GM12873	blood:	n/a	n/a
35	CTCF	chr16:81175080-81175230	AG09319	gingival:	n/a	n/a
36	CTCF	chr16:81175001-81175413	HepG2	liver:	n/a	n/a
37	CTCF	chr16:81175120-81175270	RPTEC	kidney:	n/a	n/a
38	CTCF	chr16:81175100-81175250	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr16:81174980-81175130	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr16:81176560-81176710	GM12870	blood:	n/a	n/a
41	CTCF	chr16:81172866-81173099	K562	blood:	n/a	n/a
42	CTCF	chr16:81175100-81175250	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr16:81175120-81175270	GM12873	blood:	n/a	n/a
44	CTCF	chr16:81175120-81175270	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr16:81175108-81175332	A549	lung:	n/a	n/a
46	CTCF	chr16:81175120-81175270	BJ	skin:	n/a	n/a
47	CTCF	chr16:81175100-81175250	GM12872	blood:	n/a	n/a
48	CTCF	chr16:81176660-81176810	HCT-116	colon:	n/a	n/a
49	CTCF	chr16:81175060-81175290	A549	lung:	n/a	n/a
50	CTCF	chr16:81175120-81175270	AoAF	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:81128511..81130849-chr16:81169835..81172966,4	MCF-7	breast:
2	chr16:81172576..81173403-chr16:81248138..81248840,3	MCF-7	breast:
3	chr16:81168888..81171592-chr16:81175504..81177098,2	MCF-7	breast:
4	chr16:81177178..81179005-chr16:81180841..81182912,2	MCF-7	breast:
5	chr16:71843029..71844532-chr16:81169189..81171698,2	MCF-7	breast:
6	chr16:81172499..81173473-chr16:81231950..81233302,5	MCF-7	breast:
7	chr16:81174893..81175517-chr16:81231737..81232731,3	MCF-7	breast:
8	chr16:81068581..81070765-chr16:81177689..81179201,2	MCF-7	breast:
9	chr16:81170203..81172478-chr16:81173151..81175133,2	MCF-7	breast:
10	chr16:81068953..81069797-chr16:81176232..81177093,2	K562	blood:
11	chr16:81177157..81179228-chr16:81223964..81225695,2	MCF-7	breast:
12	chr16:81176050..81179014-chr16:81206703..81209353,3	MCF-7	breast:

No data

Variant related genes	Relation type
PKD1L2	TF binding region
ENSG00000166454	chromatin interactions
ENSG00000140905	chromatin interactions
ENSG00000166747	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000166473	chromatin interactions

Extended variants
information (count: 501 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531933703	chr16:81170891-81170892	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs535224078	chr16:81170900-81170901	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs551527080	chr16:81170902-81170903	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143317993	chr16:81170943-81170944	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs556843847	chr16:81170955-81170956	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs575177943	chr16:81170959-81170960	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs73601258	chr16:81170978-81170979	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559996314	chr16:81170982-81170983	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs565261009	chr16:81170999-81171000	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs112636129	chr16:81171000-81171001	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs368738959	chr16:81171030-81171031	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs372179611	chr16:81171038-81171039	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs541537283	chr16:81171039-81171040	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs374393245	chr16:81171046-81171047	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs368458091	chr16:81171047-81171048	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs371879071	chr16:81171054-81171055	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs76478170	chr16:81171069-81171070	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs190293195	chr16:81171090-81171091	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs548791132	chr16:81171091-81171092	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs371765077	chr16:81171126-81171127	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs370082840	chr16:81171135-81171136	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs374468196	chr16:81171137-81171138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs192843090	chr16:81171175-81171176	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs551921928	chr16:81171189-81171190	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs116989354	chr16:81171191-81171192	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534292690	chr16:81171198-81171199	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs76104221	chr16:81171205-81171206	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs567774458	chr16:81171215-81171216	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs535304589	chr16:81171230-81171231	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs547533624	chr16:81171248-81171249	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs567540252	chr16:81171255-81171256	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs556733515	chr16:81171288-81171289	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs534097115	chr16:81171302-81171303	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs140270004	chr16:81171311-81171312	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs74030544	chr16:81171319-81171320	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12597420	chr16:81171330-81171331	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577172868	chr16:81171360-81171361	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs541025970	chr16:81171363-81171364	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs553546731	chr16:81171379-81171380	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs574983526	chr16:81171382-81171383	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs542472828	chr16:81171392-81171393	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs531447122	chr16:81171397-81171398	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs531095468	chr16:81171399-81171400	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs11150347	chr16:81171411-81171412	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145369655	chr16:81171419-81171420	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs569902763	chr16:81171451-81171452	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs60907774	chr16:81171475-81171476	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs567860275	chr16:81171499-81171500	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs528932223	chr16:81171525-81171526	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs113659679	chr16:81171563-81171564	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
4	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
5	chr16:81165800-81174800	Weak transcription	Spleen	Spleen
6	chr16:81167200-81181000	Enhancers	Placenta	Placenta
7	chr16:81168800-81174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:81169600-81171200	Enhancers	Fetal Brain Female	brain
9	chr16:81169600-81171600	Enhancers	Brain Germinal Matrix	brain
10	chr16:81169600-81171600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:81169600-81171800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr16:81169600-81171800	Enhancers	Fetal Brain Male	brain
13	chr16:81169600-81173400	Enhancers	Adipose Nuclei	Adipose
14	chr16:81169800-81171000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr16:81169800-81171000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:81169800-81171200	Enhancers	Fetal Muscle Leg	muscle
17	chr16:81169800-81171200	Enhancers	Ovary	ovary
18	chr16:81169800-81171400	Enhancers	Fetal Lung	lung
19	chr16:81169800-81171400	Enhancers	A549	lung
20	chr16:81169800-81171600	Enhancers	Fetal Stomach	stomach
21	chr16:81170000-81171200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:81170000-81171600	Enhancers	Fetal Muscle Trunk	muscle
23	chr16:81170000-81173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:81170000-81174600	Weak transcription	Esophagus	oesophagus
25	chr16:81170200-81171000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr16:81170200-81171000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:81170200-81171000	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr16:81170200-81171000	Enhancers	Colon Smooth Muscle	Colon
29	chr16:81170200-81171000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr16:81170200-81171200	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr16:81170200-81171200	Enhancers	HMEC	breast
32	chr16:81170200-81171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr16:81170400-81171000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:81170400-81171000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr16:81170400-81171200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:81170400-81171200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr16:81170600-81171000	Flanking Active TSS	HepG2	liver
38	chr16:81170600-81171200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:81170800-81171000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:81170800-81171000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:81170800-81171000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:81170800-81171000	Enhancers	Brain Cingulate Gyrus	brain
43	chr16:81170800-81171000	Enhancers	Fetal Kidney	kidney
44	chr16:81170800-81171000	Active TSS	Stomach Smooth Muscle	stomach
45	chr16:81170800-81171000	Enhancers	NHLF	lung
46	chr16:81170800-81171200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:81170800-81171400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:81170800-81171400	Enhancers	Brain Anterior Caudate	brain
49	chr16:81170800-81171600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:81170800-81171600	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links