Variant report

Variant	nsv528229
Chromosome Location	chr16:71331728-71358937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:71350193-71350355	K562	blood:	n/a	n/a
2	ARID3A	chr16:71350132-71350326	HepG2	liver:	n/a	n/a
3	CTCF	chr16:71345660-71345810	Hela-S3	cervix:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
4	CTCF	chr16:71345580-71345730	SAEC	small airway:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
5	CTCF	chr16:71345586-71345789	SK-N-SH_RA	brain:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
6	CTCF	chr16:71345640-71345790	BE2_C	brain:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
7	CTCF	chr16:71345567-71345840	LNCaP	prostate:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
8	CTCF	chr16:71345600-71345750	GM06990	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
9	CTCF	chr16:71345600-71345750	GM12872	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
10	CTCF	chr16:71345640-71345790	GM12872	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
11	CTCF	chr16:71345220-71345370	SK-N-SH_RA	brain:	n/a	chr16:71345237-71345246
12	CTCF	chr16:71345560-71345710	BJ	skin:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
13	CTCF	chr16:71345640-71345790	SK-N-SH_RA	brain:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
14	CTCF	chr16:71345536-71345850	ProgFib	skin:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
15	CTCF	chr16:71345800-71345950	GM12867	blood:	n/a	n/a
16	CTCF	chr16:71345640-71345790	GM12868	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
17	CTCF	chr16:71345582-71345822	Pancreas_OC	pancreas:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
18	CTCF	chr16:71345620-71345770	K562	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
19	CTCF	chr16:71345620-71345770	MCF-7	breast:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
20	CTCF	chr16:71345480-71345630	GM12869	blood:	n/a	n/a
21	CTCF	chr16:71345559-71345818	A549	lung:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
22	CTCF	chr16:71344918-71346001	A549	lung:	n/a	chr16:71345687-71345700 chr16:71345237-71345246 chr16:71345680-71345701 chr16:71345685-71345703
23	CTCF	chr16:71345534-71345824	HepG2	liver:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
24	CTCF	chr16:71345620-71345770	AG09309	skin:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
25	CTCF	chr16:71345620-71345770	AoAF	blood vessel:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
26	CTCF	chr16:71345373-71345913	IMR90	lung:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
27	CTCF	chr16:71345560-71345710	GM12866	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
28	CTCF	chr16:71345539-71345836	HUVEC	blood vessel:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
29	CTCF	chr16:71345416-71345979	MCF-7	breast:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
30	CTCF	chr16:71345660-71345810	HCT-116	colon:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
31	CTCF	chr16:71345015-71346112	SK-N-SH	brain:	n/a	chr16:71345687-71345700 chr16:71345237-71345246 chr16:71345680-71345701 chr16:71345685-71345703
32	CTCF	chr16:71345600-71345750	Hela-S3	cervix:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
33	CTCF	chr16:71345620-71345770	HepG2	liver:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
34	CTCF	chr16:71345640-71345790	AG09319	gingival:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
35	CTCF	chr16:71345620-71345770	RPTEC	kidney:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
36	CTCF	chr16:71345620-71345770	HPF	lung:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
37	CTCF	chr16:71345580-71345730	GM12867	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
38	CTCF	chr16:71345120-71345270	BE2_C	brain:	n/a	chr16:71345237-71345246
39	CTCF	chr16:71345620-71345770	HMEC	breast:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
40	CTCF	chr16:71345600-71345750	HL-60	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
41	CTCF	chr16:71345560-71345782	A549	lung:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
42	CTCF	chr16:71345620-71345770	GM12875	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
43	CTCF	chr16:71345600-71345750	HPF	lung:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
44	CTCF	chr16:71345640-71345790	HBMEC	blood vessel:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
45	CTCF	chr16:71345640-71345790	NHEK	skin:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
46	CTCF	chr16:71345381-71345476	GM13976	blood:	n/a	n/a
47	CTCF	chr16:71345600-71345750	AG09319	gingival:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
48	CTCF	chr16:71345526-71345842	K562	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
49	CTCF	chr16:71345477-71345897	H1-hESC	embryonic stem cell:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703
50	CTCF	chr16:71345482-71345919	K562	blood:	n/a	chr16:71345687-71345700 chr16:71345680-71345701 chr16:71345685-71345703

No.	Distal block	Cell Line	Cell type
1	chr16:71345947..71348387-chr16:71395084..71396780,2	MCF-7	breast:
2	chr16:71322592..71324280-chr16:71331541..71333496,2	MCF-7	breast:
3	chr16:71322082..71324513-chr16:71342713..71345948,3	MCF-7	breast:
4	chr16:71248492..71249558-chr16:71344873..71345896,5	MCF-7	breast:
5	chr16:71033432..71034748-chr16:71345163..71346194,8	MCF-7	breast:
6	chr16:71034869..71035905-chr16:71345260..71345928,3	MCF-7	breast:
7	chr16:71329803..71331384-chr16:71332650..71335143,3	K562	blood:
8	chr16:71347498..71350469-chr16:71383998..71385820,2	K562	blood:
9	chr16:71313476..71316261-chr16:71330808..71332669,2	MCF-7	breast:
10	chr16:71321443..71323211-chr16:71358111..71360387,2	K562	blood:
11	chr16:71345865..71348331-chr16:71390071..71392582,2	MCF-7	breast:
12	chr16:71250267..71251239-chr16:71344784..71345862,3	MCF-7	breast:
13	chr16:71112032..71113986-chr16:71329275..71331950,2	K562	blood:
14	chr16:71033431..71034148-chr16:71345247..71345906,2	MCF-7	breast:
15	chr13:66358245..66360880-chr16:71346372..71347872,2	MCF-7	breast:
16	chr16:71321458..71323211-chr16:71358349..71360387,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALB2-2	chr16:71335486-71335698	NONHSAT143461
2	lnc-CALB2-2	chr16:71335486-71335698	ENSG00000261260.1
3	lnc-CALB2-2	chr16:71336552-71336753	NONHSAT143461
4	lnc-CALB2-2	chr16:71336552-71336772	ENSG00000261260.1
5	lnc-CALB2-2	chr16:71343738-71343799	NONHSAT143460
6	lnc-CALB2-2	chr16:71336552-71336669	NONHSAT143460
7	lnc-CALB2-2	chr16:71335486-71335698	NONHSAT143460

Variant related genes	Relation type
ENSG00000261260	TF binding region
ENSG00000180917	chromatin interactions

Extended variants
information (count: 349 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4570853	chr16:71331728-71331729	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534654343	chr16:71331732-71331733	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553220939	chr16:71331781-71331782	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185345544	chr16:71331822-71331823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79404570	chr16:71331823-71331824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs151335466	chr16:71331827-71331828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189504092	chr16:71331856-71331857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556050840	chr16:71331901-71331902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs16971009	chr16:71331934-71331935	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs181505437	chr16:71331939-71331940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574573743	chr16:71331947-71331948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76529286	chr16:71331957-71331958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62054990	chr16:71331977-71331978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73586052	chr16:71332008-71332009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541395495	chr16:71332012-71332013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11865544	chr16:71332024-71332025	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576727615	chr16:71332064-71332065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139419714	chr16:71332094-71332095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149659479	chr16:71332120-71332121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551363426	chr16:71332123-71332124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs16971012	chr16:71332135-71332136	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187994324	chr16:71332150-71332151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73586054	chr16:71332168-71332169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549055900	chr16:71332196-71332197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149656798	chr16:71332201-71332202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs72795745	chr16:71332202-71332203	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546604005	chr16:71332203-71332204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs117041500	chr16:71332216-71332217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76926036	chr16:71332220-71332221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79892381	chr16:71332221-71332222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs57538109	chr16:71332223-71332224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571178095	chr16:71332244-71332245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539462613	chr16:71332259-71332260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557689812	chr16:71332263-71332264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374596956	chr16:71332276-71332277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs180854416	chr16:71332313-71332314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555816624	chr16:71332314-71332315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10083751	chr16:71332351-71332352	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541587044	chr16:71332357-71332358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111362077	chr16:71332358-71332359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs578240454	chr16:71332442-71332443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545028824	chr16:71332449-71332450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145388820	chr16:71332478-71332479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530506943	chr16:71332503-71332504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370952332	chr16:71332542-71332543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186146710	chr16:71332564-71332565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528295320	chr16:71332581-71332582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79608464	chr16:71332588-71332589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571216850	chr16:71332618-71332619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538499707	chr16:71332632-71332633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71330000-71331800	Enhancers	HepG2	liver
2	chr16:71337800-71338400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:71338000-71338400	Enhancers	HMEC	breast
4	chr16:71345200-71345600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:71345200-71345600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr16:71345200-71345600	Enhancers	Brain Germinal Matrix	brain
7	chr16:71345200-71345800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:71345200-71346000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr16:71345400-71346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr16:71345400-71346000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:71345400-71346000	Enhancers	Fetal Brain Female	brain
12	chr16:71345600-71346800	Enhancers	HMEC	breast
13	chr16:71345800-71346000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr16:71345800-71346000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:71345800-71346600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:71346200-71346800	Enhancers	NHEK	skin
17	chr16:71348200-71348600	Enhancers	HepG2	liver
18	chr16:71352200-71352400	Enhancers	Brain Germinal Matrix	brain

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