Variant report

Variant	nsv1860
Chromosome Location	chr16:71269156-71313852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:71310646-71311014	K562	blood:	n/a	n/a
2	ATF1	chr16:71310647-71311064	K562	blood:	n/a	n/a
3	CEBPB	chr16:71270600-71270784	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr16:71270508-71270836	A549	lung:	n/a	n/a
5	CEBPB	chr16:71270486-71270860	MCF-7	breast:	n/a	n/a
6	CEBPB	chr16:71278977-71279275	HepG2	liver:	n/a	chr16:71279097-71279106 chr16:71279097-71279108 chr16:71279095-71279106
7	CEBPB	chr16:71297052-71297254	HepG2	liver:	n/a	chr16:71297131-71297142
8	CEBPB	chr16:71279035-71279235	K562	blood:	n/a	chr16:71279097-71279106 chr16:71279097-71279108 chr16:71279095-71279106
9	CEBPB	chr16:71284764-71285086	MCF-7	breast:	n/a	chr16:71284954-71284967 chr16:71284929-71284938
10	CEBPB	chr16:71281481-71281545	HepG2	liver:	n/a	n/a
11	CEBPB	chr16:71270492-71270823	HepG2	liver:	n/a	n/a
12	CEBPB	chr16:71297068-71297239	A549	lung:	n/a	chr16:71297131-71297142
13	CEBPB	chr16:71279033-71279190	H1-hESC	embryonic stem cell:	n/a	chr16:71279097-71279106 chr16:71279097-71279108 chr16:71279095-71279106
14	CEBPB	chr16:71270587-71270782	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr16:71278986-71279234	A549	lung:	n/a	chr16:71279097-71279106 chr16:71279097-71279108 chr16:71279095-71279106
16	CEBPB	chr16:71296985-71297222	IMR90	lung:	n/a	chr16:71297131-71297142
17	CEBPB	chr16:71270475-71270804	K562	blood:	n/a	n/a
18	CEBPB	chr16:71279005-71279240	IMR90	lung:	n/a	chr16:71279097-71279106 chr16:71279097-71279108 chr16:71279095-71279106
19	CEBPB	chr16:71284766-71285119	Hela-S3	cervix:	n/a	chr16:71284954-71284967 chr16:71284929-71284938
20	CEBPB	chr16:71281504-71281518	A549	lung:	n/a	n/a
21	CTCF	chr16:71283340-71283490	SAEC	small airway:	n/a	n/a
22	CTCF	chr16:71283320-71283470	GM12865	blood:	n/a	n/a
23	CTCF	chr16:71283421-71283475	IMR90	lung:	n/a	n/a
24	CTCF	chr16:71311100-71311250	GM12875	blood:	n/a	n/a
25	CTCF	chr16:71283205-71283632	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr16:71283380-71283530	GM12872	blood:	n/a	n/a
27	CTCF	chr16:71283328-71283660	K562	blood:	n/a	n/a
28	CTCF	chr16:71283364-71283553	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr16:71283377-71283533	GM12878	blood:	n/a	n/a
30	CTCF	chr16:71283311-71283623	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr16:71301240-71301390	WI-38	lung:	n/a	n/a
32	CTCF	chr16:71283380-71283530	HCT-116	colon:	n/a	n/a
33	CTCF	chr16:71283380-71283530	BE2_C	brain:	n/a	n/a
34	CTCF	chr16:71283400-71283550	GM12873	blood:	n/a	n/a
35	CTCF	chr16:71283393-71283511	GM19239	blood:	n/a	n/a
36	CTCF	chr16:71283340-71283490	MCF-7	breast:	n/a	n/a
37	CTCF	chr16:71284540-71284690	NHEK	skin:	n/a	n/a
38	CTCF	chr16:71284560-71284710	HMEC	breast:	n/a	n/a
39	CTCF	chr16:71283293-71283629	K562	blood:	n/a	n/a
40	CTCF	chr16:71283324-71283524	GM12878	blood:	n/a	n/a
41	CTCF	chr16:71283385-71283521	GM19240	blood:	n/a	n/a
42	CTCF	chr16:71283412-71283519	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr16:71283340-71283490	HEK293	kidney:	n/a	n/a
44	CTCF	chr16:71283360-71283510	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr16:71283404-71283507	GM12891	blood:	n/a	n/a
46	CTCF	chr16:71283380-71283530	K562	blood:	n/a	n/a
47	CTCF	chr16:71283380-71283530	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr16:71283357-71283564	K562	blood:	n/a	n/a
49	CTCF	chr16:71283411-71283476	MCF-7	breast:	n/a	n/a
50	CTCF	chr16:71283329-71283625	K562	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71305639..71308401-chr16:71308701..71310284,2	K562	blood:
2	chr16:71298303..71300474-chr16:71322887..71324390,2	MCF-7	breast:
3	chr16:71273768..71276073-chr16:71277133..71279067,2	K562	blood:
4	chr16:71310012..71312355-chr16:71312947..71314691,2	K562	blood:
5	chr16:71313476..71316261-chr16:71330808..71332669,2	MCF-7	breast:
6	chr16:71280430..71283046-chr16:71320319..71323747,3	MCF-7	breast:
7	chr16:71274627..71276994-chr20:52214736..52216358,2	MCF-7	breast:
8	chr16:71310012..71312355-chr16:71312947..71314691,2	K562	blood:
9	chr16:71284023..71286364-chr16:71292179..71294097,2	MCF-7	breast:
10	chr16:71298409..71299917-chr16:71325907..71328293,2	K562	blood:
11	chr16:71284904..71287123-chr16:71289658..71291171,2	MCF-7	breast:
12	chr16:71310986..71313329-chr16:71316172..71318464,3	MCF-7	breast:
13	chr16:71287182..71289773-chr16:71380797..71383659,2	MCF-7	breast:
14	chr16:71309310..71311859-chr16:71312169..71314313,2	MCF-7	breast:
15	chr16:71273411..71275916-chr16:71278991..71281873,2	MCF-7	breast:
16	chr16:71284023..71286364-chr16:71292179..71294097,2	MCF-7	breast:
17	chr16:71313544..71318343-chr16:71321289..71325664,12	K562	blood:
18	chr16:71288537..71290996-chr16:71299715..71301664,2	MCF-7	breast:
19	chr16:71273768..71276073-chr16:71277133..71279067,2	K562	blood:
20	chr16:71305639..71308401-chr16:71308701..71310284,2	K562	blood:
21	chr16:71309531..71313342-chr16:71321212..71325576,7	K562	blood:
22	chr16:71284904..71287123-chr16:71289658..71291171,2	MCF-7	breast:
23	chr16:71295134..71297255-chr16:71312109..71314891,2	K562	blood:
24	chr16:71274750..71277608-chr16:71280873..71283988,3	MCF-7	breast:
25	chr16:71295134..71297255-chr16:71312109..71314891,2	K562	blood:
26	chr16:71278397..71280153-chr16:71321569..71323514,2	MCF-7	breast:
27	chr16:71273411..71275916-chr16:71278991..71281873,2	MCF-7	breast:
28	chr16:71288537..71290996-chr16:71299715..71301664,2	MCF-7	breast:
29	chr16:71309310..71311859-chr16:71312169..71314313,2	MCF-7	breast:
30	chr16:71274750..71277608-chr16:71280873..71283988,3	MCF-7	breast:

No data

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

Extended variants
information (count: 1439 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1439 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75247691	chr16:71269208-71269209	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs544650627	chr16:71269269-71269270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185215231	chr16:71269292-71269293	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576753000	chr16:71269332-71269333	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs551628785	chr16:71269359-71269360	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs544241263	chr16:71269375-71269376	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs562469431	chr16:71269376-71269377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529772771	chr16:71269385-71269386	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548328069	chr16:71269391-71269392	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370516115	chr16:71269444-71269445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527515602	chr16:71269456-71269457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376148911	chr16:71269457-71269458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144865903	chr16:71269458-71269459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570775042	chr16:71269464-71269465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537756856	chr16:71269518-71269519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148191161	chr16:71269545-71269546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370781347	chr16:71269614-71269615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527624858	chr16:71269616-71269617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536316156	chr16:71269642-71269643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554670387	chr16:71269688-71269689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61061943	chr16:71269734-71269735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188478689	chr16:71269758-71269759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191656926	chr16:71269773-71269774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374445912	chr16:71269831-71269832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577420262	chr16:71269866-71269867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183846034	chr16:71269891-71269892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562441154	chr16:71269943-71269944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574513881	chr16:71269945-71269946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188571165	chr16:71269987-71269988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567506875	chr16:71270026-71270027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373892431	chr16:71270028-71270029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527493956	chr16:71270030-71270031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545939132	chr16:71270063-71270064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180745638	chr16:71270203-71270204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75102964	chr16:71270247-71270248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398100272	chr16:71270257-71270258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531601142	chr16:71270258-71270259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549683812	chr16:71270349-71270350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142717005	chr16:71270366-71270367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184418994	chr16:71270367-71270368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548265490	chr16:71270396-71270397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374451394	chr16:71270472-71270473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567000933	chr16:71270509-71270510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190578120	chr16:71270571-71270572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559065827	chr16:71270601-71270602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570972247	chr16:71270618-71270619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562859606	chr16:71270622-71270623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538519158	chr16:71270623-71270624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28479930	chr16:71270659-71270660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147373509	chr16:71270739-71270740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71265000-71271000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:71275800-71277800	Enhancers	Fetal Intestine Large	intestine
3	chr16:71275800-71277800	Enhancers	Fetal Intestine Small	intestine
4	chr16:71276200-71277000	Enhancers	Duodenum Mucosa	Duodenum
5	chr16:71276400-71276800	Enhancers	HepG2	liver
6	chr16:71276400-71277200	Enhancers	Stomach Mucosa	stomach
7	chr16:71276600-71276800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr16:71277000-71278600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr16:71277600-71279800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:71277600-71283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr16:71278600-71279000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr16:71279000-71283400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr16:71279200-71279400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:71279200-71279600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:71279400-71279600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr16:71279400-71289000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:71279600-71288800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr16:71279800-71284200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:71283000-71283200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr16:71283000-71283400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:71283000-71283600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr16:71283200-71283400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:71283200-71283400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr16:71283200-71283400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:71283200-71285000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr16:71283400-71284800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:71283400-71285200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr16:71283600-71283800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr16:71283600-71288800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr16:71283800-71288800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr16:71283800-71289000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr16:71284200-71285600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:71284400-71285600	Enhancers	Placenta	Placenta
34	chr16:71284600-71284800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr16:71284600-71285800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:71284800-71285000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:71284800-71285000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr16:71284800-71285400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr16:71284800-71285600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:71284800-71288600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:71285000-71285600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr16:71285000-71288600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:71285000-71289000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:71285200-71285600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr16:71285200-71285800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:71285200-71288400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr16:71285200-71288600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:71285400-71288600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr16:71285400-71289200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr16:71285600-71286000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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