Variant report

Variant	esv12902
Chromosome Location	chr16:75532377-75533032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr16:75532694-75532709	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr16:75532894-75533082	SK-N-SH_RA	brain:	n/a	n/a
3	FOS	chr16:75533001-75533048	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr16:75532991-75533180	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr16:75532753-75533204	HepG2	liver:	n/a	n/a
6	JUND	chr16:75532884-75533174	HepG2	liver:	n/a	n/a
7	MYC	chr16:75532967-75533061	HepG2	liver:	n/a	n/a
8	MYC	chr16:75532943-75532959	HepG2	liver:	n/a	n/a
9	NFIC	chr16:75532871-75533142	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr16:75532913-75533118	SK-N-SH	brain:	n/a	n/a
11	NFIC	chr16:75532892-75533133	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr16:75532868-75533152	ECC-1	luminal epithelium:	n/a	n/a
13	PBX3	chr16:75532906-75533119	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr16:75532907-75533128	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr16:75532895-75533088	HCT-116	colon:	n/a	n/a
16	POLR2A	chr16:75532924-75533077	HCT-116	colon:	n/a	n/a
17	POLR2A	chr16:75532808-75532861	MCF-7	breast:	n/a	n/a
18	POLR2A	chr16:75532877-75532891	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr16:75532898-75533127	HepG2	liver:	n/a	n/a
20	USF1	chr16:75532940-75533138	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75532464-75532514	HepG2	liver:	n/a
2	chr16:75532464-75532514	HMEC	breast:	n/a
3	chr16:75532464-75532514	SK-N-SH_RA	brain:	n/a
4	chr16:75532464-75532514	SK-N-MC	brain:	n/a
5	chr16:75532464-75532514	Caco-2	colon:	n/a
6	chr16:75532464-75532514	ProgFib	skin:	n/a
7	chr16:75532464-75532514	IMR90	lung:	fetal
8	chr16:75532464-75532514	GM06990	blood:	n/a
9	chr16:75532464-75532514	AG04450	lung:	fetal
10	chr16:75532464-75532514	BJ	skin:	n/a
11	chr16:75532464-75532514	GM12892	blood:	n/a
12	chr16:75532464-75532514	HPAEpiC	pulmonary alveolar:	n/a
13	chr16:75532464-75532514	PFSK-1	brain:	n/a
14	chr16:75532464-75532514	GM12878	blood:	n/a
15	chr16:75532464-75532514	HRPEpiC	eye:	n/a
16	chr16:75532464-75532514	ovcar-3	ovarian:	n/a
17	chr16:75532464-75532514	PANC-1	pancreas:	n/a
18	chr16:75532464-75532514	GM19239	blood:	n/a
19	chr16:75532464-75532514	HRE	kidney:	n/a
20	chr16:75532464-75532514	AG09309	skin:	n/a
21	chr16:75532464-75532514	AG04449	skin:	fetal
22	chr16:75532464-75532514	NHBE	bronchial:	n/a
23	chr16:75532464-75532514	NH-A	brain:	n/a
24	chr16:75532464-75532514	BE2_C	brain:	n/a
25	chr16:75532464-75532514	AG10803	skin:	n/a
26	chr16:75532464-75532514	HL-60	blood:	n/a
27	chr16:75532464-75532514	SK-N-SH	brain:	n/a
28	chr16:75532464-75532514	Hepatocyte	liver:	n/a
29	chr16:75532464-75532514	CMK	blood:	n/a
30	chr16:75532464-75532514	Hela-S3	cervix:	n/a
31	chr16:75532464-75532514	HEEpiC	esophagus:	n/a
32	chr16:75532464-75532514	U87	brain:	n/a
33	chr16:75532464-75532514	RPTEC	kidney:	n/a
34	chr16:75532464-75532514	AG09319	gingival:	n/a
35	chr16:75532464-75532514	PrEC	prostate:	n/a
36	chr16:75532464-75532514	MCF10A-Er-Src	breast:	n/a
37	chr16:75532464-75532514	GM12891	blood:	n/a
38	chr16:75532464-75532514	NHDF-neo	bronchial:	n/a
39	chr16:75532464-75532514	K562	blood:	n/a
40	chr16:75532464-75532514	HIPEpiC	eye:	n/a
41	chr16:75532464-75532514	SAEC	small airway:	n/a
42	chr16:75532464-75532514	NT2-D1	testis:	n/a
43	chr16:75532464-75532514	H1-hESC	embryonic stem cell:	embryo
44	chr16:75532464-75532514	HRCEpiC	kidney:	n/a
45	chr16:75532464-75532514	Jurkat	blood:	n/a
46	chr16:75532464-75532514	HCM	heart:	n/a
47	chr16:75532464-75532514	ECC-1	luminal epithelium:	n/a
48	chr16:75532464-75532514	HUVEC	blood vessel:	n/a
49	chr16:75532464-75532514	T-47D	breast:	n/a
50	chr16:75532464-75532514	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75532625..75534527-chr16:75550172..75552396,2	MCF-7	breast:
2	chr16:75530551..75532986-chr16:75540003..75542944,2	K562	blood:

No data

Variant related genes	Relation type
CHST6	TF binding region
CHST6	CpG island
ENSG00000262583	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78607791	chr16:75532387-75532388	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs80283931	chr16:75532390-75532391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs79948062	chr16:75532406-75532407	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs78218880	chr16:75532412-75532413	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs139597255	chr16:75532438-75532439	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs572899577	chr16:75532444-75532445	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs386792188	chr16:75532463-75532464	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs77058246	chr16:75532465-75532466	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs186652961	chr16:75532479-75532480	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs73610805	chr16:75532484-75532485	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144262249	chr16:75532485-75532486	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs117393411	chr16:75532492-75532493	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs546909015	chr16:75532496-75532497	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs145255507	chr16:75532504-75532505	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs73610806	chr16:75532505-75532506	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs142298325	chr16:75532507-75532508	Weak transcription Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs151323947	chr16:75532527-75532528	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs368212419	chr16:75532559-75532560	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs111544150	chr16:75532564-75532565	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs76665898	chr16:75532583-75532584	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs79607853	chr16:75532585-75532586	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs458518	chr16:75532641-75532642	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs458517	chr16:75532644-75532645	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536523097	chr16:75532649-75532650	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372487659	chr16:75532675-75532676	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573210365	chr16:75532678-75532679	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544971087	chr16:75532695-75532696	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146947309	chr16:75532698-75532699	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575256435	chr16:75532725-75532726	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543974042	chr16:75532773-75532774	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561116562	chr16:75532802-75532803	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574707209	chr16:75532836-75532837	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs540458539	chr16:75532861-75532862	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560392027	chr16:75532905-75532906	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs385847	chr16:75532994-75532995	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
36	rs116974915	chr16:75532995-75532996	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs397832214	chr16:75533024-75533025	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 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
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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75529400-75533600	Weak transcription	Left Ventricle	heart
2	chr16:75529400-75535200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr16:75529400-75535600	Weak transcription	Brain Substantia Nigra	brain
4	chr16:75529400-75550000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:75529600-75533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:75529600-75535400	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:75529600-75541800	Weak transcription	Right Atrium	heart
8	chr16:75529800-75537800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr16:75529800-75550200	Weak transcription	Spleen	Spleen
10	chr16:75530000-75532400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr16:75530800-75533800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr16:75531200-75532800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:75531200-75532800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr16:75531200-75532800	Enhancers	Brain Hippocampus Middle	brain
15	chr16:75531400-75532800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:75531600-75532400	Enhancers	Fetal Muscle Leg	muscle
17	chr16:75531600-75532800	Enhancers	Fetal Heart	heart
18	chr16:75531800-75532400	Weak transcription	Hela-S3	cervix
19	chr16:75531800-75532600	Enhancers	Brain Anterior Caudate	brain
20	chr16:75531800-75532600	Enhancers	Stomach Smooth Muscle	stomach
21	chr16:75532000-75532600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr16:75532200-75532600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:75532200-75532600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:75532200-75532600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:75532200-75532600	Enhancers	Aorta	Aorta
26	chr16:75532200-75532600	Enhancers	Brain Cingulate Gyrus	brain
27	chr16:75532200-75532600	Enhancers	HSMM	muscle
28	chr16:75532200-75532800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:75532200-75532800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr16:75532200-75532800	Enhancers	Pancreas	Pancrea
31	chr16:75532200-75532800	Bivalent Enhancer	HepG2	liver
32	chr16:75532200-75533800	Enhancers	HMEC	breast
33	chr16:75532400-75532600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:75532400-75532600	Enhancers	Rectal Smooth Muscle	rectum
35	chr16:75532400-75532600	Enhancers	Hela-S3	cervix
36	chr16:75532400-75532600	Enhancers	HSMMtube	muscle
37	chr16:75532400-75532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:75532400-75532800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:75532400-75532800	Enhancers	Fetal Lung	lung
40	chr16:75532400-75532800	Enhancers	Fetal Muscle Trunk	muscle
41	chr16:75532400-75532800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr16:75532400-75535000	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:75532600-75532800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:75532600-75533600	Weak transcription	Aorta	Aorta
45	chr16:75532600-75535200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:75532600-75535400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:75532600-75535600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr16:75532600-75535600	Weak transcription	HSMMtube	muscle
49	chr16:75532600-75535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:75532600-75536400	Weak transcription	Hela-S3	cervix

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