Variant report

Variant	esv3395308
Chromosome Location	chr16:81297151-81301649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:81292493..81305608-chr16:81343220..81354506,32	MCF-7	breast:
2	chr16:81295184..81306354-chr16:81346133..81353360,18	MCF-7	breast:
3	chr16:81298425..81302121-chr16:81361527..81366002,4	MCF-7	breast:
4	chr16:81296161..81297807-chr16:81309739..81311383,2	MCF-7	breast:
5	chr16:81298705..81303185-chr16:81306285..81312157,8	MCF-7	breast:
6	chr16:81297837..81303804-chr16:81307756..81314186,17	MCF-7	breast:
7	chr16:81295781..81298709-chr16:81310944..81313226,2	K562	blood:
8	chr16:81299078..81302061-chr16:81436306..81439143,2	MCF-7	breast:
9	chr16:81295681..81298455-chr16:81299026..81301212,3	MCF-7	breast:
10	chr16:81299252..81302248-chr16:81302425..81304066,2	MCF-7	breast:
11	chr16:81299764..81301490-chr16:81383537..81384858,4	MCF-7	breast:
12	chr16:81300810..81303318-chr16:81304839..81306910,2	MCF-7	breast:
13	chr16:81296710..81297703-chr16:81399610..81400759,4	MCF-7	breast:
14	chr16:81299744..81301452-chr16:81327574..81330575,3	MCF-7	breast:
15	chr16:81296034..81297769-chr16:81383460..81384575,13	MCF-7	breast:
16	chr16:81299915..81302121-chr16:81315991..81317511,2	MCF-7	breast:
17	chr16:81295681..81298455-chr16:81299026..81301212,3	MCF-7	breast:
18	chr16:81041195..81043278-chr16:81298968..81300787,2	MCF-7	breast:
19	chr16:81297782..81301485-chr16:81326515..81330018,4	MCF-7	breast:
20	chr16:81296996..81300713-chr16:81369954..81373640,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261609	chromatin interactions
ENSG00000260495	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574494530	chr16:81297153-81297154	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533461867	chr16:81297200-81297201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551613821	chr16:81297292-81297293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543271097	chr16:81297364-81297365	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145983780	chr16:81297390-81297391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549240568	chr16:81297435-81297436	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs77427775	chr16:81297442-81297443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186690717	chr16:81297443-81297444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375255315	chr16:81297462-81297463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148606211	chr16:81297469-81297470	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112387369	chr16:81297507-81297508	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs59451227	chr16:81297514-81297515	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553600374	chr16:81297520-81297521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192299684	chr16:81297547-81297548	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542645231	chr16:81297548-81297549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185792614	chr16:81297563-81297564	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs151317944	chr16:81297576-81297577	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543396895	chr16:81297609-81297610	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565070946	chr16:81297619-81297620	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532242754	chr16:81297620-81297621	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140626783	chr16:81297626-81297627	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528143288	chr16:81297637-81297638	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs188711937	chr16:81297676-81297677	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs527632721	chr16:81297690-81297691	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs72833317	chr16:81297696-81297697	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12923433	chr16:81297702-81297703	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538146553	chr16:81297796-81297797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145507662	chr16:81297810-81297811	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147716492	chr16:81297875-81297876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs550486545	chr16:81297884-81297885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538883096	chr16:81297924-81297925	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs111256460	chr16:81297945-81297946	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs193218946	chr16:81297946-81297947	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs142583720	chr16:81297970-81297971	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536390424	chr16:81297995-81297996	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184608313	chr16:81298014-81298015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570410117	chr16:81298017-81298018	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs67054945	chr16:81298033-81298034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543687844	chr16:81298044-81298045	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367831118	chr16:81298052-81298053	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188873529	chr16:81298062-81298063	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576943556	chr16:81298072-81298073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540874481	chr16:81298106-81298107	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs146504199	chr16:81298107-81298108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138838676	chr16:81298136-81298137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs369214670	chr16:81298145-81298146	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549113902	chr16:81298147-81298148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552460042	chr16:81298187-81298188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201220518	chr16:81298205-81298206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566283561	chr16:81298206-81298207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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
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

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81273600-81299400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr16:81284600-81324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:81286600-81297400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr16:81286600-81297600	Weak transcription	Ovary	ovary
5	chr16:81295200-81299200	Weak transcription	Stomach Mucosa	stomach
6	chr16:81296200-81299800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:81297000-81298600	Enhancers	Fetal Stomach	stomach
8	chr16:81297000-81298600	Enhancers	Rectal Smooth Muscle	rectum
9	chr16:81297000-81299400	Enhancers	Colon Smooth Muscle	Colon
10	chr16:81297000-81300400	Enhancers	Fetal Lung	lung
11	chr16:81297200-81298000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:81297200-81298000	Enhancers	Adipose Nuclei	Adipose
13	chr16:81297200-81298200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:81297200-81298200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:81297200-81298400	Enhancers	Fetal Muscle Leg	muscle
16	chr16:81297400-81297800	Enhancers	Osteobl	bone
17	chr16:81297400-81298400	Enhancers	Brain Hippocampus Middle	brain
18	chr16:81297400-81298600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr16:81297400-81299600	Enhancers	Stomach Smooth Muscle	stomach
20	chr16:81297600-81297800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:81297600-81297800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr16:81297600-81298000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:81297600-81298000	Enhancers	Brain Angular Gyrus	brain
24	chr16:81297600-81298000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:81297600-81300600	Enhancers	Ovary	ovary
26	chr16:81297800-81298000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:81297800-81298000	Enhancers	Brain Anterior Caudate	brain
28	chr16:81297800-81298000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:81297800-81298000	Enhancers	Left Ventricle	heart
30	chr16:81297800-81298000	Enhancers	Right Ventricle	heart
31	chr16:81297800-81298200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr16:81297800-81298200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr16:81297800-81298400	Enhancers	Fetal Kidney	kidney
34	chr16:81297800-81299600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:81297800-81299600	Weak transcription	Osteobl	bone
36	chr16:81298000-81298400	Enhancers	Fetal Intestine Small	intestine
37	chr16:81298000-81298600	Weak transcription	Right Ventricle	heart
38	chr16:81298000-81299400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:81298000-81299400	Weak transcription	Adipose Nuclei	Adipose
40	chr16:81298200-81299200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:81298200-81299200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:81298200-81299200	Weak transcription	Left Ventricle	heart
43	chr16:81298200-81299400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:81298200-81299400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:81298200-81299400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:81298200-81299400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr16:81298400-81299400	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:81298400-81299400	Weak transcription	Fetal Kidney	kidney
49	chr16:81298400-81299600	Weak transcription	Fetal Intestine Small	intestine
50	chr16:81298400-81299800	Weak transcription	Fetal Muscle Leg	muscle

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