Variant report

Variant	esv2752604
Chromosome Location	chr16:81595597-81606569
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
2	chr16:81592452..81594789-chr16:81596434..81599247,2	K562	blood:
3	chr16:81598717..81601651-chr16:81602868..81605781,2	K562	blood:
4	chr16:81486896..81488783-chr16:81605459..81607539,2	K562	blood:
5	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:
6	chr16:81598717..81601651-chr16:81602868..81605781,2	K562	blood:
7	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:
8	chr16:81501153..81503002-chr16:81601427..81603985,2	K562	blood:
9	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
10	chr16:81599256..81602188-chr16:81606327..81608500,2	MCF-7	breast:
11	chr16:81578943..81580979-chr16:81604433..81607387,2	K562	blood:
12	chr16:81512213..81514076-chr16:81604304..81607138,2	MCF-7	breast:
13	chr16:81597424..81600229-chr16:81641597..81643901,2	K562	blood:
14	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:
15	chr16:81599256..81602188-chr16:81606327..81608500,2	MCF-7	breast:
16	chr16:81600677..81603897-chr16:81613066..81616910,4	MCF-7	breast:
17	chr16:81585781..81588255-chr16:81593534..81595879,2	MCF-7	breast:
18	chr16:81601841..81604021-chr16:81605526..81607145,2	MCF-7	breast:
19	chr16:81586835..81588438-chr16:81601236..81603502,2	MCF-7	breast:
20	chr16:81477018..81482401-chr16:81598968..81605345,9	MCF-7	breast:
21	chr16:81601841..81604021-chr16:81605526..81607145,2	MCF-7	breast:
22	chr16:81595733..81597797-chr16:81598756..81601475,2	MCF-7	breast:
23	chr16:81595297..81597830-chr16:81598340..81600112,2	K562	blood:
24	chr16:81595733..81597797-chr16:81598756..81601475,2	MCF-7	breast:
25	chr16:81595297..81597830-chr16:81598340..81600112,2	K562	blood:
26	chr16:81605768..81607461-chr16:81629171..81631126,2	K562	blood:
27	chr16:81602073..81603967-chr16:81621534..81623080,2	K562	blood:
28	chr16:81598717..81600767-chr16:81602624..81604368,2	K562	blood:
29	chr16:81588981..81591271-chr16:81595780..81598756,2	K562	blood:
30	chr16:81602506..81605471-chr16:81607457..81609073,2	K562	blood:
31	chr16:81602634..81605385-chr16:81607710..81610701,3	MCF-7	breast:
32	chr16:81578640..81580177-chr16:81596522..81598545,2	MCF-7	breast:
33	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
34	chr16:81602466..81604147-chr16:81604965..81607517,2	MCF-7	breast:
35	chr16:81598717..81600767-chr16:81602624..81604368,2	K562	blood:
36	chr16:81602466..81604147-chr16:81604965..81607517,2	MCF-7	breast:
37	chr16:81572606..81575299-chr16:81599746..81602718,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153815	chromatin interactions

Extended variants
information (count: 620 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12925699	chr16:81595597-81595598	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191383217	chr16:81595598-81595599	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573926596	chr16:81595621-81595622	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76658794	chr16:81595640-81595641	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563001954	chr16:81595650-81595651	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533440991	chr16:81595678-81595679	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545224056	chr16:81595707-81595708	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181468956	chr16:81595759-81595760	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148587355	chr16:81595762-81595763	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11646595	chr16:81595776-81595777	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548638919	chr16:81595829-81595830	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564593687	chr16:81595877-81595878	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567256171	chr16:81595879-81595880	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142903472	chr16:81595918-81595919	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150671641	chr16:81595948-81595949	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571499233	chr16:81595952-81595953	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538915201	chr16:81596007-81596008	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554044500	chr16:81596114-81596115	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565847938	chr16:81596123-81596124	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115796086	chr16:81596184-81596185	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555533554	chr16:81596230-81596231	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573990806	chr16:81596237-81596238	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527395245	chr16:81596275-81596276	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73596453	chr16:81596280-81596281	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556496971	chr16:81596294-81596295	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577949479	chr16:81596311-81596312	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546954139	chr16:81596318-81596319	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556517838	chr16:81596319-81596320	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185566893	chr16:81596321-81596322	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560334632	chr16:81596323-81596324	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572259456	chr16:81596329-81596330	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542715537	chr16:81596334-81596335	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2966121	chr16:81596370-81596371	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531434100	chr16:81596378-81596379	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112727631	chr16:81596386-81596387	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189984187	chr16:81596392-81596393	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199858867	chr16:81596394-81596395	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564882691	chr16:81596395-81596396	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143670793	chr16:81596402-81596403	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547689226	chr16:81596419-81596420	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2966120	chr16:81596444-81596445	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569428957	chr16:81596446-81596447	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182183026	chr16:81596461-81596462	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531765376	chr16:81596490-81596491	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552013134	chr16:81596515-81596516	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547704546	chr16:81596534-81596535	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548358344	chr16:81596537-81596538	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73596456	chr16:81596538-81596539	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538319668	chr16:81596585-81596586	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556295231	chr16:81596586-81596587	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81580200-81597600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
3	chr16:81585200-81602000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
5	chr16:81586000-81601400	Weak transcription	Fetal Thymus	thymus
6	chr16:81587000-81596600	Weak transcription	Brain Angular Gyrus	brain
7	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:81587400-81597200	Weak transcription	Fetal Brain Female	brain
9	chr16:81588000-81601600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:81588200-81596600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:81588200-81600600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr16:81589200-81598800	Weak transcription	Thymus	Thymus
14	chr16:81589200-81601800	Weak transcription	Left Ventricle	heart
15	chr16:81589400-81598800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:81589800-81595800	Weak transcription	Fetal Stomach	stomach
17	chr16:81590000-81597600	Genic enhancers	HepG2	liver
18	chr16:81590600-81595600	Enhancers	Fetal Intestine Large	intestine
19	chr16:81590600-81602000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:81592200-81595600	Enhancers	Stomach Mucosa	stomach
21	chr16:81592200-81599000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr16:81592200-81599400	Weak transcription	Primary T cells from cord blood	blood
23	chr16:81592400-81595600	Weak transcription	Right Atrium	heart
24	chr16:81592400-81595600	Weak transcription	Right Ventricle	heart
25	chr16:81592400-81596800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:81592400-81601800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:81592600-81595800	Weak transcription	Esophagus	oesophagus
28	chr16:81592600-81597000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:81592600-81597400	Weak transcription	Fetal Brain Male	brain
30	chr16:81592600-81598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:81592800-81595600	Weak transcription	Ovary	ovary
32	chr16:81592800-81595800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr16:81592800-81597000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:81593000-81596000	Weak transcription	Fetal Muscle Leg	muscle
35	chr16:81593000-81597200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:81593000-81597200	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:81593000-81600000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr16:81593000-81601200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:81593200-81595600	Weak transcription	Brain Substantia Nigra	brain
40	chr16:81593200-81596000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:81593200-81597200	Weak transcription	Brain Anterior Caudate	brain
42	chr16:81593200-81597200	Weak transcription	Brain Germinal Matrix	brain
43	chr16:81593200-81597200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:81593200-81597400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr16:81593200-81598800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr16:81593200-81601200	Weak transcription	Colonic Mucosa	Colon
47	chr16:81593200-81601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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