Variant report

Variant	esv1008090
Chromosome Location	chr12:83167353-83212805
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83080290..83082934-chr12:83176093..83178642,2	MCF-7	breast:
2	chr12:83079969..83082469-chr12:83197012..83198643,2	MCF-7	breast:
3	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
4	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
5	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
6	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
7	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
8	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
9	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
10	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
11	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:
12	chr12:83149723..83152212-chr12:83167569..83170218,2	MCF-7	breast:
13	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
14	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 1694 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1694 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555737532	chr12:83167356-83167357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187554000	chr12:83167362-83167363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560697274	chr12:83167367-83167368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531368602	chr12:83167399-83167400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138201824	chr12:83167423-83167424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571929347	chr12:83167532-83167533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10082947	chr12:83167548-83167549	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192607299	chr12:83167556-83167557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566319878	chr12:83167558-83167559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144225340	chr12:83167623-83167624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556894742	chr12:83167624-83167625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184775599	chr12:83167726-83167727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75429138	chr12:83167763-83167764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537469841	chr12:83167764-83167765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77043031	chr12:83167766-83167767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112931569	chr12:83167816-83167817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78631776	chr12:83167829-83167830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12369671	chr12:83167941-83167942	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571935063	chr12:83167959-83167960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553099283	chr12:83167968-83167969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542295887	chr12:83167999-83168000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189679699	chr12:83168018-83168019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531178304	chr12:83168020-83168021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141427716	chr12:83168062-83168063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11115409	chr12:83168113-83168114	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532847811	chr12:83168163-83168164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181870700	chr12:83168170-83168171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11115410	chr12:83168179-83168180	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12310132	chr12:83168217-83168218	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184519077	chr12:83168253-83168254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12308668	chr12:83168258-83168259	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570156133	chr12:83168274-83168275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550685955	chr12:83168292-83168293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543610303	chr12:83168303-83168304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552532688	chr12:83168313-83168314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570557571	chr12:83168360-83168361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538524206	chr12:83168368-83168369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561797483	chr12:83168393-83168394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139326993	chr12:83168397-83168398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553681784	chr12:83168412-83168413	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148940256	chr12:83168429-83168430	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201334263	chr12:83168430-83168431	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529229245	chr12:83168484-83168485	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547793917	chr12:83168507-83168508	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146134983	chr12:83168512-83168513	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554320314	chr12:83168536-83168537	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576098817	chr12:83168550-83168551	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543196372	chr12:83168604-83168605	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566115787	chr12:83168613-83168614	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10047619	chr12:83168616-83168617	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83150600-83174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83151600-83168600	Weak transcription	Gastric	stomach
3	chr12:83151600-83173200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:83153200-83168400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:83153200-83198600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:83155200-83177200	Weak transcription	Fetal Kidney	kidney
7	chr12:83155400-83169800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:83157200-83196000	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:83158400-83168400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:83162200-83173800	Weak transcription	Fetal Lung	lung
11	chr12:83162600-83169600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:83162800-83168400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:83162800-83168400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:83162800-83169800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:83162800-83174600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:83163000-83168000	Weak transcription	Fetal Stomach	stomach
17	chr12:83163000-83168400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:83163000-83170000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:83163000-83172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:83164400-83176200	Weak transcription	Fetal Heart	heart
21	chr12:83166000-83170200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:83166400-83168600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:83166800-83170000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:83167200-83169600	Weak transcription	Stomach Mucosa	stomach
25	chr12:83168000-83169200	Strong transcription	Fetal Stomach	stomach
26	chr12:83168400-83168800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr12:83168400-83168800	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:83168400-83169200	Enhancers	Colon Smooth Muscle	Colon
29	chr12:83168400-83169400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:83168400-83170000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:83168400-83171200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:83168600-83168800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:83168600-83168800	Enhancers	Gastric	stomach
34	chr12:83168600-83170600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:83168800-83169000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:83168800-83169200	Weak transcription	Gastric	stomach
37	chr12:83168800-83169600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:83169000-83170200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr12:83169000-83177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:83169200-83176200	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:83169200-83182600	Weak transcription	Fetal Stomach	stomach
42	chr12:83169400-83189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:83169600-83169800	Enhancers	Brain Substantia Nigra	brain
44	chr12:83169600-83170200	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:83169800-83170000	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:83169800-83170200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:83169800-83170200	Weak transcription	Brain Substantia Nigra	brain
48	chr12:83170000-83170200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:83170000-83170200	Enhancers	Brain Cingulate Gyrus	brain
50	chr12:83170000-83178000	Weak transcription	Primary monocytes fromperipheralblood	blood

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