Variant report

Variant	esv2760276
Chromosome Location	chr12:83241899-83243773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83217595..83219662-chr12:83240965..83242554,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560796533	chr12:83241914-83241915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112466109	chr12:83241951-83241952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530944322	chr12:83241977-83241978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528221830	chr12:83242086-83242087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551054405	chr12:83242099-83242100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540027298	chr12:83242130-83242131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564784165	chr12:83242135-83242136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7304237	chr12:83242325-83242326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373676925	chr12:83242339-83242340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190840039	chr12:83242370-83242371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561282281	chr12:83242387-83242388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531357300	chr12:83242402-83242403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543612540	chr12:83242440-83242441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117711723	chr12:83242453-83242454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182238344	chr12:83242483-83242484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113823702	chr12:83242514-83242515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368788356	chr12:83242523-83242524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558905814	chr12:83242555-83242556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550419726	chr12:83242603-83242604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10506884	chr12:83242668-83242669	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548554060	chr12:83242671-83242672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117593784	chr12:83242725-83242726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570339361	chr12:83242743-83242744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537217134	chr12:83242745-83242746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113436175	chr12:83242773-83242774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571084939	chr12:83242786-83242787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71450907	chr12:83242832-83242833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535106098	chr12:83242843-83242844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553546791	chr12:83242872-83242873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11836973	chr12:83242912-83242913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535843904	chr12:83242918-83242919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376328349	chr12:83242931-83242932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576302018	chr12:83243036-83243037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145506198	chr12:83243062-83243063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543223319	chr12:83243074-83243075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146433360	chr12:83243103-83243104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576658830	chr12:83243141-83243142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540714891	chr12:83243222-83243223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566837627	chr12:83243246-83243247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140723847	chr12:83243364-83243365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529605233	chr12:83243443-83243444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555282069	chr12:83243482-83243483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548185890	chr12:83243494-83243495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150106543	chr12:83243505-83243506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531217023	chr12:83243544-83243545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200889009	chr12:83243589-83243590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138459292	chr12:83243590-83243591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571049122	chr12:83243612-83243613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535283545	chr12:83243625-83243626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552902872	chr12:83243642-83243643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83196400-83250800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:83206600-83250000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:83212400-83257000	Weak transcription	Gastric	stomach
5	chr12:83214200-83250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:83229600-83252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:83232400-83242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:83232800-83243400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:83233000-83242400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:83234000-83249200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:83236000-83249000	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:83236000-83249200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:83236000-83250800	Weak transcription	Fetal Lung	lung
14	chr12:83236000-83264000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:83236200-83253200	Weak transcription	Fetal Brain Male	brain
16	chr12:83236800-83242400	Weak transcription	Brain Anterior Caudate	brain
17	chr12:83236800-83242600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:83236800-83242600	Weak transcription	Brain Angular Gyrus	brain
19	chr12:83236800-83242600	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:83236800-83242800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:83236800-83245200	Weak transcription	Brain Substantia Nigra	brain
22	chr12:83238200-83246400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:83240000-83250800	Weak transcription	Fetal Stomach	stomach
24	chr12:83240400-83242400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:83240600-83242000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:83240800-83242600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:83240800-83245200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:83241000-83242200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:83241000-83242600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:83241200-83242400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:83241400-83242600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:83241800-83242200	Enhancers	Stomach Mucosa	stomach
33	chr12:83242000-83242800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:83242000-83244400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:83242000-83244400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:83242200-83244400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:83242200-83244400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
39	chr12:83242400-83243200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:83242400-83243600	Enhancers	Brain Anterior Caudate	brain
41	chr12:83242400-83244400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr12:83242400-83244400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:83242400-83244400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:83242400-83244400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:83242400-83244400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:83242600-83243000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:83242600-83243000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:83242600-83243200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:83242600-83243200	Enhancers	Brain Angular Gyrus	brain
50	chr12:83242600-83243200	Enhancers	Brain Hippocampus Middle	brain

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