Variant report

Variant	esv3315174
Chromosome Location	chr10:57168614-57182788
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	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:
2	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558697132	chr10:57168618-57168619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569545950	chr10:57168641-57168642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538113056	chr10:57168678-57168679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369196243	chr10:57168693-57168694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528309545	chr10:57168703-57168704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374755036	chr10:57168710-57168711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111734241	chr10:57168805-57168806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546740910	chr10:57168821-57168822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574738412	chr10:57168848-57168849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540769332	chr10:57168912-57168913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190960836	chr10:57168974-57168975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138380334	chr10:57168991-57168992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546042419	chr10:57168997-57168998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562638738	chr10:57168998-57168999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141106043	chr10:57169003-57169004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538500144	chr10:57169062-57169063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561771464	chr10:57169095-57169096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150263677	chr10:57169117-57169118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547116364	chr10:57169132-57169133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556948258	chr10:57169133-57169134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570232881	chr10:57169141-57169142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182795787	chr10:57169153-57169154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552359934	chr10:57169225-57169226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34830009	chr10:57169247-57169248	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538576619	chr10:57169272-57169273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554953651	chr10:57169291-57169292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568474911	chr10:57169293-57169294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534163604	chr10:57169300-57169301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138736582	chr10:57169419-57169420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577431000	chr10:57169449-57169450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186380336	chr10:57169467-57169468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538411001	chr10:57169480-57169481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191311926	chr10:57169511-57169512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149346541	chr10:57169515-57169516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183090279	chr10:57169566-57169567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12267328	chr10:57169575-57169576	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187635572	chr10:57169589-57169590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563695250	chr10:57169617-57169618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532864966	chr10:57169621-57169622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549461109	chr10:57169623-57169624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192076440	chr10:57169631-57169632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183568482	chr10:57169657-57169658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189026295	chr10:57169666-57169667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73257724	chr10:57169683-57169684	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192369791	chr10:57169685-57169686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554674664	chr10:57169743-57169744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572705963	chr10:57169748-57169749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547822164	chr10:57169797-57169798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570814787	chr10:57169814-57169815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184272525	chr10:57169828-57169829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57168200-57170000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr10:57169200-57170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:57169400-57170000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:57169600-57170800	Enhancers	Brain Germinal Matrix	brain
5	chr10:57169800-57170000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:57169800-57171200	Enhancers	HUVEC	blood vessel
7	chr10:57170000-57170200	Enhancers	Brain Anterior Caudate	brain
8	chr10:57170000-57170400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:57170000-57170400	Enhancers	Brain Hippocampus Middle	brain
10	chr10:57170000-57170600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:57170000-57170600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr10:57170000-57170600	Enhancers	Adipose Nuclei	Adipose
13	chr10:57170000-57170600	Enhancers	Fetal Lung	lung
14	chr10:57170000-57170800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:57170000-57170800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:57170000-57170800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:57170000-57170800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:57170000-57170800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr10:57170000-57170800	Enhancers	Brain Substantia Nigra	brain
20	chr10:57170000-57170800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:57170000-57171000	Enhancers	Fetal Heart	heart
22	chr10:57170000-57171400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:57170200-57170400	Active TSS	Right Atrium	heart
24	chr10:57170200-57170600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:57170200-57170600	Active TSS	Brain Anterior Caudate	brain
26	chr10:57170200-57170600	Active TSS	Fetal Muscle Trunk	muscle
27	chr10:57170200-57170600	Active TSS	Psoas Muscle	Psoas
28	chr10:57170200-57170600	Active TSS	HSMMtube	muscle
29	chr10:57170200-57170800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr10:57170200-57170800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr10:57170400-57170600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:57170400-57170600	Flanking Active TSS	Right Atrium	heart
33	chr10:57170400-57170800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr10:57170400-57170800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr10:57170400-57171000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:57170400-57171000	Enhancers	Fetal Brain Male	brain
37	chr10:57170600-57170800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:57170600-57170800	Enhancers	Brain Anterior Caudate	brain
39	chr10:57170600-57171600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:57170800-57171000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:57170800-57171800	Weak transcription	Brain Germinal Matrix	brain
42	chr10:57170800-57172000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:57171800-57172000	Enhancers	Brain Germinal Matrix	brain

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