Variant report

Variant	esv3513806
Chromosome Location	chr10:45423131-45424240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:45423443-45423541	NB4	blood:	n/a	chr10:45423529-45423539

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45423081..45426439-chr10:45487238..45490931,4	K562	blood:
2	chr10:45406644..45408622-chr10:45422950..45424971,2	K562	blood:

Variant related genes	Relation type
TMEM72	TF binding region
ENSG00000187783	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183512628	chr10:45423145-45423146	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10900130	chr10:45423160-45423161	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578016643	chr10:45423187-45423188	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556959546	chr10:45423200-45423201	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111933813	chr10:45423234-45423235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111433190	chr10:45423238-45423239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186363158	chr10:45423256-45423257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10900131	chr10:45423282-45423283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540500601	chr10:45423314-45423315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554084830	chr10:45423345-45423346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144636835	chr10:45423350-45423351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532437325	chr10:45423376-45423377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192164342	chr10:45423377-45423378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562496880	chr10:45423423-45423424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373791316	chr10:45423434-45423435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377658450	chr10:45423446-45423447	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs17157260	chr10:45423466-45423467	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182629087	chr10:45423518-45423519	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74585491	chr10:45423557-45423558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187708474	chr10:45423575-45423576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191192351	chr10:45423581-45423582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182514337	chr10:45423605-45423606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557093668	chr10:45423626-45423627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568864112	chr10:45423636-45423637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79065395	chr10:45423656-45423657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555224061	chr10:45423677-45423678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368566502	chr10:45423688-45423689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs56344247	chr10:45423704-45423705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558686130	chr10:45423706-45423707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577027172	chr10:45423725-45423726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11239281	chr10:45423727-45423728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562684286	chr10:45423759-45423760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530090251	chr10:45423797-45423798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541885327	chr10:45423809-45423810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371844783	chr10:45423828-45423829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187489205	chr10:45423838-45423839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114752248	chr10:45423862-45423863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546923745	chr10:45423886-45423887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77293768	chr10:45423917-45423918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371795083	chr10:45423918-45423919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532391603	chr10:45423922-45423923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550683212	chr10:45423936-45423937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541485733	chr10:45423951-45423952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568890122	chr10:45424012-45424013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150493515	chr10:45424048-45424049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369745150	chr10:45424084-45424085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566473265	chr10:45424103-45424104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374946135	chr10:45424133-45424134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145345266	chr10:45424152-45424153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192001688	chr10:45424179-45424180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45410200-45430400	Weak transcription	Gastric	stomach
2	chr10:45413400-45428200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
4	chr10:45418800-45424800	Weak transcription	Colonic Mucosa	Colon
5	chr10:45420400-45428000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:45420400-45428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:45421000-45423200	Weak transcription	Lung	lung
8	chr10:45421000-45427800	Weak transcription	Right Ventricle	heart
9	chr10:45421600-45428000	Weak transcription	Fetal Heart	heart
10	chr10:45421800-45425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:45422200-45423200	Flanking Active TSS	HepG2	liver
12	chr10:45422200-45423400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr10:45422200-45423600	Enhancers	Fetal Intestine Large	intestine
14	chr10:45422200-45423600	Enhancers	HSMMtube	muscle
15	chr10:45422400-45423200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:45422400-45423200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:45422400-45423200	Enhancers	Esophagus	oesophagus
18	chr10:45422400-45423400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:45422400-45423400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr10:45422400-45423400	Enhancers	Duodenum Mucosa	Duodenum
21	chr10:45422400-45423400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:45422400-45423400	Enhancers	Pancreas	Pancrea
23	chr10:45422400-45423600	Enhancers	Fetal Intestine Small	intestine
24	chr10:45422400-45423600	Enhancers	Fetal Muscle Leg	muscle
25	chr10:45422600-45423200	Enhancers	Adipose Nuclei	Adipose
26	chr10:45422600-45427800	Weak transcription	Spleen	Spleen
27	chr10:45422800-45423200	Enhancers	Fetal Thymus	thymus
28	chr10:45422800-45423200	Enhancers	Ovary	ovary
29	chr10:45422800-45423400	Enhancers	Liver	Liver
30	chr10:45422800-45423400	Enhancers	Fetal Muscle Trunk	muscle
31	chr10:45423000-45423400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:45423000-45423400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr10:45423000-45428200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr10:45423200-45423400	Enhancers	Lung	lung
35	chr10:45423200-45423800	Enhancers	HepG2	liver
36	chr10:45423200-45427800	Weak transcription	Adipose Nuclei	Adipose
37	chr10:45423200-45428600	Weak transcription	Esophagus	oesophagus
38	chr10:45423400-45427800	Weak transcription	Pancreas	Pancrea
39	chr10:45423400-45427800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr10:45423400-45428000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr10:45423400-45428000	Weak transcription	Liver	Liver
42	chr10:45423400-45428000	Weak transcription	Lung	lung
43	chr10:45423400-45428000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr10:45423600-45427600	Weak transcription	Fetal Muscle Leg	muscle
45	chr10:45423600-45428000	Weak transcription	Fetal Intestine Large	intestine

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