Variant report

Variant	esv2579664
Chromosome Location	chr10:42384759-42384909
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	chr10:42384702..42385548-chr19:46850298..46850828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011485	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146334872	chr10:42384759-42384760	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147070410	chr10:42384760-42384761	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12241866	chr10:42384763-42384764	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138381572	chr10:42384764-42384765	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149724440	chr10:42384765-42384766	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs61847691	chr10:42384768-42384769	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145548485	chr10:42384769-42384770	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148873058	chr10:42384770-42384771	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs61847692	chr10:42384773-42384774	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111890511	chr10:42384775-42384776	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374623885	chr10:42384777-42384778	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9702372	chr10:42384778-42384779	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147641233	chr10:42384780-42384781	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368043597	chr10:42384782-42384783	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78554295	chr10:42384783-42384784	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568940872	chr10:42384785-42384786	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376256630	chr10:42384786-42384787	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369149577	chr10:42384787-42384788	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371198093	chr10:42384788-42384789	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142001632	chr10:42384790-42384791	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145724676	chr10:42384792-42384793	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538167540	chr10:42384794-42384795	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557760594	chr10:42384799-42384800	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61847694	chr10:42384803-42384804	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9731499	chr10:42384805-42384806	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61847695	chr10:42384808-42384809	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150319137	chr10:42384809-42384810	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138286640	chr10:42384810-42384811	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533776270	chr10:42384814-42384815	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61847696	chr10:42384817-42384818	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs36179227	chr10:42384819-42384820	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149613811	chr10:42384820-42384821	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs28848228	chr10:42384821-42384822	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138993091	chr10:42384822-42384823	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553776947	chr10:42384826-42384827	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573796307	chr10:42384837-42384838	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76575911	chr10:42384838-42384839	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146293422	chr10:42384839-42384840	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs71191792	chr10:42384840-42384841	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555956439	chr10:42384843-42384844	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77521682	chr10:42384844-42384845	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575747626	chr10:42384845-42384846	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142889820	chr10:42384851-42384852	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150635792	chr10:42384852-42384853	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9702257	chr10:42384855-42384856	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs61847697	chr10:42384860-42384861	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533399332	chr10:42384862-42384863	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77673923	chr10:42384864-42384865	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77062208	chr10:42384865-42384866	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529421877	chr10:42384872-42384873	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	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
Autism	20858243	CNVD
Obesity	20622171	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
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42373600-42385200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:42373600-42385400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:42373600-42385600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:42373600-42385600	ZNF genes & repeats	Lung	lung
5	chr10:42373600-42385800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:42373600-42385800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
7	chr10:42373600-42385800	ZNF genes & repeats	Pancreas	Pancrea
8	chr10:42373600-42385800	ZNF genes & repeats	K562	blood
9	chr10:42373600-42386000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:42373600-42386000	ZNF genes & repeats	Aorta	Aorta
11	chr10:42373600-42387800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr10:42373600-42388200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr10:42373600-42388200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr10:42373600-42388200	ZNF genes & repeats	Placenta	Placenta
15	chr10:42373600-42388200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
16	chr10:42373600-42388400	ZNF genes & repeats	Spleen	Spleen
17	chr10:42373600-42388600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr10:42373600-42389400	ZNF genes & repeats	Stomach Mucosa	stomach
19	chr10:42373600-42397200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
20	chr10:42373600-42397200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr10:42373600-42397200	ZNF genes & repeats	HUVEC	blood vessel
22	chr10:42373600-42397400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
23	chr10:42373600-42399600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:42373600-42399600	ZNF genes & repeats	Fetal Kidney	kidney
25	chr10:42373600-42400800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr10:42373600-42400800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:42373600-42400800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:42373600-42400800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:42373600-42400800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr10:42373600-42400800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr10:42373600-42400800	ZNF genes & repeats	Brain Angular Gyrus	brain
37	chr10:42373600-42400800	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr10:42373600-42400800	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr10:42373600-42400800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr10:42373600-42400800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:42373600-42400800	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr10:42373600-42400800	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr10:42373600-42400800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr10:42373600-42400800	ZNF genes & repeats	Fetal Heart	heart
45	chr10:42373600-42400800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr10:42373600-42400800	ZNF genes & repeats	Fetal Lung	lung
47	chr10:42373600-42400800	ZNF genes & repeats	Gastric	stomach
48	chr10:42373600-42400800	ZNF genes & repeats	Left Ventricle	heart
49	chr10:42373600-42400800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr10:42373600-42400800	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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