Variant report

Variant	esv1431930
Chromosome Location	chr10:42397843-42398183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149222942..149224601-chr10:42397745..42399854,2	MCF-7	breast:
2	chr10:42396404..42399699-chr10:42528302..42530349,4	MCF-7	breast:
3	chr10:42397869..42400416-chr19:27731046..27733513,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-12	chr10:42397884-42397971	NONHSAT012847
2	lnc-BMS1-12	chr10:42398139-42398174	NONHSAT012847

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71476304	chr10:42397844-42397845	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550963851	chr10:42397847-42397848	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570867841	chr10:42397849-42397850	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75788242	chr10:42397851-42397852	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542192763	chr10:42397853-42397854	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370417652	chr10:42397855-42397856	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553423523	chr10:42397858-42397859	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371789057	chr10:42397859-42397860	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535653862	chr10:42397860-42397861	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376491477	chr10:42397862-42397863	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537908758	chr10:42397863-42397864	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs80198150	chr10:42397866-42397867	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370008951	chr10:42397867-42397868	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556063171	chr10:42397868-42397869	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575842885	chr10:42397870-42397871	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374344410	chr10:42397872-42397873	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61847600	chr10:42397874-42397875	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377654953	chr10:42397875-42397876	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544881189	chr10:42397885-42397886	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs564490685	chr10:42397889-42397890	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs79408485	chr10:42397890-42397891	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs369448270	chr10:42397901-42397902	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs373626322	chr10:42397903-42397904	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs113740367	chr10:42397909-42397910	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs540761200	chr10:42397914-42397915	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs201926182	chr10:42397917-42397918	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs375969630	chr10:42397919-42397920	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs12778025	chr10:42397926-42397927	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs529127351	chr10:42397928-42397929	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs12773850	chr10:42397929-42397930	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139004786	chr10:42397933-42397934	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs562657460	chr10:42397934-42397935	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs370685675	chr10:42397936-42397937	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs78594998	chr10:42397941-42397942	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs373805456	chr10:42397950-42397951	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs375628689	chr10:42397951-42397952	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs75017655	chr10:42397952-42397953	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs77798011	chr10:42397954-42397955	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs184064395	chr10:42397955-42397956	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs531510050	chr10:42397960-42397961	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs551227753	chr10:42397962-42397963	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs540234485	chr10:42397968-42397969	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs149736271	chr10:42397969-42397970	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs75046878	chr10:42397987-42397988	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371064486	chr10:42397990-42397991	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570932980	chr10:42397996-42397997	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77360969	chr10:42397997-42397998	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201231598	chr10:42397998-42397999	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75838827	chr10:42397999-42398000	ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533520660	chr10:42398004-42398005	ZNF genes & repeats Bivalent Enhancer 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
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
Ovarian cancer	21781307	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42373600-42399600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:42373600-42399600	ZNF genes & repeats	Fetal Kidney	kidney
3	chr10:42373600-42400800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr10:42373600-42400800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:42373600-42400800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:42373600-42400800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:42373600-42400800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
10	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
11	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr10:42373600-42400800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr10:42373600-42400800	ZNF genes & repeats	Brain Angular Gyrus	brain
15	chr10:42373600-42400800	ZNF genes & repeats	Brain Anterior Caudate	brain
16	chr10:42373600-42400800	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr10:42373600-42400800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr10:42373600-42400800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:42373600-42400800	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr10:42373600-42400800	ZNF genes & repeats	Colon Smooth Muscle	Colon
21	chr10:42373600-42400800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr10:42373600-42400800	ZNF genes & repeats	Fetal Heart	heart
23	chr10:42373600-42400800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr10:42373600-42400800	ZNF genes & repeats	Fetal Lung	lung
25	chr10:42373600-42400800	ZNF genes & repeats	Gastric	stomach
26	chr10:42373600-42400800	ZNF genes & repeats	Left Ventricle	heart
27	chr10:42373600-42400800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr10:42373600-42400800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
29	chr10:42373600-42400800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr10:42373600-42400800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr10:42373600-42400800	ZNF genes & repeats	Dnd41	blood
32	chr10:42373600-42400800	ZNF genes & repeats	HMEC	breast
33	chr10:42373600-42400800	ZNF genes & repeats	HSMMtube	muscle
34	chr10:42373600-42400800	ZNF genes & repeats	NH-A	brain
35	chr10:42373600-42401200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr10:42373600-42402200	ZNF genes & repeats	Colonic Mucosa	Colon
37	chr10:42373600-42402400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
38	chr10:42373600-42402400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
39	chr10:42373600-42402400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:42373600-42402400	ZNF genes & repeats	Fetal Stomach	stomach
41	chr10:42373600-42402600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr10:42373600-42402600	ZNF genes & repeats	Liver	Liver
43	chr10:42373600-42402600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr10:42373600-42402600	ZNF genes & repeats	Fetal Brain Male	brain
45	chr10:42373600-42402800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:42373600-42402800	ZNF genes & repeats	HepG2	liver
47	chr10:42373600-42403600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr10:42373600-42405200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr10:42373600-42409400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:42373600-42409400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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