Variant report

Variant	nsv947607
Chromosome Location	chr10:38021929-38040760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:3251463..3254230-chr10:38037400..38039879,2	MCF-7	breast:
2	chr10:38025555..38028373-chr10:38146555..38148266,2	K562	blood:
3	chr10:38022553..38025256-chr10:38025509..38028052,2	MCF-7	breast:
4	chr10:38040212..38041752-chr10:38042048..38043718,2	MCF-7	breast:
5	chr10:38022553..38025256-chr10:38025509..38028052,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198105	chromatin interactions
ENSG00000236514	chromatin interactions

Extended variants
information (count: 797 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75381091	chr10:38021950-38021951	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570894166	chr10:38021967-38021968	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10508860	chr10:38022001-38022002	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs547085973	chr10:38022067-38022068	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567209519	chr10:38022080-38022081	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11812731	chr10:38022086-38022087	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550047792	chr10:38022095-38022096	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556057846	chr10:38022096-38022097	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569963198	chr10:38022104-38022105	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs11591935	chr10:38022129-38022130	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs183532062	chr10:38022201-38022202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578069490	chr10:38022203-38022204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139444875	chr10:38022293-38022294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554313925	chr10:38022307-38022308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72639534	chr10:38022314-38022315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376140547	chr10:38022368-38022369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12570939	chr10:38022440-38022441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188495252	chr10:38022453-38022454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562917473	chr10:38022454-38022455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12570943	chr10:38022469-38022470	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144162106	chr10:38022471-38022472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564585305	chr10:38022507-38022508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16906131	chr10:38022513-38022514	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546955742	chr10:38022533-38022534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192784075	chr10:38022540-38022541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570853435	chr10:38022553-38022554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146502656	chr10:38022560-38022561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182668155	chr10:38022581-38022582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569743468	chr10:38022765-38022766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538984229	chr10:38022767-38022768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74644689	chr10:38022837-38022838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565937398	chr10:38022877-38022878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534197424	chr10:38022878-38022879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554178820	chr10:38023079-38023080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186902665	chr10:38023130-38023131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12244864	chr10:38023144-38023145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556756406	chr10:38023158-38023159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191353708	chr10:38023209-38023210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183653201	chr10:38023221-38023222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565253709	chr10:38023270-38023271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530941570	chr10:38023275-38023276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540654029	chr10:38023279-38023280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560707512	chr10:38023308-38023309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190466673	chr10:38023338-38023339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549610445	chr10:38023341-38023342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76832438	chr10:38023357-38023358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532359253	chr10:38023372-38023373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11592531	chr10:38023401-38023402	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs142161387	chr10:38023409-38023410	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs118048488	chr10:38023422-38023423	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38021200-38022600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:38021400-38022200	Enhancers	HSMM	muscle
3	chr10:38021400-38022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:38021400-38024400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:38021800-38022000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr10:38021800-38022000	Active TSS	A549	lung
7	chr10:38022000-38022200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:38022000-38022200	Flanking Active TSS	A549	lung
9	chr10:38022000-38023800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr10:38022200-38023400	Enhancers	A549	lung
11	chr10:38022200-38037000	Weak transcription	HSMM	muscle
12	chr10:38022600-38023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:38022800-38024000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:38023000-38023400	Enhancers	HSMMtube	muscle
15	chr10:38023400-38023600	Flanking Active TSS	A549	lung
16	chr10:38023400-38024200	Enhancers	NHLF	lung
17	chr10:38023400-38024600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:38023400-38026000	Enhancers	Placenta	Placenta
19	chr10:38023600-38024800	Enhancers	A549	lung
20	chr10:38023800-38024800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:38024200-38024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:38024200-38025400	Enhancers	HepG2	liver
23	chr10:38024600-38025000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:38024800-38025200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr10:38025000-38025400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:38026000-38026400	Bivalent Enhancer	Placenta	Placenta
27	chr10:38026200-38026400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:38026200-38028200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:38030400-38031000	Enhancers	Gastric	stomach
30	chr10:38032400-38032800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr10:38036800-38038200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:38037000-38037200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:38037000-38037200	Enhancers	HepG2	liver
34	chr10:38037000-38037600	Enhancers	HSMM	muscle
35	chr10:38037000-38037600	Enhancers	HSMMtube	muscle
36	chr10:38037200-38043000	Weak transcription	HepG2	liver
37	chr10:38039800-38040000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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