Variant report

Variant	esv3325678
Chromosome Location	chr10:422352-426750
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	CTCF	chr10:425876-425890	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr10:426011-426061	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr10:425480-425630	HRE	kidney:	n/a	chr10:425488-425501
4	CTCF	chr10:425976-426067	GM10248	blood:	n/a	n/a
5	CTCF	chr10:425420-425570	RPTEC	kidney:	n/a	chr10:425488-425501
6	MAX	chr10:424585-424587	A549	lung:	n/a	n/a
7	MAX	chr10:424356-424854	H1-hESC	embryonic stem cell:	n/a	chr10:424480-424490 chr10:424470-424480
8	MAX	chr10:423173-423557	NB4	blood:	n/a	chr10:423418-423427 chr10:423417-423428 chr10:423416-423429 chr10:423346-423355 chr10:423419-423428 chr10:423416-423429 chr10:423421-423429 chr10:423418-423427 chr10:423347-423356 chr10:423344-423359 chr10:423416-423429 chr10:423347-423354 chr10:423345-423355
9	MAX	chr10:423188-423438	K562	blood:	n/a	chr10:423418-423427 chr10:423417-423428 chr10:423416-423429 chr10:423346-423355 chr10:423419-423428 chr10:423416-423429 chr10:423421-423429 chr10:423418-423427 chr10:423347-423356 chr10:423344-423359 chr10:423416-423429 chr10:423347-423354 chr10:423345-423355
10	MAX	chr10:424323-424845	NB4	blood:	n/a	chr10:424480-424490 chr10:424470-424480
11	SUZ12	chr10:424360-424884	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr10:423354-423463	Hela-S3	cervix:	n/a	chr10:423416-423429 chr10:423417-423426 chr10:423418-423427 chr10:423416-423427 chr10:423412-423433 chr10:423418-423427
13	WRNIP1	chr10:424265-424451	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:423607-423657	NT2-D1	testis:	n/a
2	chr10:423607-423657	NT2-D1	testis:	n/a
3	chr10:423607-423657	AG04450	lung:	fetal
4	chr10:423907-423957	HPAEpiC	pulmonary alveolar:	n/a
5	chr10:426440-426490	HRPEpiC	eye:	n/a
6	chr10:423577-423627	GM06990	blood:	n/a
7	chr10:422330-422380	NH-A	brain:	n/a
8	chr10:423907-423957	K562	blood:	n/a
9	chr10:423907-423957	NHBE	bronchial:	n/a
10	chr10:423607-423657	HEEpiC	esophagus:	n/a
11	chr10:423607-423657	HCM	heart:	n/a
12	chr10:423607-423657	SK-N-SH_RA	brain:	n/a
13	chr10:422330-422380	Caco-2	colon:	n/a
14	chr10:426200-426250	HAEpiC	amniotic membrane:	n/a
15	chr10:423577-423627	GM12891	blood:	n/a
16	chr10:422393-422443	NHDF-neo	bronchial:	n/a
17	chr10:422393-422443	NB4	blood:	n/a
18	chr10:422330-422380	PFSK-1	brain:	n/a
19	chr10:422393-422443	HCT-116	colon:	n/a
20	chr10:423577-423627	AG10803	skin:	n/a
21	chr10:426440-426490	PANC-1	pancreas:	n/a
22	chr10:422393-422443	ProgFib	skin:	n/a
23	chr10:423607-423657	HCPEpiC	choroid plexus:	n/a
24	chr10:422330-422380	HRCEpiC	kidney:	n/a
25	chr10:422330-422380	CMK	blood:	n/a
26	chr10:423577-423627	SK-N-SH	brain:	n/a
27	chr10:426200-426250	HRPEpiC	eye:	n/a
28	chr10:423577-423627	PrEC	prostate:	n/a
29	chr10:423577-423627	AG09309	skin:	n/a
30	chr10:422393-422443	Caco-2	colon:	n/a
31	chr10:423577-423627	HRE	kidney:	n/a
32	chr10:426440-426490	AG09309	skin:	n/a
33	chr10:423907-423957	AG09309	skin:	n/a
34	chr10:426200-426250	Hela-S3	cervix:	n/a
35	chr10:426440-426490	HIPEpiC	eye:	n/a
36	chr10:422393-422443	A549	lung:	n/a
37	chr10:426200-426250	AG09309	skin:	n/a
38	chr10:423607-423657	HUVEC	blood vessel:	n/a
39	chr10:422393-422443	AoSMC	blood vessel:	n/a
40	chr10:423607-423657	K562	blood:	n/a
41	chr10:423577-423627	HRPEpiC	eye:	n/a
42	chr10:422393-422443	AG09319	gingival:	n/a
43	chr10:423577-423627	K562	blood:	n/a
44	chr10:423907-423957	GM19239	blood:	n/a
45	chr10:426440-426490	HMEC	breast:	n/a
46	chr10:423907-423957	MCF10A-Er-Src	breast:	n/a
47	chr10:423907-423957	HEEpiC	esophagus:	n/a
48	chr10:422330-422380	HRPEpiC	eye:	n/a
49	chr10:426440-426490	RPTEC	kidney:	n/a
50	chr10:423607-423657	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:418529..420977-chr10:423875..425608,2	MCF-7	breast:
2	chr10:419017..420847-chr10:423396..425285,2	MCF-7	breast:
3	chr10:426509..428082-chr10:439441..441586,2	MCF-7	breast:
4	chr10:418843..421736-chr10:422097..423725,2	MCF-7	breast:

Variant related genes	Relation type
DIP2C	TF binding region
DIP2C	CpG island
ENSG00000151240	chromatin interactions

Extended variants
information (count: 373 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542453659	chr10:422379-422380	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs367569097	chr10:422386-422387	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180837714	chr10:422394-422395	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527835630	chr10:422398-422399	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541351097	chr10:422410-422411	Weak transcription Strong transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34002965	chr10:422448-422449	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543907997	chr10:422449-422450	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75430022	chr10:422450-422451	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113063510	chr10:422457-422458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74114535	chr10:422486-422487	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570180829	chr10:422495-422496	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61541768	chr10:422497-422498	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535024387	chr10:422498-422499	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397732301	chr10:422514-422515	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs28653194	chr10:422567-422568	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529361115	chr10:422579-422580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551873031	chr10:422580-422581	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549415585	chr10:422592-422593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546657360	chr10:422610-422611	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566280328	chr10:422623-422624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538203835	chr10:422643-422644	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568263616	chr10:422649-422650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565401377	chr10:422663-422664	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551766127	chr10:422680-422681	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533946827	chr10:422690-422691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554123717	chr10:422703-422704	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187633131	chr10:422712-422713	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539465220	chr10:422723-422724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534325102	chr10:422790-422791	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555881978	chr10:422798-422799	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138772547	chr10:422800-422801	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374730984	chr10:422822-422823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116137157	chr10:422849-422850	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77299831	chr10:422881-422882	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572323574	chr10:422886-422887	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191816908	chr10:422887-422888	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537772147	chr10:422900-422901	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564468349	chr10:422927-422928	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117552488	chr10:422936-422937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183688706	chr10:422955-422956	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574161708	chr10:422959-422960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144667516	chr10:422970-422971	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148703552	chr10:422997-422998	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566144374	chr10:423012-423013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185980131	chr10:423038-423039	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142883914	chr10:423080-423081	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557040806	chr10:423081-423082	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs5782549	chr10:423082-423083	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs397793797	chr10:423097-423098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537739660	chr10:423148-423149	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:380200-423200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:383800-424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:383800-433000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr10:394600-435400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr10:395800-489400	Weak transcription	Stomach Mucosa	stomach
6	chr10:399000-428400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:405400-426400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr10:408800-435400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:409000-423200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:409200-428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:409400-424200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:410200-424800	Enhancers	Fetal Thymus	thymus
13	chr10:413000-423200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr10:414800-435400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr10:415400-423200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr10:415400-424200	Weak transcription	Colonic Mucosa	Colon
17	chr10:415400-425800	Weak transcription	Ovary	ovary
18	chr10:415600-427400	Weak transcription	Esophagus	oesophagus
19	chr10:415600-453800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr10:416000-424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:416400-424000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:418400-458400	Weak transcription	Small Intestine	intestine
23	chr10:419000-436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:419800-435400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:420000-427400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:420000-435400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:420000-442600	Weak transcription	Psoas Muscle	Psoas
28	chr10:420200-424000	Weak transcription	NHDF-Ad	bronchial
29	chr10:420200-424200	Weak transcription	NHLF	lung
30	chr10:420200-425600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:420200-453200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:420400-422400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:420400-424400	Weak transcription	HepG2	liver
34	chr10:420600-424200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:420600-424200	Weak transcription	Brain Angular Gyrus	brain
36	chr10:420600-424200	Weak transcription	Spleen	Spleen
37	chr10:420600-425200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr10:420600-425800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:420600-427800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr10:420600-432800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr10:420600-433200	Strong transcription	Fetal Muscle Leg	muscle
42	chr10:420600-446200	Strong transcription	Fetal Stomach	stomach
43	chr10:420800-422600	Strong transcription	Brain Cingulate Gyrus	brain
44	chr10:420800-422600	Strong transcription	Left Ventricle	heart
45	chr10:420800-422800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr10:420800-423200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:420800-423200	Weak transcription	Brain Substantia Nigra	brain
48	chr10:420800-423200	Weak transcription	Dnd41	blood
49	chr10:420800-423200	Weak transcription	HSMMtube	muscle
50	chr10:420800-437000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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