Variant report

Variant	esv3325745
Chromosome Location	chr10:6251604-6253254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6249451..6252477-chr10:6252656..6257901,6	MCF-7	breast:
2	chr10:6242896..6247550-chr10:6249127..6253447,5	K562	blood:
3	chr10:6131719..6134216-chr10:6253022..6254903,2	MCF-7	breast:
4	chr10:6252635..6254396-chr10:6258797..6261104,2	MCF-7	breast:
5	chr10:6249451..6252477-chr10:6252656..6257901,6	MCF-7	breast:
6	chr10:6249507..6251896-chr10:6339799..6342783,2	MCF-7	breast:
7	chr10:6242896..6246332-chr10:6250640..6253447,3	K562	blood:
8	chr10:6223792..6226013-chr10:6250745..6253206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213994	chromatin interactions
ENSG00000170525	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192540154	chr10:6251612-6251613	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183242998	chr10:6251617-6251618	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148813077	chr10:6251618-6251619	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574446825	chr10:6251634-6251635	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs188649460	chr10:6251647-6251648	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560266952	chr10:6251676-6251677	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs117276991	chr10:6251691-6251692	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546480454	chr10:6251707-6251708	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565287265	chr10:6251728-6251729	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145106284	chr10:6251729-6251730	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200397076	chr10:6251731-6251732	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201480516	chr10:6251732-6251733	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs56822740	chr10:6251745-6251746	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567923380	chr10:6251773-6251774	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192983803	chr10:6251789-6251790	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs143467273	chr10:6251792-6251793	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148059188	chr10:6251814-6251815	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184835208	chr10:6251815-6251816	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs572460235	chr10:6251841-6251842	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188795740	chr10:6251850-6251851	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572738926	chr10:6251872-6251873	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534502878	chr10:6251876-6251877	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142689866	chr10:6251926-6251927	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2516615	chr10:6251940-6251941	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2516616	chr10:6251950-6251951	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7903828	chr10:6251951-6251952	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs578070513	chr10:6251961-6251962	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs28532995	chr10:6251966-6251967	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377339225	chr10:6251969-6251970	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111593060	chr10:6251973-6251974	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28515908	chr10:6251976-6251977	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs28699422	chr10:6251979-6251980	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546511104	chr10:6251994-6251995	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28391561	chr10:6251995-6251996	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11257299	chr10:6252003-6252004	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs55811515	chr10:6252004-6252005	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529135672	chr10:6252010-6252011	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369374008	chr10:6252011-6252012	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568952634	chr10:6252038-6252039	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541435101	chr10:6252061-6252062	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs551147056	chr10:6252109-6252110	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566463400	chr10:6252136-6252137	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533744508	chr10:6252212-6252213	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181908206	chr10:6252238-6252239	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78406644	chr10:6252265-6252266	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538519294	chr10:6252279-6252280	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556764616	chr10:6252287-6252288	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs77885970	chr10:6252291-6252292	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs398096762	chr10:6252292-6252293	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200802766	chr10:6252299-6252300	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6246000-6272200	Weak transcription	K562	blood
2	chr10:6246600-6253200	Weak transcription	Primary T cells from cord blood	blood
3	chr10:6246600-6253400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:6246800-6253600	Weak transcription	Colonic Mucosa	Colon
5	chr10:6246800-6256800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:6247000-6252200	Weak transcription	Fetal Stomach	stomach
7	chr10:6247000-6253000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:6247000-6253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:6247000-6253200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:6247000-6253200	Weak transcription	Gastric	stomach
11	chr10:6247000-6253200	Weak transcription	Right Atrium	heart
12	chr10:6247000-6253200	Weak transcription	Right Ventricle	heart
13	chr10:6247000-6253400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:6247000-6253400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:6247000-6254800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:6247000-6255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:6247000-6255600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:6247000-6255600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr10:6247000-6255600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr10:6247000-6255800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:6247000-6258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:6247000-6280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:6247200-6252800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:6247200-6253000	Weak transcription	Fetal Heart	heart
25	chr10:6247200-6253000	Weak transcription	NH-A	brain
26	chr10:6247200-6253200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr10:6247200-6253200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:6247200-6253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:6247200-6253200	Weak transcription	Colon Smooth Muscle	Colon
30	chr10:6247200-6253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:6247200-6253200	Weak transcription	Ovary	ovary
32	chr10:6247200-6253200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:6247200-6253200	Weak transcription	NHLF	lung
34	chr10:6247200-6253400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr10:6247200-6253400	Weak transcription	Fetal Intestine Small	intestine
36	chr10:6247200-6253400	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:6247200-6253600	Weak transcription	Pancreas	Pancrea
38	chr10:6247200-6253600	Weak transcription	NHDF-Ad	bronchial
39	chr10:6247200-6255000	Weak transcription	Hela-S3	cervix
40	chr10:6247200-6255400	Weak transcription	Liver	Liver
41	chr10:6247200-6255600	Weak transcription	Fetal Thymus	thymus
42	chr10:6247200-6255600	Weak transcription	HUVEC	blood vessel
43	chr10:6247200-6255800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr10:6247200-6255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr10:6247200-6281000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr10:6247400-6252200	Weak transcription	HSMMtube	muscle
47	chr10:6247400-6253000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:6247400-6253000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr10:6247400-6253000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:6247400-6253000	Weak transcription	Fetal Kidney	kidney

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