Variant report

Variant	esv3371335
Chromosome Location	chr10:6250546-6254844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6242896..6246332-chr10:6250640..6253447,3	K562	blood:
2	chr10:6248376..6251370-chr10:6442992..6444968,2	MCF-7	breast:
3	chr10:6131719..6134216-chr10:6253022..6254903,2	MCF-7	breast:
4	chr10:6249765..6251465-chr10:6254272..6257150,3	MCF-7	breast:
5	chr10:6242896..6247550-chr10:6249127..6253447,5	K562	blood:
6	chr10:6253749..6256671-chr10:6278525..6281459,3	MCF-7	breast:
7	chr10:6252635..6254396-chr10:6258797..6261104,2	MCF-7	breast:
8	chr10:6249765..6251465-chr10:6254272..6257150,3	MCF-7	breast:
9	chr10:6249507..6251896-chr10:6339799..6342783,2	MCF-7	breast:
10	chr10:6249451..6252477-chr10:6252656..6257901,6	MCF-7	breast:
11	chr10:6248444..6251351-chr10:6433418..6435285,2	MCF-7	breast:
12	chr10:6254275..6256496-chr10:6272419..6274768,2	MCF-7	breast:
13	chr10:6249167..6251248-chr10:6254814..6257329,2	K562	blood:
14	chr10:6223792..6226013-chr10:6250745..6253206,2	MCF-7	breast:
15	chr10:6249167..6251248-chr10:6254814..6257329,2	K562	blood:
16	chr10:6249451..6252477-chr10:6252656..6257901,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170525	chromatin interactions
ENSG00000213994	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11816550	chr10:6250548-6250549	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11816551	chr10:6250550-6250551	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562927482	chr10:6250642-6250643	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528546746	chr10:6250646-6250647	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377233272	chr10:6250656-6250657	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs75007288	chr10:6250660-6250661	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546473453	chr10:6250731-6250732	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76915623	chr10:6250742-6250743	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528639635	chr10:6250767-6250768	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186494450	chr10:6250800-6250801	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77845948	chr10:6250805-6250806	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529393189	chr10:6250827-6250828	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551025443	chr10:6250868-6250869	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569274768	chr10:6250881-6250882	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140645404	chr10:6250906-6250907	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558772067	chr10:6250912-6250913	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs114513584	chr10:6250932-6250933	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534786008	chr10:6250933-6250934	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552806917	chr10:6250941-6250942	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189625337	chr10:6250964-6250965	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145553102	chr10:6250980-6250981	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs114856072	chr10:6251007-6251008	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574884589	chr10:6251031-6251032	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529581670	chr10:6251050-6251051	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113800954	chr10:6251057-6251058	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368629696	chr10:6251072-6251073	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs564773662	chr10:6251127-6251128	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112438459	chr10:6251158-6251159	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372318034	chr10:6251164-6251165	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142048639	chr10:6251177-6251178	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529457445	chr10:6251192-6251193	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551088753	chr10:6251197-6251198	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569286658	chr10:6251242-6251243	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs182268854	chr10:6251244-6251245	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533308637	chr10:6251251-6251252	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2516614	chr10:6251252-6251253	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570689808	chr10:6251263-6251264	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145835596	chr10:6251268-6251269	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs546418883	chr10:6251272-6251273	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs76536056	chr10:6251332-6251333	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577661082	chr10:6251334-6251335	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs535213782	chr10:6251368-6251369	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs114539767	chr10:6251369-6251370	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187600480	chr10:6251375-6251376	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11257289	chr10:6251407-6251408	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557451917	chr10:6251421-6251422	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs144379584	chr10:6251436-6251437	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs59104402	chr10:6251446-6251447	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs377597098	chr10:6251447-6251448	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573507444	chr10:6251458-6251459	Weak transcription Genic enhancers Flanking Active TSS Enhancers 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:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr10:6247000-6250600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr10:6247000-6252200	Weak transcription	Fetal Stomach	stomach
8	chr10:6247000-6253000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:6247000-6253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:6247000-6253200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:6247000-6253200	Weak transcription	Gastric	stomach
12	chr10:6247000-6253200	Weak transcription	Right Atrium	heart
13	chr10:6247000-6253200	Weak transcription	Right Ventricle	heart
14	chr10:6247000-6253400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:6247000-6253400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:6247000-6254800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:6247000-6255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr10:6247000-6255600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:6247000-6255600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr10:6247000-6255600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr10:6247000-6255800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:6247000-6258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr10:6247000-6280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:6247200-6250800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:6247200-6250800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:6247200-6250800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:6247200-6252800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:6247200-6253000	Weak transcription	Fetal Heart	heart
29	chr10:6247200-6253000	Weak transcription	NH-A	brain
30	chr10:6247200-6253200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr10:6247200-6253200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:6247200-6253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:6247200-6253200	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:6247200-6253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:6247200-6253200	Weak transcription	Ovary	ovary
36	chr10:6247200-6253200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:6247200-6253200	Weak transcription	NHLF	lung
38	chr10:6247200-6253400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr10:6247200-6253400	Weak transcription	Fetal Intestine Small	intestine
40	chr10:6247200-6253400	Weak transcription	Fetal Muscle Leg	muscle
41	chr10:6247200-6253600	Weak transcription	Pancreas	Pancrea
42	chr10:6247200-6253600	Weak transcription	NHDF-Ad	bronchial
43	chr10:6247200-6255000	Weak transcription	Hela-S3	cervix
44	chr10:6247200-6255400	Weak transcription	Liver	Liver
45	chr10:6247200-6255600	Weak transcription	Fetal Thymus	thymus
46	chr10:6247200-6255600	Weak transcription	HUVEC	blood vessel
47	chr10:6247200-6255800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr10:6247200-6255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:6247200-6281000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr10:6247400-6250600	Weak transcription	Brain Germinal Matrix	brain

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