Variant report

Variant	esv3342482
Chromosome Location	chr10:6252450-6252966
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..6246332-chr10:6250640..6253447,3	K562	blood:
3	chr10:6249451..6252477-chr10:6252656..6257901,6	MCF-7	breast:
4	chr10:6242896..6247550-chr10:6249127..6253447,5	K562	blood:
5	chr10:6223792..6226013-chr10:6250745..6253206,2	MCF-7	breast:
6	chr10:6252635..6254396-chr10:6258797..6261104,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170525	chromatin interactions
ENSG00000213994	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189902503	chr10:6252452-6252453	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527369088	chr10:6252456-6252457	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs549029645	chr10:6252471-6252472	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567269678	chr10:6252472-6252473	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149770191	chr10:6252473-6252474	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374580132	chr10:6252477-6252478	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571815453	chr10:6252480-6252481	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538821983	chr10:6252481-6252482	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554327494	chr10:6252482-6252483	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572234585	chr10:6252484-6252485	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199826409	chr10:6252505-6252506	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184017718	chr10:6252511-6252512	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7907736	chr10:6252520-6252521	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7894984	chr10:6252523-6252524	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183533571	chr10:6252528-6252529	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562609481	chr10:6252530-6252531	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12241169	chr10:6252537-6252538	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544911595	chr10:6252561-6252562	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191785661	chr10:6252570-6252571	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113753819	chr10:6252573-6252574	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112474569	chr10:6252587-6252588	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7895104	chr10:6252623-6252624	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs7895111	chr10:6252637-6252638	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7895124	chr10:6252673-6252674	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374358410	chr10:6252687-6252688	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377240254	chr10:6252737-6252738	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs549091077	chr10:6252756-6252757	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560877287	chr10:6252762-6252763	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs531285799	chr10:6252773-6252774	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs550472601	chr10:6252777-6252778	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs199520198	chr10:6252787-6252788	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113562423	chr10:6252823-6252824	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184329764	chr10:6252828-6252829	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540331057	chr10:6252832-6252833	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs113287626	chr10:6252837-6252838	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188240188	chr10:6252862-6252863	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192445556	chr10:6252870-6252871	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs12779252	chr10:6252872-6252873	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113345655	chr10:6252873-6252874	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147749743	chr10:6252878-6252879	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576046933	chr10:6252880-6252881	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537013493	chr10:6252881-6252882	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558898614	chr10:6252884-6252885	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs577890746	chr10:6252886-6252887	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs71485450	chr10:6252887-6252888	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545286923	chr10:6252892-6252893	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56774737	chr10:6252896-6252897	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572231155	chr10:6252905-6252906	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542749188	chr10:6252906-6252907	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs12764718	chr10:6252907-6252908	Weak transcription Enhancers Genic 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:119 , 50 per page) page: 1 2 3

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	chr10:6247000-6253000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:6247000-6253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:6247000-6253200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:6247000-6253200	Weak transcription	Gastric	stomach
10	chr10:6247000-6253200	Weak transcription	Right Atrium	heart
11	chr10:6247000-6253200	Weak transcription	Right Ventricle	heart
12	chr10:6247000-6253400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr10:6247000-6253400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:6247000-6254800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:6247000-6255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:6247000-6255600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:6247000-6255600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:6247000-6255600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:6247000-6255800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr10:6247000-6258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr10:6247000-6280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:6247200-6252800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr10:6247200-6253000	Weak transcription	Fetal Heart	heart
24	chr10:6247200-6253000	Weak transcription	NH-A	brain
25	chr10:6247200-6253200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr10:6247200-6253200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:6247200-6253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:6247200-6253200	Weak transcription	Colon Smooth Muscle	Colon
29	chr10:6247200-6253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:6247200-6253200	Weak transcription	Ovary	ovary
31	chr10:6247200-6253200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:6247200-6253200	Weak transcription	NHLF	lung
33	chr10:6247200-6253400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:6247200-6253400	Weak transcription	Fetal Intestine Small	intestine
35	chr10:6247200-6253400	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:6247200-6253600	Weak transcription	Pancreas	Pancrea
37	chr10:6247200-6253600	Weak transcription	NHDF-Ad	bronchial
38	chr10:6247200-6255000	Weak transcription	Hela-S3	cervix
39	chr10:6247200-6255400	Weak transcription	Liver	Liver
40	chr10:6247200-6255600	Weak transcription	Fetal Thymus	thymus
41	chr10:6247200-6255600	Weak transcription	HUVEC	blood vessel
42	chr10:6247200-6255800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:6247200-6255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:6247200-6281000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr10:6247400-6253000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:6247400-6253000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:6247400-6253000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr10:6247400-6253000	Weak transcription	Fetal Kidney	kidney
49	chr10:6247400-6253000	Weak transcription	HSMM	muscle
50	chr10:6247400-6253400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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