Variant report

Variant	esv3462729
Chromosome Location	chr10:6169404-6169680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6164842..6170645-chr10:6170879..6175262,7	K562	blood:
2	chr10:6168287..6170696-chr10:6258777..6261462,2	MCF-7	breast:
3	chr10:6168583..6171186-chr10:6243382..6246451,4	MCF-7	breast:
4	chr10:6167871..6170657-chr10:6186915..6188419,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL2RA-2	chr10:6169367-6169553	ENSG00000232547.1

Variant related genes	Relation type
ENSG00000213994	chromatin interactions
ENSG00000170525	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78631702	chr10:6169409-6169410	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs28396207	chr10:6169456-6169457	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs7893411	chr10:6169500-6169501	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs10795836	chr10:6169513-6169514	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs10795837	chr10:6169514-6169515	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs10905864	chr10:6169520-6169521	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs9663877	chr10:6169544-6169545	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs71390187	chr10:6169566-6169567	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs386420658	chr10:6169576-6169577	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545003214	chr10:6169585-6169586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs9664213	chr10:6169588-6169589	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61839696	chr10:6169601-6169602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs61313048	chr10:6169602-6169603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs60707424	chr10:6169606-6169607	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs9663473	chr10:6169610-6169611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9663896	chr10:6169632-6169633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575124837	chr10:6169636-6169637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs386508563	chr10:6169646-6169647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7906349	chr10:6169648-6169649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6157000-6170800	Weak transcription	Gastric	stomach
2	chr10:6157600-6170400	Weak transcription	Lung	lung
3	chr10:6157600-6170400	Weak transcription	Thymus	Thymus
4	chr10:6157600-6171000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:6157600-6172000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:6157800-6170800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:6158600-6170200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:6158600-6170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:6159000-6170400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr10:6159000-6170800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:6159200-6170400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr10:6159200-6170400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr10:6159200-6170400	Weak transcription	NH-A	brain
14	chr10:6159200-6170600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:6159200-6170600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:6159200-6170600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:6159400-6170200	Weak transcription	Primary T cells from cord blood	blood
18	chr10:6159400-6172000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:6160000-6170200	Weak transcription	Fetal Thymus	thymus
20	chr10:6161800-6170200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:6161800-6170400	Weak transcription	Left Ventricle	heart
22	chr10:6162600-6170200	Weak transcription	Right Ventricle	heart
23	chr10:6163000-6170400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:6163000-6170400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:6163000-6171200	Weak transcription	Esophagus	oesophagus
26	chr10:6163200-6170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:6163200-6170200	Weak transcription	NHLF	lung
28	chr10:6165800-6170600	Weak transcription	HSMMtube	muscle
29	chr10:6166200-6170200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:6167000-6169800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:6167000-6170000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:6167000-6170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:6167000-6170400	Weak transcription	Right Atrium	heart
34	chr10:6167000-6170400	Weak transcription	NHDF-Ad	bronchial
35	chr10:6167000-6170400	Weak transcription	NHEK	skin
36	chr10:6167000-6171000	Weak transcription	HUVEC	blood vessel
37	chr10:6167000-6172000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:6167200-6170200	Weak transcription	Brain Substantia Nigra	brain
39	chr10:6167200-6170200	Weak transcription	Fetal Heart	heart
40	chr10:6167200-6170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr10:6167200-6170400	Weak transcription	K562	blood
42	chr10:6167400-6169800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:6167400-6170200	Weak transcription	Adipose Nuclei	Adipose
44	chr10:6167400-6170200	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:6167400-6170600	Weak transcription	Brain Anterior Caudate	brain
46	chr10:6167600-6170000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:6167600-6170400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr10:6167600-6170800	Enhancers	Ovary	ovary
49	chr10:6167600-6172200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:6167600-6174800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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