Variant report

Variant	esv2762837
Chromosome Location	chr10:1601101-1630821
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1611586..1613831-chr10:1615924..1618707,2	K562	blood:
2	chr10:1608518..1611071-chr10:1611405..1613582,2	MCF-7	breast:
3	chr10:1592945..1595244-chr10:1605533..1608075,2	K562	blood:
4	chr10:1621538..1624300-chr10:1635695..1637381,2	MCF-7	breast:
5	chr10:1609725..1612525-chr10:1613724..1616167,2	MCF-7	breast:
6	chr10:1609725..1612525-chr10:1613724..1616167,2	MCF-7	breast:
7	chr10:1608518..1611071-chr10:1611405..1613582,2	MCF-7	breast:
8	chr10:1623859..1627288-chr10:1627762..1631705,4	K562	blood:
9	chr10:1623859..1627288-chr10:1627762..1631705,4	K562	blood:
10	chr10:1611586..1613831-chr10:1615924..1618707,2	K562	blood:
11	chr10:1612177..1613177-chr13:114103109..114103829,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000153531	chromatin interactions

Extended variants
information (count: 1311 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1311 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs874673	chr10:1601101-1601102	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569474716	chr10:1601148-1601149	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs369346474	chr10:1601153-1601154	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs538562039	chr10:1601154-1601155	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs576485873	chr10:1601183-1601184	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs555287833	chr10:1601203-1601204	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs545419927	chr10:1601209-1601210	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs542872716	chr10:1601222-1601223	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs562833179	chr10:1601239-1601240	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs373446128	chr10:1601240-1601241	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs555770801	chr10:1601282-1601283	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs115531248	chr10:1601292-1601293	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs79105606	chr10:1601294-1601295	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs575619404	chr10:1601310-1601311	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs10903486	chr10:1601316-1601317	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs10903487	chr10:1601335-1601336	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs576140873	chr10:1601347-1601348	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs541761187	chr10:1601376-1601377	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs561644176	chr10:1601383-1601384	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs371217379	chr10:1601387-1601388	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs530038671	chr10:1601389-1601390	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs546545785	chr10:1601428-1601429	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560395430	chr10:1601433-1601434	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532612728	chr10:1601471-1601472	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530319548	chr10:1601493-1601494	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74121062	chr10:1601498-1601499	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2676739	chr10:1601499-1601500	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35383377	chr10:1601520-1601521	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10794760	chr10:1601551-1601552	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs185531118	chr10:1601589-1601590	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568725881	chr10:1601596-1601597	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533780237	chr10:1601597-1601598	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115048604	chr10:1601694-1601695	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532622549	chr10:1601720-1601721	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146071571	chr10:1601794-1601795	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374908088	chr10:1601816-1601817	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189895217	chr10:1601817-1601818	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148743233	chr10:1601821-1601822	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541576021	chr10:1601841-1601842	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567409913	chr10:1601849-1601850	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182440921	chr10:1601854-1601855	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116135542	chr10:1601878-1601879	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142350766	chr10:1601889-1601890	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4440958	chr10:1601900-1601901	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs12252328	chr10:1601927-1601928	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189150900	chr10:1601949-1601950	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562840872	chr10:1601958-1601959	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191898750	chr10:1601964-1601965	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2813363	chr10:1601990-1601991	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs71482832	chr10:1602044-1602045	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1594600-1601400	Weak transcription	Fetal Thymus	thymus
2	chr10:1594800-1604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:1594800-1604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1595000-1601600	Weak transcription	Right Atrium	heart
5	chr10:1595400-1609200	Weak transcription	Dnd41	blood
6	chr10:1600400-1601600	Weak transcription	Spleen	Spleen
7	chr10:1600800-1602400	Bivalent Enhancer	Fetal Stomach	stomach
8	chr10:1601000-1601200	Enhancers	Brain Cingulate Gyrus	brain
9	chr10:1601000-1601800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:1601000-1602400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr10:1601200-1601600	Enhancers	Brain Anterior Caudate	brain
12	chr10:1601200-1601600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
13	chr10:1601200-1601800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:1601200-1603000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:1601200-1603000	Bivalent Enhancer	Fetal Lung	lung
16	chr10:1601400-1601600	Bivalent Enhancer	Fetal Heart	heart
17	chr10:1601400-1601800	Enhancers	Fetal Thymus	thymus
18	chr10:1601400-1602000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr10:1601600-1601800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:1601600-1601800	Bivalent Enhancer	Brain Anterior Caudate	brain
21	chr10:1601600-1601800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
22	chr10:1601600-1601800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr10:1601600-1601800	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr10:1601600-1601800	Bivalent Enhancer	Left Ventricle	heart
25	chr10:1601600-1601800	Enhancers	Spleen	Spleen
26	chr10:1601600-1602000	Enhancers	Right Atrium	heart
27	chr10:1601600-1602200	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr10:1601800-1610000	Weak transcription	Fetal Thymus	thymus
29	chr10:1601800-1613800	Weak transcription	Spleen	Spleen
30	chr10:1602400-1602600	Bivalent Enhancer	Fetal Heart	heart
31	chr10:1602600-1603000	Enhancers	Fetal Heart	heart
32	chr10:1602600-1603200	Enhancers	Primary B cells from cord blood	blood
33	chr10:1602600-1603200	Enhancers	GM12878-XiMat	blood
34	chr10:1602800-1603200	Enhancers	Primary B cells from peripheral blood	blood
35	chr10:1604200-1604800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:1604800-1605600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:1604800-1611000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:1605600-1611200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:1605600-1613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:1607200-1607400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:1607400-1613800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:1609200-1610600	Enhancers	Dnd41	blood
43	chr10:1609400-1609600	Enhancers	Pancreas	Pancrea
44	chr10:1609600-1617200	Weak transcription	Primary B cells from cord blood	blood
45	chr10:1609800-1610000	Weak transcription	Pancreas	Pancrea
46	chr10:1610000-1610600	Enhancers	Fetal Thymus	thymus
47	chr10:1610600-1612400	Weak transcription	Dnd41	blood
48	chr10:1610600-1612600	Weak transcription	Fetal Thymus	thymus
49	chr10:1610800-1611000	Weak transcription	Primary T cells from cord blood	blood
50	chr10:1611000-1611600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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