Variant report

Variant	esv3318341
Chromosome Location	chr10:91466772-91471270
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	chr10:91463828..91466884-chr10:91467056..91470344,3	MCF-7	breast:
2	chr10:91403362..91406467-chr10:91470802..91475133,4	MCF-7	breast:
3	chr10:91385865..91388644-chr10:91465383..91467625,2	K562	blood:
4	chr10:91403552..91405142-chr10:91465517..91468857,3	MCF-7	breast:
5	chr10:91463828..91466884-chr10:91467056..91470344,3	MCF-7	breast:
6	chr10:91469218..91474577-chr10:91475007..91479168,10	K562	blood:
7	chr10:91459480..91461460-chr10:91471193..91472888,2	MCF-7	breast:
8	chr10:91460192..91463892-chr10:91466446..91468629,3	MCF-7	breast:
9	chr10:91340078..91341868-chr10:91467795..91469840,2	K562	blood:
10	chr10:91466826..91469157-chr10:91471735..91473882,2	K562	blood:
11	chr10:91458034..91463117-chr10:91466111..91469276,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249962	chromatin interactions
ENSG00000232936	chromatin interactions
ENSG00000138182	chromatin interactions
ENSG00000152782	chromatin interactions
ENSG00000235100	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs78160616	chr10:91466856-91466857	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs546176847	chr10:91466880-91466881	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs75723564	chr10:91466926-91466927	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs566175583	chr10:91466938-91466939	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs535132677	chr10:91466982-91466983	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs548679568	chr10:91467052-91467053	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs569002822	chr10:91467071-91467072	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs115108439	chr10:91467074-91467075	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs199548462	chr10:91467077-91467078	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs557960895	chr10:91467105-91467106	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs181294837	chr10:91467125-91467126	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs534124001	chr10:91467237-91467238	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs564453002	chr10:91467249-91467250	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs567417821	chr10:91467265-91467266	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs577311850	chr10:91467266-91467267	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs371592027	chr10:91467273-91467274	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs398014400	chr10:91467274-91467275	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs185414709	chr10:91467288-91467289	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs574091473	chr10:91467293-91467294	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs543109348	chr10:91467396-91467397	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs576534390	chr10:91467407-91467408	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs147231284	chr10:91467482-91467483	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs369456948	chr10:91467486-91467487	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs116441746	chr10:91467490-91467491	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs576507411	chr10:91467547-91467548	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs148595872	chr10:91467575-91467576	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs565513043	chr10:91467631-91467632	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs78666912	chr10:91467632-91467633	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs547689894	chr10:91467662-91467663	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs559680828	chr10:91467677-91467678	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs528543759	chr10:91467680-91467681	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs189243855	chr10:91467767-91467768	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs549036888	chr10:91467838-91467839	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs10881628	chr10:91467865-91467866	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs10881629	chr10:91467895-91467896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs551278200	chr10:91467960-91467961	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs11185847	chr10:91467969-91467970	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35028648	chr10:91467972-91467973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs534037937	chr10:91467980-91467981	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs79030388	chr10:91467985-91467986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs79889533	chr10:91467986-91467987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs554121961	chr10:91468011-91468012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs538334652	chr10:91468027-91468028	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs180782884	chr10:91468048-91468049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs574054782	chr10:91468049-91468050	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs536625618	chr10:91468088-91468089	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs556552144	chr10:91468097-91468098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs529423343	chr10:91468151-91468152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs545530047	chr10:91468152-91468153	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs187191375	chr10:91468213-91468214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91461600-91546600	Weak transcription	Small Intestine	intestine
2	chr10:91461800-91505800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:91462000-91505800	Weak transcription	Left Ventricle	heart
4	chr10:91462200-91467000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr10:91462200-91467200	Weak transcription	Fetal Brain Male	brain
6	chr10:91462200-91470000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:91462200-91470000	Weak transcription	Ovary	ovary
8	chr10:91462200-91472000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:91462200-91474000	Weak transcription	Spleen	Spleen
10	chr10:91462200-91476600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:91462200-91476600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr10:91462200-91476600	Weak transcription	Fetal Intestine Large	intestine
13	chr10:91462200-91477600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:91462200-91478000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:91462200-91480400	Weak transcription	Fetal Stomach	stomach
16	chr10:91462200-91480600	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:91462200-91482400	Weak transcription	Pancreas	Pancrea
18	chr10:91462200-91486400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:91462200-91505600	Weak transcription	Esophagus	oesophagus
20	chr10:91462200-91505800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:91462200-91505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:91462200-91505800	Weak transcription	Gastric	stomach
23	chr10:91462200-91505800	Weak transcription	Lung	lung
24	chr10:91462400-91467000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:91462400-91472000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:91462400-91476000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:91462400-91477600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:91462400-91479200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:91462400-91480000	Weak transcription	Fetal Kidney	kidney
30	chr10:91462400-91480600	Weak transcription	Primary T cells from cord blood	blood
31	chr10:91462400-91480600	Weak transcription	Fetal Intestine Small	intestine
32	chr10:91462400-91484600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr10:91462400-91488600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr10:91462400-91505600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:91462600-91470200	Weak transcription	HSMM	muscle
36	chr10:91462600-91471600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr10:91462600-91472000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr10:91462600-91475800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr10:91462600-91477600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:91462800-91469600	Weak transcription	Fetal Lung	lung
41	chr10:91462800-91475800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr10:91462800-91476600	Weak transcription	Primary B cells from cord blood	blood
43	chr10:91463000-91472000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:91463200-91470600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr10:91463200-91477600	Weak transcription	NH-A	brain
46	chr10:91463400-91470000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:91463400-91470600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:91463400-91471600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:91463400-91476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:91463400-91480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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