Variant report

Variant	esv3416716
Chromosome Location	chr10:22935427-22935935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22925155..22927609-chr10:22932806..22936135,4	K562	blood:
2	chr10:22932937..22936248-chr10:23002444..23005154,3	K562	blood:
3	chr10:22928174..22930597-chr10:22933685..22936850,3	K562	blood:

Variant related genes	Relation type
ENSG00000150867	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541342320	chr10:22935475-22935476	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566354957	chr10:22935483-22935484	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1750777	chr10:22935495-22935496	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114911983	chr10:22935551-22935552	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77012628	chr10:22935554-22935555	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374289267	chr10:22935559-22935560	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570369230	chr10:22935573-22935574	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372062922	chr10:22935586-22935587	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555907840	chr10:22935589-22935590	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576160254	chr10:22935598-22935599	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111445761	chr10:22935601-22935602	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555523331	chr10:22935674-22935675	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61219681	chr10:22935742-22935743	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541025604	chr10:22935755-22935756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558492435	chr10:22935829-22935830	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367637099	chr10:22935830-22935831	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs67639161	chr10:22935849-22935850	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113890244	chr10:22935861-22935862	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371387574	chr10:22935863-22935864	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs578242839	chr10:22935874-22935875	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544064737	chr10:22935882-22935883	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563851414	chr10:22935887-22935888	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569143064	chr10:22935888-22935889	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192648193	chr10:22935892-22935893	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78953090	chr10:22935896-22935897	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs79849693	chr10:22935897-22935898	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75819759	chr10:22935900-22935901	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22915000-22951800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:22915200-22935600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:22915200-22936200	Weak transcription	Psoas Muscle	Psoas
4	chr10:22920000-22936400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr10:22921000-22940400	Weak transcription	Ovary	ovary
6	chr10:22923000-22937600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:22923200-22936200	Weak transcription	Esophagus	oesophagus
8	chr10:22926000-22938600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:22926800-22936200	Weak transcription	HSMMtube	muscle
10	chr10:22927000-22936200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:22927000-22936200	Weak transcription	Right Ventricle	heart
12	chr10:22927800-22942800	Enhancers	Brain Anterior Caudate	brain
13	chr10:22929200-22938600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:22929600-22935600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr10:22929600-22948400	Enhancers	Brain Cingulate Gyrus	brain
16	chr10:22929800-22939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:22930400-22938600	Enhancers	Brain Hippocampus Middle	brain
18	chr10:22931200-22936200	Weak transcription	Left Ventricle	heart
19	chr10:22931200-22938400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:22931200-22938400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:22931600-22941000	Enhancers	Brain Angular Gyrus	brain
22	chr10:22931800-22937000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:22932200-22935600	Weak transcription	Fetal Lung	lung
24	chr10:22932200-22936200	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:22932200-22936400	Weak transcription	NHLF	lung
26	chr10:22932400-22940400	Enhancers	Fetal Thymus	thymus
27	chr10:22932400-22944200	Weak transcription	Brain Germinal Matrix	brain
28	chr10:22932800-22936000	Weak transcription	Liver	Liver
29	chr10:22933000-22935600	Weak transcription	Primary B cells from cord blood	blood
30	chr10:22933200-22936200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:22933200-22936200	Weak transcription	Gastric	stomach
32	chr10:22933200-22936600	Weak transcription	Aorta	Aorta
33	chr10:22933200-22936800	Weak transcription	Stomach Mucosa	stomach
34	chr10:22933400-22936600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:22933400-22937400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr10:22933600-22936000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:22933600-22936200	Weak transcription	Lung	lung
38	chr10:22933600-22936200	Weak transcription	Pancreas	Pancrea
39	chr10:22933600-22936200	Weak transcription	Right Atrium	heart
40	chr10:22933600-22936200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr10:22933600-22936200	Weak transcription	Spleen	Spleen
42	chr10:22933600-22936400	Enhancers	K562	blood
43	chr10:22933600-22938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:22933600-22944200	Weak transcription	Fetal Stomach	stomach
45	chr10:22934000-22936400	Weak transcription	Small Intestine	intestine
46	chr10:22934600-22936800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:22934800-22935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:22934800-22936400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr10:22934800-22937800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr10:22934800-22939400	Enhancers	Dnd41	blood

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