Variant report

Variant	nsv519864
Chromosome Location	chr10:99478081-99486644
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99477514..99480441-chr10:99495281..99497954,2	MCF-7	breast:
2	chr10:99453167..99456085-chr10:99480960..99483700,2	MCF-7	breast:
3	chr10:99445462..99447527-chr10:99483205..99486633,3	MCF-7	breast:
4	chr10:99476839..99480454-chr10:99481730..99484335,3	K562	blood:
5	chr10:99444102..99447131-chr10:99475724..99478855,3	MCF-7	breast:
6	chr10:99476464..99480454-chr10:99480682..99484335,5	K562	blood:
7	chr10:99476839..99480454-chr10:99481730..99484335,3	K562	blood:
8	chr10:99477505..99481349-chr10:99484055..99486700,3	MCF-7	breast:
9	chr10:99474184..99474793-chr10:99486201..99486865,2	Hela-S3	cervix:
10	chr10:99443080..99453237-chr10:99471420..99478243,12	MCF-7	breast:
11	chr10:99477505..99481349-chr10:99484055..99486700,3	MCF-7	breast:
12	chr10:99482033..99484147-chr10:99490073..99491810,2	MCF-7	breast:
13	chr10:99482956..99487048-chr10:99495082..99498802,5	MCF-7	breast:
14	chr10:99446352..99448545-chr10:99478274..99479924,2	MCF-7	breast:
15	chr10:99442496..99444028-chr10:99483468..99485995,2	MCF-7	breast:
16	chr10:99476464..99480454-chr10:99480682..99484335,5	K562	blood:
17	chr10:99401337..99403693-chr10:99478235..99480260,2	MCF-7	breast:
18	chr10:99470365..99472980-chr10:99481992..99484603,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119986	chromatin interactions
ENSG00000155254	chromatin interactions
ENSG00000155256	chromatin interactions

Extended variants
information (count: 330 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6584149	chr10:99478081-99478082	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190008939	chr10:99478105-99478106	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544362289	chr10:99478170-99478171	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181922014	chr10:99478178-99478179	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550444054	chr10:99478210-99478211	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562369787	chr10:99478221-99478222	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560895147	chr10:99478226-99478227	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12415837	chr10:99478230-99478231	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370629373	chr10:99478237-99478238	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548678066	chr10:99478239-99478240	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140813976	chr10:99478245-99478246	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534297526	chr10:99478280-99478281	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546565281	chr10:99478381-99478382	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552645814	chr10:99478438-99478439	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560476633	chr10:99478439-99478440	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538569270	chr10:99478447-99478448	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556869518	chr10:99478467-99478468	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574995112	chr10:99478497-99478498	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535636780	chr10:99478537-99478538	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142833270	chr10:99478573-99478574	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11813264	chr10:99478588-99478589	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11818879	chr10:99478594-99478595	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144597591	chr10:99478596-99478597	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113134111	chr10:99478598-99478599	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201328517	chr10:99478599-99478600	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572896766	chr10:99478622-99478623	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539928739	chr10:99478645-99478646	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs74152024	chr10:99478653-99478654	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576406574	chr10:99478660-99478661	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544121291	chr10:99478667-99478668	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562408915	chr10:99478672-99478673	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554435430	chr10:99478673-99478674	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374918473	chr10:99478694-99478695	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541705559	chr10:99478737-99478738	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560286030	chr10:99478739-99478740	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186532088	chr10:99478771-99478772	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572812104	chr10:99478780-99478781	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs147407856	chr10:99478803-99478804	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532097537	chr10:99478814-99478815	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs531705401	chr10:99478890-99478891	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564925864	chr10:99478894-99478895	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550507090	chr10:99478912-99478913	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374078609	chr10:99478947-99478948	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11598998	chr10:99478982-99478983	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540967060	chr10:99478983-99478984	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs72835965	chr10:99479032-99479033	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554109836	chr10:99479037-99479038	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs566245927	chr10:99479082-99479083	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537959927	chr10:99479087-99479088	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533668763	chr10:99479090-99479091	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16912164	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99473800-99479000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:99475000-99479400	Weak transcription	Fetal Kidney	kidney
3	chr10:99475200-99478200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:99475200-99478200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:99475200-99478200	Weak transcription	Pancreas	Pancrea
6	chr10:99475800-99478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:99475800-99479200	Genic enhancers	Colon Smooth Muscle	Colon
8	chr10:99476000-99478400	Weak transcription	HSMMtube	muscle
9	chr10:99476000-99478800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:99476000-99479600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:99476000-99479600	Genic enhancers	Fetal Muscle Leg	muscle
12	chr10:99476000-99479600	Genic enhancers	Fetal Stomach	stomach
13	chr10:99476200-99479200	Genic enhancers	NHLF	lung
14	chr10:99476200-99479600	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr10:99476200-99486600	Weak transcription	Ovary	ovary
16	chr10:99476400-99478200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:99476400-99478400	Strong transcription	Fetal Lung	lung
18	chr10:99476400-99478600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr10:99476400-99478600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:99476400-99479600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:99476600-99478200	Genic enhancers	HMEC	breast
22	chr10:99476600-99478200	Genic enhancers	NHEK	skin
23	chr10:99476600-99478400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:99476600-99478600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:99476600-99479000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:99476600-99479000	Genic enhancers	NHDF-Ad	bronchial
27	chr10:99476600-99479200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:99476600-99479600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:99476600-99479800	Strong transcription	Osteobl	bone
30	chr10:99476600-99486200	Weak transcription	HUVEC	blood vessel
31	chr10:99476800-99478400	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr10:99477000-99478200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr10:99477000-99478200	Genic enhancers	Placenta	Placenta
34	chr10:99477000-99478400	Strong transcription	Dnd41	blood
35	chr10:99477000-99479000	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr10:99477000-99479000	Enhancers	Left Ventricle	heart
37	chr10:99477000-99479200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:99477000-99479600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:99477000-99480400	Enhancers	Colonic Mucosa	Colon
40	chr10:99477200-99478200	Enhancers	Brain Angular Gyrus	brain
41	chr10:99477200-99478600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr10:99477200-99479200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr10:99477200-99479600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:99477200-99479600	Enhancers	Stomach Mucosa	stomach
45	chr10:99477200-99479600	Enhancers	K562	blood
46	chr10:99477200-99486200	Weak transcription	NH-A	brain
47	chr10:99477400-99478200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:99477400-99478200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:99477400-99478200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:99477400-99478200	Enhancers	Brain Inferior Temporal Lobe	brain

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