Variant report

Variant	esv1847300
Chromosome Location	chr10:94660133-94670849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:94663072-94663981	HepG2	liver:	n/a	n/a
2	ATF2	chr10:94661632-94662093	GM12878	blood:	n/a	n/a
3	ATF2	chr10:94661764-94662126	GM12878	blood:	n/a	n/a
4	BACH1	chr10:94660700-94660714	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr10:94661662-94661961	GM12878	blood:	n/a	n/a
6	BCLAF1	chr10:94661722-94662043	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:94661634-94662013	GM12878	blood:	n/a	n/a
8	CHD2	chr10:94661583-94662054	GM12878	blood:	n/a	n/a
9	EBF1	chr10:94661730-94662008	GM12878	blood:	n/a	n/a
10	EP300	chr10:94661675-94662059	GM12878	blood:	n/a	n/a
11	EP300	chr10:94661707-94662000	GM12878	blood:	n/a	n/a
12	EP300	chr10:94661648-94662076	GM12878	blood:	n/a	n/a
13	FOXA1	chr10:94663094-94663862	HepG2	liver:	n/a	n/a
14	FOXA1	chr10:94663246-94663829	HepG2	liver:	n/a	n/a
15	FOXA1	chr10:94663377-94663762	HepG2	liver:	n/a	n/a
16	FOXA1	chr10:94662130-94662497	T-47D	breast:	n/a	n/a
17	FOXA1	chr10:94663412-94663657	T-47D	breast:	n/a	n/a
18	FOXA2	chr10:94663010-94664101	HepG2	liver:	n/a	n/a
19	FOXA2	chr10:94663422-94663746	HepG2	liver:	n/a	n/a
20	FOXM1	chr10:94661643-94662148	GM12878	blood:	n/a	n/a
21	GATA3	chr10:94663142-94663342	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr10:94662011-94662647	MCF-7	breast:	n/a	n/a
23	IRF1	chr10:94662555-94662728	K562	blood:	n/a	n/a
24	IRF4	chr10:94661576-94662028	GM12878	blood:	n/a	n/a
25	JUND	chr10:94665832-94665910	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFF	chr10:94666152-94666378	HepG2	liver:	n/a	n/a
27	MAFK	chr10:94666113-94666416	IMR90	lung:	n/a	n/a
28	MAFK	chr10:94666126-94666328	HepG2	liver:	n/a	n/a
29	MAFK	chr10:94666104-94666420	HepG2	liver:	n/a	n/a
30	MAZ	chr10:94661791-94662042	GM12878	blood:	n/a	n/a
31	MEF2A	chr10:94661702-94661999	GM12878	blood:	n/a	chr10:94661791-94661799
32	MTA3	chr10:94661542-94662078	GM12878	blood:	n/a	n/a
33	MXI1	chr10:94661710-94662039	GM12878	blood:	n/a	n/a
34	MYBL2	chr10:94663295-94663779	HepG2	liver:	n/a	n/a
35	NFATC1	chr10:94661681-94662136	GM12878	blood:	n/a	n/a
36	NFIC	chr10:94661558-94662180	GM12878	blood:	n/a	n/a
37	NFIC	chr10:94663228-94663803	HepG2	liver:	n/a	n/a
38	NFIC	chr10:94661675-94662146	GM12878	blood:	n/a	n/a
39	PAX5	chr10:94661619-94662028	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:94664372-94664573	K562	blood:	n/a	n/a
41	POLR2A	chr10:94667162-94667246	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr10:94667549-94667586	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr10:94668016-94668104	A549	lung:	n/a	n/a
44	POLR2A	chr10:94669206-94669245	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr10:94662391-94662494	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr10:94663359-94663558	K562	blood:	n/a	n/a
47	RCOR1	chr10:94661702-94662059	GM12878	blood:	n/a	n/a
48	RUNX3	chr10:94661609-94662149	GM12878	blood:	n/a	n/a
49	RUNX3	chr10:94661522-94662206	GM12878	blood:	n/a	n/a
50	SETDB1	chr10:94665207-94665787	U2OS	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:94653732..94656423-chr10:94657725..94660166,2	K562	blood:
2	chr10:94654369..94656417-chr10:94660704..94662374,2	K562	blood:
3	chr10:94657045..94660020-chr10:94660295..94662029,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP26C1-1	chr10:94669241-94669388	NONHSAT015674

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EXOC6	hsa-miR-31-5p	chr10:94661031-94661052

Variant related genes	Relation type
EXOC6	TF binding region

Extended variants
information (count: 366 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17377483	chr10:94660133-94660134	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558312071	chr10:94660187-94660188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567042076	chr10:94660212-94660213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181894745	chr10:94660265-94660266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187195181	chr10:94660314-94660315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544396419	chr10:94660347-94660348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7915463	chr10:94660409-94660410	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375836792	chr10:94660412-94660413	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544235557	chr10:94660428-94660429	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116661760	chr10:94660429-94660430	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397948008	chr10:94660432-94660433	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191986634	chr10:94660478-94660479	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546069485	chr10:94660516-94660517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377064826	chr10:94660616-94660617	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376539176	chr10:94660631-94660632	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149633525	chr10:94660654-94660655	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs118125680	chr10:94660680-94660681	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7918909	chr10:94660689-94660690	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs561780634	chr10:94660725-94660726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147330354	chr10:94660738-94660739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74548164	chr10:94660741-94660742	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576653215	chr10:94660865-94660866	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61862267	chr10:94660883-94660884	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547278068	chr10:94660937-94660938	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371034777	chr10:94660939-94660940	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182661800	chr10:94660968-94660969	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140674654	chr10:94660985-94660986	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144622505	chr10:94661002-94661003	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61862268	chr10:94661033-94661034	Weak transcription Enhancers Strong transcription	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs367616336	chr10:94661049-94661050	Weak transcription Enhancers Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
31	rs367749522	chr10:94661059-94661060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371612516	chr10:94661079-94661080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7095772	chr10:94661093-94661094	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6583846	chr10:94661130-94661131	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373424114	chr10:94661168-94661169	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35908515	chr10:94661185-94661186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537292608	chr10:94661198-94661199	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550751296	chr10:94661200-94661201	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553253643	chr10:94661231-94661232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573138767	chr10:94661238-94661239	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372627627	chr10:94661285-94661286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549846022	chr10:94661376-94661377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12767078	chr10:94661390-94661391	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61862269	chr10:94661412-94661413	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561841425	chr10:94661430-94661431	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186031598	chr10:94661448-94661449	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189996541	chr10:94661484-94661485	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201568137	chr10:94661529-94661530	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79373402	chr10:94661530-94661531	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544312814	chr10:94661573-94661574	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	21364760	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
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
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94647800-94661400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr10:94650800-94661200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr10:94652400-94660200	Weak transcription	Spleen	Spleen
4	chr10:94652400-94661200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr10:94652400-94672600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:94652400-94674200	Weak transcription	Psoas Muscle	Psoas
7	chr10:94652400-94681000	Weak transcription	Fetal Stomach	stomach
8	chr10:94652400-94717400	Weak transcription	Esophagus	oesophagus
9	chr10:94652600-94663800	Weak transcription	Liver	Liver
10	chr10:94652600-94664000	Weak transcription	Small Intestine	intestine
11	chr10:94652600-94667000	Weak transcription	Pancreas	Pancrea
12	chr10:94652600-94669600	Weak transcription	Left Ventricle	heart
13	chr10:94652600-94680000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:94652600-94680000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:94652600-94680200	Weak transcription	Brain Anterior Caudate	brain
16	chr10:94652600-94688800	Weak transcription	Placenta	Placenta
17	chr10:94652600-94712400	Weak transcription	Brain Angular Gyrus	brain
18	chr10:94652600-94718000	Weak transcription	Ovary	ovary
19	chr10:94652600-94742400	Weak transcription	HSMMtube	muscle
20	chr10:94652800-94666800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:94652800-94671200	Weak transcription	Fetal Heart	heart
22	chr10:94652800-94706600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:94653000-94669800	Weak transcription	Hela-S3	cervix
24	chr10:94653200-94662200	Weak transcription	HepG2	liver
25	chr10:94653200-94725200	Weak transcription	Fetal Lung	lung
26	chr10:94653400-94730200	Weak transcription	Fetal Brain Male	brain
27	chr10:94654000-94662200	Strong transcription	HUVEC	blood vessel
28	chr10:94654400-94660600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr10:94654600-94680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:94654600-94714600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:94655000-94660800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:94655000-94673200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr10:94655000-94680200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:94655200-94661400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:94655200-94667000	Weak transcription	Fetal Intestine Large	intestine
36	chr10:94655200-94680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr10:94655200-94689200	Weak transcription	Brain Germinal Matrix	brain
38	chr10:94655400-94672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:94655600-94661400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr10:94655600-94667800	Weak transcription	Fetal Intestine Small	intestine
41	chr10:94655600-94688800	Weak transcription	Fetal Thymus	thymus
42	chr10:94656200-94660200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr10:94656400-94680600	Weak transcription	Fetal Kidney	kidney
44	chr10:94656800-94674000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr10:94657200-94661000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr10:94657200-94680200	Weak transcription	Adipose Nuclei	Adipose
47	chr10:94657400-94661200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr10:94657400-94673800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:94657800-94660200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:94657800-94660800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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