Variant report

Variant	esv3392154
Chromosome Location	chr9:140388181-140390679
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140386446..140388269-chr9:140413186..140415741,2	K562	blood:
2	chr9:140304848..140306360-chr9:140385866..140388682,2	K562	blood:
3	chr9:140189560..140193480-chr9:140384679..140388476,4	K562	blood:
4	chr9:140347395..140351065-chr9:140385610..140390076,3	K562	blood:
5	chr9:140385694..140388620-chr9:140402959..140406743,3	K562	blood:
6	chr9:140390425..140392825-chr9:140393171..140396140,3	MCF-7	breast:
7	chr9:140386948..140388697-chr9:140392621..140394758,2	K562	blood:
8	chr9:140355725..140357240-chr9:140385390..140388277,2	K562	blood:
9	chr9:140366440..140369385-chr9:140386495..140388983,2	K562	blood:
10	chr9:140353788..140359040-chr9:140385385..140389520,8	K562	blood:
11	chr9:140347395..140349788-chr9:140384770..140388598,3	K562	blood:
12	chr9:140388746..140391372-chr9:140393329..140396461,4	K562	blood:
13	chr9:140385364..140389907-chr9:140391534..140397085,5	MCF-7	breast:
14	chr9:140385373..140390339-chr9:140393084..140398390,8	MCF-7	breast:
15	chr9:140374712..140376719-chr9:140389156..140391051,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130653	chromatin interactions
ENSG00000165802	chromatin interactions
ENSG00000260996	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs564534018	chr9:140388181-140388182	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527841796	chr9:140388206-140388207	ZNF genes & repeats Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537533329	chr9:140388223-140388224	ZNF genes & repeats Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544165986	chr9:140388373-140388374	ZNF genes & repeats Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183600697	chr9:140388410-140388411	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76363557	chr9:140388436-140388437	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549607273	chr9:140388443-140388444	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568028556	chr9:140388491-140388492	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527402496	chr9:140388518-140388519	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547055407	chr9:140388562-140388563	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556913047	chr9:140388592-140388593	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77995929	chr9:140388604-140388605	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547594368	chr9:140388609-140388610	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573518666	chr9:140388654-140388655	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376778501	chr9:140388655-140388656	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370393273	chr9:140388669-140388670	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141465334	chr9:140388681-140388682	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374849968	chr9:140388706-140388707	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145151981	chr9:140388707-140388708	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572429249	chr9:140388710-140388711	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541549747	chr9:140388718-140388719	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368895268	chr9:140388779-140388780	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557856409	chr9:140388807-140388808	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs578004628	chr9:140388833-140388834	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187642153	chr9:140388857-140388858	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563931347	chr9:140388862-140388863	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536012927	chr9:140388863-140388864	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191762710	chr9:140388864-140388865	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138989139	chr9:140388904-140388905	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559922817	chr9:140388905-140388906	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371671865	chr9:140388930-140388931	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547517960	chr9:140388981-140388982	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376715835	chr9:140389005-140389006	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71510824	chr9:140389013-140389014	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183977540	chr9:140389019-140389020	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572761190	chr9:140389021-140389022	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs71510825	chr9:140389030-140389031	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544719320	chr9:140389037-140389038	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148978736	chr9:140389070-140389071	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188706967	chr9:140389106-140389107	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368221480	chr9:140389118-140389119	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548891980	chr9:140389174-140389175	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs565905873	chr9:140389188-140389189	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143715278	chr9:140389189-140389190	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558182244	chr9:140389190-140389191	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs71510826	chr9:140389200-140389201	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs578149374	chr9:140389210-140389211	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs113289324	chr9:140389240-140389241	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191297622	chr9:140389264-140389265	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs557412192	chr9:140389274-140389275	ZNF genes & repeats Active TSS Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140373800-140396000	Weak transcription	Esophagus	oesophagus
2	chr9:140375000-140392200	Weak transcription	Brain Angular Gyrus	brain
3	chr9:140376800-140444000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:140377000-140393400	Weak transcription	Brain Substantia Nigra	brain
5	chr9:140377000-140394400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:140377000-140437000	Weak transcription	Left Ventricle	heart
7	chr9:140377200-140393800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:140377200-140420200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:140377400-140393200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:140379400-140389000	Weak transcription	Gastric	stomach
11	chr9:140381600-140396600	Strong transcription	Liver	Liver
12	chr9:140382400-140389400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:140382600-140397400	Weak transcription	Lung	lung
14	chr9:140383000-140388800	Weak transcription	Stomach Mucosa	stomach
15	chr9:140384400-140391200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:140384600-140397600	Strong transcription	Ovary	ovary
17	chr9:140386000-140393000	Weak transcription	Primary B cells from cord blood	blood
18	chr9:140386400-140388200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:140386400-140388600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:140386400-140392400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:140386600-140391400	Weak transcription	Brain Anterior Caudate	brain
22	chr9:140386600-140403200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:140386600-140403400	Weak transcription	Aorta	Aorta
24	chr9:140386800-140388200	Enhancers	K562	blood
25	chr9:140386800-140393600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:140387600-140388200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:140387600-140388400	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr9:140387600-140388400	Enhancers	Brain Hippocampus Middle	brain
29	chr9:140387600-140388400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr9:140387600-140388400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:140387600-140388600	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr9:140387600-140388800	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr9:140387600-140389000	Enhancers	Right Ventricle	heart
34	chr9:140387600-140389200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr9:140387600-140389400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:140387600-140389800	ZNF genes & repeats	Fetal Stomach	stomach
37	chr9:140387600-140389800	Enhancers	Spleen	Spleen
38	chr9:140387800-140388200	Enhancers	Colonic Mucosa	Colon
39	chr9:140387800-140388400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr9:140387800-140388400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:140387800-140388400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr9:140387800-140388600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr9:140387800-140389000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:140387800-140389600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr9:140388000-140388200	Weak transcription	Adipose Nuclei	Adipose
46	chr9:140388000-140388600	Weak transcription	Hela-S3	cervix
47	chr9:140388000-140389200	Strong transcription	Pancreas	Pancrea
48	chr9:140388000-140389400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:140388200-140388800	Flanking Active TSS	Colonic Mucosa	Colon
50	chr9:140388200-140388800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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