Variant report

Variant	esv3408309
Chromosome Location	chr9:140793931-140797029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:140796431..140799040-chr9:140804864..140806682,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547483951	chr9:140793931-140793932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564198509	chr9:140793939-140793940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533539301	chr9:140793944-140793945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191155718	chr9:140793945-140793946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572514420	chr9:140793948-140793949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563933319	chr9:140793958-140793959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368097307	chr9:140793968-140793969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34986437	chr9:140793999-140794000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541434576	chr9:140794029-140794030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371783548	chr9:140794060-140794061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566054174	chr9:140794097-140794098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528507417	chr9:140794098-140794099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370836710	chr9:140794218-140794219	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571428850	chr9:140794232-140794233	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs71510861	chr9:140794280-140794281	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11137297	chr9:140794296-140794297	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555948473	chr9:140794299-140794300	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543519097	chr9:140794377-140794378	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535731061	chr9:140794378-140794379	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555410856	chr9:140794382-140794383	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs571986586	chr9:140794397-140794398	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534624892	chr9:140794398-140794399	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563522597	chr9:140794399-140794400	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs183289867	chr9:140794417-140794418	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577825045	chr9:140794430-140794431	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55975415	chr9:140794445-140794446	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563906247	chr9:140794454-140794455	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565631202	chr9:140794520-140794521	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75130533	chr9:140794530-140794531	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559820494	chr9:140794576-140794577	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528458314	chr9:140794610-140794611	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551377080	chr9:140794612-140794613	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564995518	chr9:140794637-140794638	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530914993	chr9:140794647-140794648	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188733915	chr9:140794653-140794654	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34556784	chr9:140794665-140794666	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569818390	chr9:140794673-140794674	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148472392	chr9:140794698-140794699	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549233336	chr9:140794737-140794738	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191383364	chr9:140794743-140794744	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142627967	chr9:140794774-140794775	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147622244	chr9:140794799-140794800	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373896598	chr9:140794815-140794816	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113789350	chr9:140794836-140794837	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577761287	chr9:140794839-140794840	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556810634	chr9:140794878-140794879	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574153590	chr9:140794889-140794890	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571122085	chr9:140794891-140794892	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559961357	chr9:140794929-140794930	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11999099	chr9:140794961-140794962	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:19)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140773200-140795400	Weak transcription	Right Atrium	heart
2	chr9:140787000-140807400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:140787400-140796600	Weak transcription	Fetal Brain Female	brain
4	chr9:140787600-140794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:140793800-140794800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr9:140793800-140795000	Enhancers	Fetal Brain Male	brain
7	chr9:140794000-140794400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:140794000-140795600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:140794200-140794400	Enhancers	Brain Anterior Caudate	brain
10	chr9:140794200-140795800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:140794400-140794800	Weak transcription	Brain Anterior Caudate	brain
12	chr9:140794400-140795200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:140794800-140795000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr9:140794800-140795400	Active TSS	Brain Anterior Caudate	brain
15	chr9:140795000-140795200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr9:140795000-140795400	Active TSS	Brain Angular Gyrus	brain
17	chr9:140795000-140795600	ZNF genes & repeats	Gastric	stomach
18	chr9:140795000-140795800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:140795000-140795800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr9:140795000-140818200	Weak transcription	Fetal Brain Male	brain
21	chr9:140795200-140795400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:140795200-140795600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
23	chr9:140795400-140795600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr9:140795400-140795600	ZNF genes & repeats	Right Atrium	heart
25	chr9:140795400-140800200	Weak transcription	Brain Angular Gyrus	brain
26	chr9:140795400-140808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:140796600-140797000	ZNF genes & repeats	Fetal Brain Female	brain
28	chr9:140797000-140806800	Weak transcription	Fetal Brain Female	brain

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