Variant report

Variant	esv3487566
Chromosome Location	chr9:94622342-94626802
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94619022..94622671-chr9:94625624..94629747,5	K562	blood:
2	chr9:94603914..94606181-chr9:94621038..94623335,2	MCF-7	breast:
3	chr9:94621154..94622760-chr9:94625624..94628222,3	K562	blood:
4	chr9:94600991..94603811-chr9:94624286..94626763,2	K562	blood:
5	chr9:94619022..94622671-chr9:94625624..94629747,5	K562	blood:
6	chr9:94626758..94629803-chr9:94629808..94631771,3	K562	blood:
7	chr9:94621154..94622760-chr9:94625624..94628222,3	K562	blood:
8	chr9:94626467..94629171-chr9:94633400..94634901,2	K562	blood:
9	chr9:94626760..94629171-chr9:94633039..94635717,3	K562	blood:

No data

Extended variants
information (count: 171 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs117567222	chr9:94622344-94622345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs562013446	chr9:94622379-94622380	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs547236143	chr9:94622394-94622395	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11791415	chr9:94622451-94622452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550372651	chr9:94622454-94622455	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189655830	chr9:94622493-94622494	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548194660	chr9:94622508-94622509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4744105	chr9:94622509-94622510	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150681881	chr9:94622520-94622521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73517062	chr9:94622536-94622537	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115955084	chr9:94622544-94622545	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535222329	chr9:94622549-94622550	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566382782	chr9:94622647-94622648	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535425961	chr9:94622650-94622651	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112702435	chr9:94622673-94622674	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs553262558	chr9:94622699-94622700	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575090741	chr9:94622764-94622765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542141407	chr9:94622766-94622767	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554630597	chr9:94622789-94622790	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576101445	chr9:94622800-94622801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547372791	chr9:94622806-94622807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564984294	chr9:94622835-94622836	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113346469	chr9:94622867-94622868	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs57944742	chr9:94622875-94622876	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541244998	chr9:94622952-94622953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559250381	chr9:94622994-94622995	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568742531	chr9:94623030-94623031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530038458	chr9:94623049-94623050	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548059984	chr9:94623071-94623072	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs563383334	chr9:94623088-94623089	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530823135	chr9:94623100-94623101	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs552104425	chr9:94623117-94623118	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs185166952	chr9:94623142-94623143	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12378533	chr9:94623162-94623163	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372675029	chr9:94623163-94623164	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs116019752	chr9:94623169-94623170	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537310575	chr9:94623186-94623187	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547204704	chr9:94623206-94623207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190717663	chr9:94623246-94623247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536188413	chr9:94623314-94623315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557679540	chr9:94623416-94623417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114457114	chr9:94623429-94623430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537049124	chr9:94623480-94623481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183929319	chr9:94623496-94623497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557609805	chr9:94623513-94623514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75871383	chr9:94623526-94623527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371359191	chr9:94623537-94623538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73517065	chr9:94623583-94623584	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7866996	chr9:94623611-94623612	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559526791	chr9:94623627-94623628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94620800-94626400	Weak transcription	Ovary	ovary
2	chr9:94621000-94626400	Weak transcription	Fetal Heart	heart
3	chr9:94621000-94627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:94621200-94626000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:94621200-94626600	Weak transcription	Fetal Thymus	thymus
6	chr9:94621400-94623400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:94621400-94623600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:94621400-94624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:94621400-94625400	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:94621400-94626000	Weak transcription	Fetal Lung	lung
11	chr9:94621400-94626400	Weak transcription	Gastric	stomach
12	chr9:94621400-94626400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:94621400-94626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:94621400-94626600	Weak transcription	K562	blood
15	chr9:94621400-94626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:94621400-94627000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:94621400-94638000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:94621800-94623000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:94621800-94623000	Strong transcription	Fetal Stomach	stomach
20	chr9:94622000-94623200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:94622000-94626400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:94622200-94623200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:94622200-94623200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr9:94622200-94623200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:94622200-94623200	Strong transcription	Fetal Intestine Small	intestine
26	chr9:94623000-94626000	Weak transcription	Fetal Stomach	stomach
27	chr9:94623000-94626400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:94623200-94623600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:94623200-94626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:94623200-94627000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:94623200-94629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:94623200-94634000	Weak transcription	Fetal Intestine Small	intestine
33	chr9:94623400-94623800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:94623600-94623800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:94623600-94624000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr9:94623800-94624000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr9:94624600-94625600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:94625400-94625800	Enhancers	Colon Smooth Muscle	Colon
39	chr9:94625600-94626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:94625800-94626000	Weak transcription	Colon Smooth Muscle	Colon
41	chr9:94626000-94626600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr9:94626000-94628200	Enhancers	Fetal Stomach	stomach
43	chr9:94626000-94628400	Enhancers	Fetal Lung	lung
44	chr9:94626000-94628600	Enhancers	Colon Smooth Muscle	Colon
45	chr9:94626400-94627000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:94626400-94627000	Enhancers	Fetal Muscle Leg	muscle
47	chr9:94626400-94627000	Enhancers	Gastric	stomach
48	chr9:94626400-94627200	Enhancers	Brain Germinal Matrix	brain
49	chr9:94626400-94627200	Enhancers	Fetal Brain Male	brain
50	chr9:94626400-94627600	Enhancers	Ovary	ovary

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