Variant report

Variant	esv3482529
Chromosome Location	chr9:94821472-94830365
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94805829..94808024-chr9:94825130..94827991,2	K562	blood:
2	chr9:94822277..94824746-chr9:94829983..94832787,2	K562	blood:
3	chr9:94829684..94833398-chr9:94833829..94839474,7	MCF-7	breast:
4	chr9:94828152..94830291-chr9:94832273..94834306,2	K562	blood:
5	chr9:94822277..94824746-chr9:94829983..94832787,2	K562	blood:
6	chr9:94821053..94823320-chr9:94823986..94826593,3	MCF-7	breast:
7	chr9:94828730..94831547-chr9:94834645..94837626,3	MCF-7	breast:
8	chr9:94821053..94823320-chr9:94823986..94826593,3	MCF-7	breast:

No data

Extended variants
information (count: 362 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:362 , 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	rs183695413	chr9:94821472-94821473	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574546386	chr9:94821488-94821489	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373991190	chr9:94821495-94821496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369193357	chr9:94821497-94821498	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371402481	chr9:94821499-94821500	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541564846	chr9:94821500-94821501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373314300	chr9:94821542-94821543	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563267736	chr9:94821547-94821548	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376271947	chr9:94821594-94821595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575148158	chr9:94821603-94821604	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370400836	chr9:94821636-94821637	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139200143	chr9:94821644-94821645	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56160856	chr9:94821666-94821667	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528410176	chr9:94821682-94821683	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546347347	chr9:94821703-94821704	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561546761	chr9:94821750-94821751	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376633312	chr9:94821763-94821764	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187826813	chr9:94821827-94821828	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12237598	chr9:94821861-94821862	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs143255333	chr9:94821880-94821881	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs207470370	chr9:94821892-94821893	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556077307	chr9:94821921-94821922	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147113281	chr9:94821973-94821974	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138569795	chr9:94821978-94821979	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76012142	chr9:94821987-94821988	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115924778	chr9:94822027-94822028	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191855547	chr9:94822030-94822031	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369745308	chr9:94822059-94822060	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574307273	chr9:94822075-94822076	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535500875	chr9:94822082-94822083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7858659	chr9:94822146-94822147	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs117438952	chr9:94822201-94822202	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183619734	chr9:94822225-94822226	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs2186091	chr9:94822260-94822261	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141831617	chr9:94822266-94822267	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs11791040	chr9:94822268-94822269	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79677150	chr9:94822278-94822279	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188273719	chr9:94822291-94822292	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571893342	chr9:94822299-94822300	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150608058	chr9:94822311-94822312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539418594	chr9:94822317-94822318	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs368890730	chr9:94822345-94822346	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12343645	chr9:94822409-94822410	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs562840908	chr9:94822412-94822413	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533511623	chr9:94822413-94822414	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12343647	chr9:94822418-94822419	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs192443307	chr9:94822444-94822445	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112690556	chr9:94822447-94822448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185432074	chr9:94822466-94822467	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567993882	chr9:94822487-94822488	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94805000-94823200	Strong transcription	Duodenum Mucosa	Duodenum
2	chr9:94805400-94821600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:94805600-94822600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr9:94805600-94823400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:94805800-94822800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:94806000-94823200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr9:94806800-94822000	Weak transcription	Stomach Mucosa	stomach
8	chr9:94806800-94822400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:94806800-94822800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr9:94807200-94822000	Weak transcription	Psoas Muscle	Psoas
11	chr9:94807200-94822600	Strong transcription	Primary T cells from cord blood	blood
12	chr9:94807200-94823000	Strong transcription	Primary B cells from cord blood	blood
13	chr9:94807200-94823200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr9:94807400-94822800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:94807600-94824600	Weak transcription	Fetal Brain Male	brain
16	chr9:94809600-94823600	Weak transcription	Colonic Mucosa	Colon
17	chr9:94810800-94860200	Weak transcription	Right Ventricle	heart
18	chr9:94811200-94822600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr9:94811800-94828400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:94812200-94822400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:94812200-94832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:94812400-94828400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:94814800-94822000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:94815400-94822200	Strong transcription	Fetal Muscle Leg	muscle
25	chr9:94815400-94822600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr9:94815400-94822600	Strong transcription	Placenta	Placenta
27	chr9:94815400-94823000	Strong transcription	Dnd41	blood
28	chr9:94815600-94822200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr9:94815600-94822800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr9:94815800-94822600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:94816000-94823400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr9:94816600-94822200	Strong transcription	K562	blood
33	chr9:94816600-94822600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:94816600-94822600	Strong transcription	Fetal Thymus	thymus
35	chr9:94817000-94822600	Strong transcription	Left Ventricle	heart
36	chr9:94817200-94824800	Weak transcription	Brain Substantia Nigra	brain
37	chr9:94817400-94826200	Weak transcription	NHLF	lung
38	chr9:94817600-94822000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:94817600-94822200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:94817600-94822200	Weak transcription	Fetal Stomach	stomach
41	chr9:94817600-94823400	Weak transcription	Brain Anterior Caudate	brain
42	chr9:94817600-94827000	Weak transcription	Small Intestine	intestine
43	chr9:94817600-94828000	Weak transcription	Gastric	stomach
44	chr9:94817600-94828000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr9:94817600-94828200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:94817600-94828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:94817600-94828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:94817800-94822000	Weak transcription	Spleen	Spleen
49	chr9:94817800-94822800	Weak transcription	Fetal Brain Female	brain
50	chr9:94817800-94823200	Weak transcription	Colon Smooth Muscle	Colon

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