Variant report

Variant	esv3483722
Chromosome Location	chr9:100675531-100678988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr9:100676062-100676064	K562	blood:	n/a	n/a
2	KAP1	chr9:100675989-100676257	K562	blood:	n/a	n/a
3	MYC	chr9:100678224-100678236	MCF-7	breast:	n/a	n/a
4	POLR2A	chr9:100677374-100677474	MCF10A-Er-Src	breast:	n/a	n/a
5	RCOR1	chr9:100675964-100676052	K562	blood:	n/a	n/a
6	STAT3	chr9:100675647-100675981	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr9:100676554-100677050	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:100394343..100396600-chr9:100677965..100680117,2	MCF-7	breast:
2	chr9:100677016..100678517-chr9:100817759..100820189,2	MCF-7	breast:
3	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
4	chr9:100435124..100437467-chr9:100674905..100676458,2	K562	blood:
5	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
6	chr9:100662549..100664772-chr9:100675385..100677486,2	K562	blood:
7	chr9:100674231..100678302-chr9:100744904..100747134,4	MCF-7	breast:
8	chr1:86397392..86400390-chr9:100675486..100677661,2	K562	blood:

No data

Variant related genes	Relation type
C9orf156	TF binding region
ENSG00000201830	TF binding region
ENSG00000136938	chromatin interactions
ENSG00000136937	chromatin interactions
ENSG00000236896	chromatin interactions
ENSG00000136925	chromatin interactions
ENSG00000095380	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118147494	chr9:100675547-100675548	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538115666	chr9:100675592-100675593	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556630967	chr9:100675648-100675649	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs571215626	chr9:100675649-100675650	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs35584854	chr9:100675651-100675652	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375908838	chr9:100675668-100675669	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs370421951	chr9:100675671-100675672	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs141236958	chr9:100675724-100675725	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs77668890	chr9:100675777-100675778	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs373097511	chr9:100675804-100675805	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs1127703	chr9:100675816-100675817	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201918701	chr9:100675817-100675818	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs74477697	chr9:100675823-100675824	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs572524913	chr9:100675869-100675870	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs536666153	chr9:100675910-100675911	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs2120263	chr9:100675944-100675945	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs142337816	chr9:100675952-100675953	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs543677545	chr9:100675971-100675972	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs2120262	chr9:100675976-100675977	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs576961195	chr9:100675993-100675994	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs184863876	chr9:100676005-100676006	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs538034813	chr9:100676091-100676092	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs146162430	chr9:100676118-100676119	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs139001220	chr9:100676223-100676224	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs534806356	chr9:100676239-100676240	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs546647626	chr9:100676246-100676247	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs571620021	chr9:100676333-100676334	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541441096	chr9:100676356-100676357	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142160692	chr9:100676384-100676385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531941230	chr9:100676412-100676413	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34556105	chr9:100676430-100676431	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs117943821	chr9:100676437-100676438	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs79852356	chr9:100676457-100676458	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571806064	chr9:100676524-100676525	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs532742525	chr9:100676668-100676669	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs76863989	chr9:100676688-100676689	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs566191366	chr9:100676697-100676698	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs536726583	chr9:100676837-100676838	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs377215478	chr9:100676855-100676856	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs555028396	chr9:100676878-100676879	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs570059987	chr9:100676893-100676894	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs144765032	chr9:100676907-100676908	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs3780417	chr9:100676931-100676932	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538925868	chr9:100676945-100676946	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs188061285	chr9:100676956-100676957	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs541245158	chr9:100676991-100676992	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs191416810	chr9:100677012-100677013	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs370996588	chr9:100677014-100677015	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs57437125	chr9:100677041-100677042	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs574228298	chr9:100677084-100677085	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	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
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
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100658800-100681800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:100662800-100684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:100665400-100679000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:100665600-100678200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr9:100666600-100676000	Strong transcription	Fetal Intestine Large	intestine
6	chr9:100666800-100675800	Strong transcription	Fetal Stomach	stomach
7	chr9:100667000-100675800	Strong transcription	Fetal Intestine Small	intestine
8	chr9:100667200-100679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:100667200-100684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:100669400-100675800	Strong transcription	Brain Germinal Matrix	brain
11	chr9:100669400-100675800	Strong transcription	Fetal Muscle Leg	muscle
12	chr9:100669600-100678600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr9:100669600-100678800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr9:100669800-100676400	Strong transcription	K562	blood
15	chr9:100669800-100678400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:100670000-100676200	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:100670000-100678600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr9:100670000-100684200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:100670200-100675800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr9:100670200-100678600	Strong transcription	Liver	Liver
21	chr9:100670200-100678600	Strong transcription	Placenta	Placenta
22	chr9:100670200-100678600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr9:100670400-100675600	Strong transcription	Brain Hippocampus Middle	brain
24	chr9:100670400-100677000	Strong transcription	GM12878-XiMat	blood
25	chr9:100670400-100678400	Strong transcription	Dnd41	blood
26	chr9:100670400-100679400	Strong transcription	Thymus	Thymus
27	chr9:100670600-100676000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:100670800-100684200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr9:100671000-100676200	Strong transcription	Left Ventricle	heart
30	chr9:100671000-100677400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:100671000-100677800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:100671000-100678400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:100671200-100675600	Strong transcription	Rectal Smooth Muscle	rectum
34	chr9:100671200-100676400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:100671200-100676400	Strong transcription	Brain Angular Gyrus	brain
36	chr9:100671200-100676600	Strong transcription	Adipose Nuclei	Adipose
37	chr9:100671200-100680200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr9:100671400-100676400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr9:100671400-100678800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:100671600-100675800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:100671600-100675800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:100671600-100675800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr9:100671600-100676000	Strong transcription	Fetal Brain Female	brain
44	chr9:100671600-100676200	Strong transcription	Gastric	stomach
45	chr9:100671600-100676200	Strong transcription	Lung	lung
46	chr9:100671600-100676600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:100671600-100678200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:100671600-100678600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:100671600-100678600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr9:100671600-100678600	Strong transcription	Fetal Thymus	thymus

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