Variant report

Variant	esv999632
Chromosome Location	chr9:95483885-95491267
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95474084..95476947-chr9:95483960..95486905,2	K562	blood:
2	chr9:95488503..95490523-chr9:95550611..95553154,2	MCF-7	breast:
3	chr9:95476880..95479198-chr9:95481003..95486701,5	MCF-7	breast:
4	chr9:95488025..95490197-chr9:95526052..95527941,3	K562	blood:
5	chr9:95481964..95484058-chr9:95531811..95534209,2	MCF-7	breast:
6	chr9:95483929..95486078-chr9:95495007..95497382,2	MCF-7	breast:
7	chr9:95486449..95488708-chr9:95489752..95492934,4	K562	blood:
8	chr9:95482315..95485093-chr9:95487732..95490761,4	K562	blood:
9	chr9:95483081..95485092-chr9:95524968..95527772,2	MCF-7	breast:
10	chr9:95431172..95435271-chr9:95479982..95485530,5	MCF-7	breast:
11	chr9:95484940..95486655-chr9:95500825..95503723,2	K562	blood:
12	chr9:95483115..95485698-chr9:95490750..95492999,2	MCF-7	breast:
13	chr9:95478967..95480726-chr9:95484940..95487437,2	MCF-7	breast:
14	chr9:95482315..95485093-chr9:95487732..95490761,4	K562	blood:
15	chr9:95486744..95488866-chr9:95531575..95533845,2	MCF-7	breast:
16	chr9:95485854..95488848-chr9:95526219..95528581,4	MCF-7	breast:
17	chr9:95490525..95493250-chr9:95553271..95556888,4	MCF-7	breast:
18	chr9:95486460..95489188-chr9:95491019..95493558,2	K562	blood:
19	chr9:95486636..95488536-chr9:95489832..95492725,3	MCF-7	breast:
20	chr9:95487457..95489961-chr9:95493403..95495209,2	MCF-7	breast:
21	chr9:95489432..95492174-chr9:95505012..95506528,2	K562	blood:
22	chr9:95490365..95492955-chr9:95524565..95526650,2	K562	blood:
23	chr9:95488191..95494776-chr9:95524763..95529525,11	MCF-7	breast:
24	chr9:95489925..95493228-chr9:95524628..95528796,8	MCF-7	breast:
25	chr9:95486636..95488536-chr9:95489832..95492725,3	MCF-7	breast:
26	chr9:95483115..95485698-chr9:95490750..95492999,2	MCF-7	breast:
27	chr9:95490823..95492381-chr9:95552762..95553676,10	MCF-7	breast:
28	chr9:95486460..95489188-chr9:95491019..95493558,2	K562	blood:
29	chr9:95489380..95491357-chr9:95508006..95509721,2	K562	blood:
30	chr9:95486449..95488708-chr9:95489752..95492934,4	K562	blood:
31	chr9:95086396..95088682-chr9:95485329..95488203,2	MCF-7	breast:
32	chr9:95486445..95488798-chr9:95526364..95530129,4	K562	blood:
33	chr9:95471128..95473900-chr9:95482099..95486004,3	K562	blood:
34	chr9:95432957..95435683-chr9:95486350..95488699,2	MCF-7	breast:
35	chr9:95481018..95487899-chr9:95523684..95529726,11	MCF-7	breast:
36	chr9:95489709..95492274-chr9:95498684..95502250,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000127080	chromatin interactions
ENSG00000188312	chromatin interactions
ENSG00000198000	chromatin interactions
ENSG00000185963	chromatin interactions

Extended variants
information (count: 284 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565234355	chr9:95483890-95483891	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555703271	chr9:95483959-95483960	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541937672	chr9:95483979-95483980	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532874890	chr9:95484026-95484027	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs12236393	chr9:95484063-95484064	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566309410	chr9:95484123-95484124	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536818743	chr9:95484159-95484160	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535399389	chr9:95484167-95484168	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549144304	chr9:95484182-95484183	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143745575	chr9:95484198-95484199	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148146250	chr9:95484204-95484205	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555908677	chr9:95484221-95484222	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577532963	chr9:95484253-95484254	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538583171	chr9:95484254-95484255	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12236636	chr9:95484294-95484295	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12684150	chr9:95484334-95484335	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141995029	chr9:95484394-95484395	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150279645	chr9:95484403-95484404	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371954715	chr9:95484425-95484426	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561099437	chr9:95484430-95484431	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186112754	chr9:95484478-95484479	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545813172	chr9:95484504-95484505	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs375514659	chr9:95484537-95484538	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376756535	chr9:95484559-95484560	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543867137	chr9:95484568-95484569	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564389034	chr9:95484572-95484573	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576487343	chr9:95484574-95484575	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191019126	chr9:95484600-95484601	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181777265	chr9:95484653-95484654	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77448885	chr9:95484720-95484721	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs560084396	chr9:95484723-95484724	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs111909145	chr9:95484729-95484730	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs530357935	chr9:95484737-95484738	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548506721	chr9:95484738-95484739	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374764617	chr9:95484761-95484762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139023495	chr9:95484827-95484828	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376877266	chr9:95484915-95484916	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368861640	chr9:95484924-95484925	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371451237	chr9:95484927-95484928	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201274230	chr9:95484942-95484943	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs41316958	chr9:95484953-95484954	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374356164	chr9:95484959-95484960	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs398123029	chr9:95484981-95484982	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376208721	chr9:95485048-95485049	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138339539	chr9:95485065-95485066	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529599342	chr9:95485096-95485097	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186469385	chr9:95485097-95485098	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114997314	chr9:95485109-95485110	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs199792082	chr9:95485132-95485133	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548139405	chr9:95485165-95485166	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
overgrowth syndrome	16570072	CNVD

Chromatin state (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95470800-95484800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:95471000-95485400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:95471000-95485600	Strong transcription	Fetal Thymus	thymus
4	chr9:95471000-95493000	Strong transcription	Thymus	Thymus
5	chr9:95471200-95484200	Strong transcription	Liver	Liver
6	chr9:95471200-95485000	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr9:95471200-95485200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:95471200-95485200	Strong transcription	Fetal Brain Female	brain
9	chr9:95471200-95486000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:95471400-95484800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:95471400-95485000	Strong transcription	Brain Hippocampus Middle	brain
12	chr9:95471400-95485200	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr9:95471400-95485400	Strong transcription	Brain Germinal Matrix	brain
14	chr9:95471400-95485400	Strong transcription	Gastric	stomach
15	chr9:95471400-95485600	Strong transcription	Aorta	Aorta
16	chr9:95471400-95487000	Strong transcription	Fetal Muscle Leg	muscle
17	chr9:95471400-95489000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:95471600-95485200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:95471600-95485400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:95471600-95489000	Strong transcription	Fetal Stomach	stomach
21	chr9:95471800-95485000	Strong transcription	Brain Anterior Caudate	brain
22	chr9:95471800-95485400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:95471800-95486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:95471800-95487600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:95471800-95492400	Strong transcription	Dnd41	blood
26	chr9:95472000-95484000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:95472000-95485200	Strong transcription	Lung	lung
28	chr9:95472000-95485400	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr9:95472000-95485400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:95472000-95485600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:95472000-95489600	Strong transcription	Fetal Intestine Small	intestine
32	chr9:95472200-95485200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:95472400-95485200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:95472600-95485200	Strong transcription	Brain Cingulate Gyrus	brain
35	chr9:95472800-95485400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:95473000-95485000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:95473000-95485400	Strong transcription	NHLF	lung
38	chr9:95473200-95484000	Strong transcription	Brain Angular Gyrus	brain
39	chr9:95473400-95484600	Strong transcription	Osteobl	bone
40	chr9:95474200-95485000	Strong transcription	Fetal Lung	lung
41	chr9:95474800-95484800	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr9:95474800-95485800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr9:95474800-95486200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:95475000-95491600	Strong transcription	Primary T cells from cord blood	blood
45	chr9:95475000-95492200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr9:95475200-95485200	Strong transcription	Pancreas	Pancrea
47	chr9:95475400-95486200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:95475600-95484200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr9:95475600-95484400	Strong transcription	Brain Substantia Nigra	brain
50	chr9:95475600-95484800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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