Variant report

Variant	esv3422697
Chromosome Location	chr9:136778731-136783129
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136774078..136776587-chr9:136779650..136781604,3	MCF-7	breast:
2	chr9:136776944..136779401-chr9:136782904..136785015,2	MCF-7	breast:
3	chr9:136727889..136730312-chr9:136777373..136780335,2	MCF-7	breast:
4	chr9:136777667..136779284-chr9:136788420..136790198,2	K562	blood:
5	chr9:136737105..136739674-chr9:136778546..136781444,2	MCF-7	breast:
6	chr9:136701715..136704357-chr9:136781966..136784571,2	MCF-7	breast:
7	chr9:136747009..136748873-chr9:136778099..136780165,2	MCF-7	breast:
8	chr9:136782252..136784274-chr9:136786342..136788595,2	K562	blood:
9	chr9:136772619..136776422-chr9:136776725..136781488,5	K562	blood:
10	chr9:136776944..136779401-chr9:136782904..136785015,2	MCF-7	breast:
11	chr9:136757643..136759941-chr9:136779061..136782245,3	MCF-7	breast:
12	chr9:136776480..136779233-chr9:136856676..136858268,2	MCF-7	breast:
13	chr9:136781852..136785790-chr9:136856323..136859841,3	MCF-7	breast:
14	chr9:136779162..136780728-chr9:136807487..136809424,2	MCF-7	breast:
15	chr9:136775409..136777702-chr9:136777760..136779303,3	MCF-7	breast:
16	chr9:136738615..136741064-chr9:136782245..136785156,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:269 , 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	rs73662340	chr9:136778735-136778736	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150316990	chr9:136778761-136778762	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551830076	chr9:136778826-136778827	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34699696	chr9:136778836-136778837	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13297176	chr9:136778840-136778841	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530909382	chr9:136778855-136778856	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs609691	chr9:136778879-136778880	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375313776	chr9:136778905-136778906	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74430971	chr9:136778906-136778907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181359925	chr9:136778907-136778908	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568367518	chr9:136778943-136778944	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs137966258	chr9:136779028-136779029	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376884462	chr9:136779051-136779052	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553701481	chr9:136779057-136779058	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572192660	chr9:136779077-136779078	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545610731	chr9:136779087-136779088	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186437119	chr9:136779088-136779089	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs608402	chr9:136779153-136779154	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs598184	chr9:136779176-136779177	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191038637	chr9:136779181-136779182	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201144527	chr9:136779239-136779240	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs149618588	chr9:136779307-136779308	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs368604540	chr9:136779350-136779351	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs559723875	chr9:136779383-136779384	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs144316483	chr9:136779423-136779424	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs139352751	chr9:136779432-136779433	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs182061814	chr9:136779433-136779434	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs62575346	chr9:136779439-136779440	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs78166563	chr9:136779477-136779478	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs374202768	chr9:136779521-136779522	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs2810505	chr9:136779563-136779564	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75458676	chr9:136779609-136779610	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs535784213	chr9:136779619-136779620	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs547649961	chr9:136779634-136779635	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs371492669	chr9:136779641-136779642	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs2492054	chr9:136779664-136779665	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539613106	chr9:136779672-136779673	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs115037063	chr9:136779687-136779688	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs149979667	chr9:136779730-136779731	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs57784727	chr9:136779742-136779743	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs575751334	chr9:136779744-136779745	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs536712840	chr9:136779765-136779766	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs554976204	chr9:136779773-136779774	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs573278696	chr9:136779774-136779775	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs541407283	chr9:136779837-136779838	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs546413590	chr9:136779841-136779842	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs201456030	chr9:136779875-136779876	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs60347715	chr9:136779877-136779878	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs59324245	chr9:136779894-136779895	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs61434758	chr9:136779899-136779900	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	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
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr9:136747600-136780800	Weak transcription	Right Atrium	heart
3	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
4	chr9:136758200-136779000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:136758400-136778800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:136758400-136781000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:136758800-136780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:136763200-136780800	Weak transcription	Hela-S3	cervix
9	chr9:136765800-136797200	Weak transcription	HSMMtube	muscle
10	chr9:136766600-136784400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:136770200-136779000	Weak transcription	HSMM	muscle
12	chr9:136771000-136780800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:136772600-136778800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:136772600-136782200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:136772800-136779200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:136772800-136780000	Weak transcription	NHLF	lung
17	chr9:136772800-136780400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:136773400-136779000	Weak transcription	Brain Substantia Nigra	brain
19	chr9:136773600-136779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:136774200-136778800	Weak transcription	Fetal Intestine Large	intestine
21	chr9:136774800-136778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:136774800-136802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:136776200-136778800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:136776200-136778800	Enhancers	Brain Germinal Matrix	brain
25	chr9:136776600-136778800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:136776600-136778800	Strong transcription	Fetal Intestine Small	intestine
27	chr9:136776600-136780000	Weak transcription	Ovary	ovary
28	chr9:136776800-136780800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:136777000-136779000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:136777000-136779400	Weak transcription	Fetal Lung	lung
31	chr9:136777000-136780000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:136777000-136780000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:136777000-136780000	Weak transcription	Esophagus	oesophagus
34	chr9:136777000-136780000	Weak transcription	Gastric	stomach
35	chr9:136777000-136780200	Weak transcription	Stomach Mucosa	stomach
36	chr9:136777000-136780600	Weak transcription	HMEC	breast
37	chr9:136777000-136783200	Enhancers	Fetal Brain Female	brain
38	chr9:136777000-136786200	Weak transcription	NHEK	skin
39	chr9:136777200-136779800	Genic enhancers	HepG2	liver
40	chr9:136777200-136780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:136777200-136780800	Enhancers	Brain Cingulate Gyrus	brain
42	chr9:136777400-136780800	Enhancers	Fetal Brain Male	brain
43	chr9:136777600-136780000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:136777600-136780000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:136777600-136781800	Enhancers	Liver	Liver
46	chr9:136777600-136786400	Weak transcription	Primary B cells from cord blood	blood
47	chr9:136777800-136780200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr9:136777800-136781200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr9:136777800-136796600	Weak transcription	HUVEC	blood vessel
50	chr9:136778000-136779400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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