Variant report

Variant	esv3436815
Chromosome Location	chr9:94599631-94603929
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94602829..94604983-chr9:94613867..94616038,2	K562	blood:
2	chr9:94600991..94603811-chr9:94624286..94626763,2	K562	blood:
3	chr9:94602829..94605124-chr9:94607630..94609855,2	MCF-7	breast:
4	chr9:94597146..94598805-chr9:94600443..94602240,2	K562	blood:
5	chr9:94599805..94602377-chr9:94607458..94609463,2	K562	blood:
6	chr9:94600587..94602440-chr9:94606824..94609770,3	K562	blood:
7	chr9:94597586..94601465-chr9:94602257..94605897,5	K562	blood:
8	chr9:94596693..94598646-chr9:94599586..94601943,2	K562	blood:
9	chr9:94592183..94593862-chr9:94599250..94601160,2	K562	blood:
10	chr9:94596679..94601637-chr9:94602257..94606458,6	K562	blood:
11	chr9:94597586..94601465-chr9:94602257..94605897,5	K562	blood:
12	chr9:94603914..94606181-chr9:94621038..94623335,2	MCF-7	breast:
13	chr9:94602912..94604839-chr9:94617568..94620449,2	MCF-7	breast:
14	chr9:94596679..94601637-chr9:94602257..94606458,6	K562	blood:

No data

Extended variants
information (count: 184 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs531487269	chr9:94599673-94599674	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141424164	chr9:94599716-94599717	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556937966	chr9:94599766-94599767	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147018089	chr9:94599789-94599790	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545906062	chr9:94599816-94599817	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138219648	chr9:94599829-94599830	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73651567	chr9:94599857-94599858	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141923715	chr9:94599861-94599862	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143031043	chr9:94599891-94599892	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190775610	chr9:94599918-94599919	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550290053	chr9:94599928-94599929	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs148207244	chr9:94599942-94599943	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs80000624	chr9:94599944-94599945	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs141228715	chr9:94599963-94599964	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10992128	chr9:94599967-94599968	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs150875076	chr9:94600098-94600099	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7847473	chr9:94600102-94600103	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138441032	chr9:94600107-94600108	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546487253	chr9:94600123-94600124	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs17587223	chr9:94600207-94600208	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184060057	chr9:94600231-94600232	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144090084	chr9:94600248-94600249	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372952866	chr9:94600261-94600262	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7858714	chr9:94600276-94600277	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs1569143	chr9:94600288-94600289	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs1569142	chr9:94600289-94600290	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146144410	chr9:94600324-94600325	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140186292	chr9:94600325-94600326	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7847748	chr9:94600343-94600344	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs573268438	chr9:94600350-94600351	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs540676983	chr9:94600359-94600360	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555708669	chr9:94600390-94600391	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs58039661	chr9:94600414-94600415	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs62564594	chr9:94600419-94600420	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144703913	chr9:94600423-94600424	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575359312	chr9:94600436-94600437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73651568	chr9:94600463-94600464	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs563607946	chr9:94600470-94600471	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs532411975	chr9:94600487-94600488	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527617220	chr9:94600508-94600509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564069125	chr9:94600524-94600525	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7874163	chr9:94600528-94600529	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs546647148	chr9:94600544-94600545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561748450	chr9:94600550-94600551	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529036119	chr9:94600577-94600578	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs550487290	chr9:94600605-94600606	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs116689340	chr9:94600606-94600607	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75745017	chr9:94600630-94600631	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551506711	chr9:94600660-94600661	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs148531381	chr9:94600669-94600670	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94594600-94610800	Enhancers	Fetal Thymus	thymus
2	chr9:94595400-94599800	Enhancers	Ovary	ovary
3	chr9:94595600-94599800	Weak transcription	K562	blood
4	chr9:94595600-94600000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:94595600-94600600	Enhancers	Fetal Stomach	stomach
6	chr9:94595800-94600200	Enhancers	Fetal Lung	lung
7	chr9:94596400-94605200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:94596600-94600200	Enhancers	Rectal Smooth Muscle	rectum
9	chr9:94596600-94600400	Weak transcription	NHDF-Ad	bronchial
10	chr9:94596600-94600600	Weak transcription	Spleen	Spleen
11	chr9:94596800-94600800	Weak transcription	Esophagus	oesophagus
12	chr9:94597000-94599800	Enhancers	Fetal Heart	heart
13	chr9:94597000-94605800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:94597200-94600200	Enhancers	Colon Smooth Muscle	Colon
15	chr9:94597600-94600400	Weak transcription	Fetal Intestine Large	intestine
16	chr9:94597600-94600600	Weak transcription	Pancreas	Pancrea
17	chr9:94597600-94601600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:94597800-94600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:94597800-94602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:94598000-94600200	Weak transcription	Fetal Intestine Small	intestine
21	chr9:94598000-94604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:94598200-94599800	Weak transcription	Fetal Kidney	kidney
23	chr9:94598200-94600200	Weak transcription	Right Atrium	heart
24	chr9:94598200-94605600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:94598400-94599800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:94598400-94600200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:94598800-94600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:94598800-94600400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:94598800-94600400	Enhancers	Stomach Smooth Muscle	stomach
30	chr9:94599000-94599800	Enhancers	Fetal Muscle Trunk	muscle
31	chr9:94599000-94600400	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:94599000-94600800	Enhancers	Primary B cells from peripheral blood	blood
33	chr9:94599200-94600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:94599200-94600600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:94599200-94600600	Weak transcription	Placenta	Placenta
36	chr9:94599200-94600600	Weak transcription	Gastric	stomach
37	chr9:94599200-94600600	Weak transcription	Lung	lung
38	chr9:94599200-94600600	Weak transcription	Right Ventricle	heart
39	chr9:94599200-94600800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:94599200-94601800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:94599200-94604400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:94599200-94604600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:94599400-94602000	Weak transcription	GM12878-XiMat	blood
44	chr9:94599600-94600400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:94599600-94600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:94599800-94600000	Enhancers	Colonic Mucosa	Colon
47	chr9:94599800-94600200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr9:94599800-94600200	Weak transcription	Ovary	ovary
49	chr9:94599800-94600600	Enhancers	Fetal Kidney	kidney
50	chr9:94599800-94600800	Enhancers	Duodenum Mucosa	Duodenum

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