Variant report

Variant	esv3504395
Chromosome Location	chr9:100999131-101002229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100997333..100999921-chr9:101015854..101018462,2	MCF-7	breast:
2	chr9:100991762..100993372-chr9:101000957..101003101,2	MCF-7	breast:
3	chr9:100993462..100999076-chr9:101001061..101006420,6	MCF-7	breast:
4	chr9:100991719..100993859-chr9:100997810..101000501,3	K562	blood:
5	chr9:101000479..101004519-chr9:101004686..101007074,4	MCF-7	breast:
6	chr9:101001085..101005688-chr9:101016159..101020159,7	MCF-7	breast:
7	chr9:101001678..101003268-chr9:101092460..101094630,2	K562	blood:

Variant related genes	Relation type
ENSG00000224001	chromatin interactions
ENSG00000095383	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114159425	chr9:100999164-100999165	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs73657125	chr9:100999181-100999182	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567620239	chr9:100999182-100999183	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536261998	chr9:100999188-100999189	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113680368	chr9:100999211-100999212	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538757756	chr9:100999236-100999237	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556574534	chr9:100999244-100999245	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145701327	chr9:100999253-100999254	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77196621	chr9:100999282-100999283	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553570286	chr9:100999315-100999316	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75388502	chr9:100999318-100999319	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541674758	chr9:100999324-100999325	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561432220	chr9:100999340-100999341	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573532768	chr9:100999341-100999342	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116144032	chr9:100999389-100999390	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562558696	chr9:100999417-100999418	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10818644	chr9:100999443-100999444	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs10818645	chr9:100999448-100999449	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs548189109	chr9:100999583-100999584	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142203745	chr9:100999585-100999586	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189601018	chr9:100999589-100999590	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113459757	chr9:100999627-100999628	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs67569753	chr9:100999664-100999665	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs201899214	chr9:100999666-100999667	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367700483	chr9:100999742-100999743	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371529798	chr9:100999827-100999828	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530103294	chr9:100999874-100999875	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182252054	chr9:100999876-100999877	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs59155179	chr9:100999950-100999951	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545143016	chr9:100999956-100999957	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563359890	chr9:100999973-100999974	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140318787	chr9:100999980-100999981	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145451199	chr9:100999995-100999996	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186289368	chr9:101000049-101000050	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137952553	chr9:101000104-101000105	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140770389	chr9:101000115-101000116	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542590869	chr9:101000142-101000143	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566705192	chr9:101000155-101000156	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374787887	chr9:101000165-101000166	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535564380	chr9:101000172-101000173	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200976335	chr9:101000192-101000193	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75356545	chr9:101000203-101000204	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556220897	chr9:101000209-101000210	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191612490	chr9:101000235-101000236	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545091944	chr9:101000250-101000251	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201488677	chr9:101000278-101000279	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535770891	chr9:101000288-101000289	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183399574	chr9:101000305-101000306	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372816978	chr9:101000314-101000315	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61573565	chr9:101000319-101000320	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Esophageal cancer	21851588	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:100961400-101001400	Weak transcription	Right Atrium	heart
3	chr9:100968600-101010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr9:100968800-101011000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr9:100969400-101004800	Weak transcription	Brain Germinal Matrix	brain
6	chr9:100970200-101001600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:100974800-101010600	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:100980200-101010200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:100981800-101010400	Weak transcription	Fetal Thymus	thymus
10	chr9:100982800-101004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:100983000-101007200	Weak transcription	Fetal Brain Male	brain
12	chr9:100983400-101006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:100985800-101002800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:100986000-101006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:100989600-101006400	Weak transcription	Psoas Muscle	Psoas
16	chr9:100989600-101016000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:100991400-101006200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr9:100991400-101006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:100991400-101006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:100991400-101010600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:100991400-101015400	Weak transcription	Brain Anterior Caudate	brain
22	chr9:100991600-101003600	Weak transcription	Colonic Mucosa	Colon
23	chr9:100991800-101011400	Weak transcription	Right Ventricle	heart
24	chr9:100992200-101003000	Weak transcription	Primary B cells from cord blood	blood
25	chr9:100992200-101012800	Weak transcription	Brain Substantia Nigra	brain
26	chr9:100992200-101016000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:100992800-101006200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:100993200-101010200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:100993400-101012600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:100993600-101006000	Weak transcription	Stomach Mucosa	stomach
31	chr9:100993600-101010400	Weak transcription	Left Ventricle	heart
32	chr9:100994600-101003000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr9:100995000-101016600	Weak transcription	Brain Angular Gyrus	brain
34	chr9:100995200-101006400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:100995200-101010200	Weak transcription	NHDF-Ad	bronchial
36	chr9:100995400-100999600	Strong transcription	HMEC	breast
37	chr9:100995400-101010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:100995600-101000000	Strong transcription	NHEK	skin
39	chr9:100995800-100999400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:100995800-100999400	Strong transcription	HSMM	muscle
41	chr9:100995800-100999800	Enhancers	K562	blood
42	chr9:100995800-101001000	Enhancers	Fetal Intestine Large	intestine
43	chr9:100995800-101002600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr9:100995800-101003200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:100995800-101003400	Weak transcription	Hela-S3	cervix
46	chr9:100995800-101006200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr9:100995800-101006200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:100995800-101010400	Weak transcription	Adipose Nuclei	Adipose
49	chr9:100995800-101011200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr9:100996000-100999200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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