Variant report

Variant	esv2762823
Chromosome Location	chr9:100083872-100105782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:100102258-100102277	HepG2	liver:	n/a	n/a
2	CTCF	chr9:100090874-100090893	A549	lung:	n/a	n/a
3	CTCF	chr9:100102773-100102964	K562	blood:	n/a	n/a
4	CTCF	chr9:100090886-100090972	H1-hESC	embryonic stem cell:	n/a	chr9:100090892-100090905 chr9:100090920-100090933
5	CTCF	chr9:100102890-100103071	A549	lung:	n/a	n/a
6	CTCF	chr9:100102789-100103122	K562	blood:	n/a	n/a
7	CTCF	chr9:100096665-100096734	Medullo	brain:	n/a	n/a
8	CTCF	chr9:100102872-100103036	A549	lung:	n/a	n/a
9	CTCF	chr9:100083920-100084070	Caco-2	colon:	n/a	n/a
10	E2F4	chr9:100105198-100105395	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL2	chr9:100103243-100103617	HepG2	liver:	n/a	n/a
12	FOXA2	chr9:100103923-100104401	A549	lung:	n/a	n/a
13	JUND	chr9:100102896-100103063	HepG2	liver:	n/a	n/a
14	MAX	chr9:100085001-100085244	K562	blood:	n/a	n/a
15	MAX	chr9:100084061-100084330	K562	blood:	n/a	chr9:100084242-100084251 chr9:100084241-100084252 chr9:100084240-100084253 chr9:100084244-100084260 chr9:100084241-100084251 chr9:100084242-100084251 chr9:100084241-100084252 chr9:100084242-100084252 chr9:100084242-100084251
16	MAX	chr9:100084889-100085365	K562	blood:	n/a	n/a
17	MAX	chr9:100085022-100085212	K562	blood:	n/a	n/a
18	MYC	chr9:100085008-100085175	K562	blood:	n/a	n/a
19	MYC	chr9:100084936-100085282	K562	blood:	n/a	n/a
20	PAX5	chr9:100102895-100103125	GM12878	blood:	n/a	n/a
21	PBX3	chr9:100095734-100095826	GM12878	blood:	n/a	n/a
22	POLR2A	chr9:100083985-100084022	K562	blood:	n/a	n/a
23	POLR2A	chr9:100092942-100093081	K562	blood:	n/a	n/a
24	POLR2A	chr9:100083928-100084022	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr9:100089720-100090352	ECC-1	luminal epithelium:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
26	REST	chr9:100089825-100090187	PFSK-1	brain:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
27	REST	chr9:100089925-100090262	PANC-1	pancreas:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
28	REST	chr9:100089800-100090218	MCF-7	breast:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
29	REST	chr9:100089869-100090198	K562	blood:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
30	REST	chr9:100089667-100090296	ECC-1	luminal epithelium:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
31	REST	chr9:100089849-100090167	PFSK-1	brain:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
32	REST	chr9:100089914-100090157	H1-hESC	embryonic stem cell:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
33	REST	chr9:100089989-100090112	K562	blood:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
34	REST	chr9:100089854-100090185	SK-N-SH	brain:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
35	REST	chr9:100089896-100090139	Hela-S3	cervix:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
36	REST	chr9:100089881-100090169	HL-60	blood:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
37	REST	chr9:100089970-100090154	Hela-S3	cervix:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
38	REST	chr9:100089861-100090159	H1-hESC	embryonic stem cell:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
39	REST	chr9:100089797-100090284	HL-60	blood:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
40	REST	chr9:100089799-100090258	MCF-7	breast:	n/a	chr9:100090051-100090064 chr9:100090047-100090061 chr9:100090047-100090067 chr9:100090053-100090062
41	TAL1	chr9:100084910-100085172	K562	blood:	n/a	chr9:100084932-100084950
42	TEAD4	chr9:100089835-100090175	A549	lung:	n/a	n/a
43	USF1	chr9:100103264-100103368	HepG2	liver:	n/a	n/a
44	USF1	chr9:100103267-100103443	HepG2	liver:	n/a	n/a
45	ZNF143	chr9:100104242-100104347	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF263	chr9:100092780-100093097	HEK293-T-REx	kidney:	n/a	chr9:100092958-100092979 chr9:100092988-100093009
47	ZNF263	chr9:100085918-100086472	HEK293-T-REx	kidney:	n/a	n/a
48	ZNF263	chr9:100090714-100091071	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100090170..100093092-chr9:100095613..100097263,2	K562	blood:
2	chr9:100075658..100077639-chr9:100081939..100084520,2	MCF-7	breast:
3	chr9:100080706..100082432-chr9:100085072..100087205,2	K562	blood:

Variant related genes	Relation type
CCDC180	TF binding region
ENSG00000197816	chromatin interactions

Extended variants
information (count: 896 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4345679	chr9:100083872-100083873	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141536873	chr9:100083882-100083883	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368545418	chr9:100083884-100083885	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537592964	chr9:100083923-100083924	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4237189	chr9:100083953-100083954	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs180754711	chr9:100083954-100083955	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534839856	chr9:100083961-100083962	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553308826	chr9:100084073-100084074	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146385775	chr9:100084074-100084075	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535467676	chr9:100084144-100084145	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556792489	chr9:100084160-100084161	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575192782	chr9:100084166-100084167	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545969284	chr9:100084167-100084168	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35381140	chr9:100084199-100084200	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557705017	chr9:100084245-100084246	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7466408	chr9:100084246-100084247	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139767437	chr9:100084295-100084296	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186005345	chr9:100084319-100084320	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142915548	chr9:100084364-100084365	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114261836	chr9:100084368-100084369	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529620938	chr9:100084396-100084397	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544228614	chr9:100084403-100084404	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189940524	chr9:100084478-100084479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571484986	chr9:100084494-100084495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372957082	chr9:100084498-100084499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567449434	chr9:100084504-100084505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376826716	chr9:100084641-100084642	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552722123	chr9:100084660-100084661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570984721	chr9:100084716-100084717	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73559874	chr9:100084753-100084754	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs59130078	chr9:100084790-100084791	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370841231	chr9:100084806-100084807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546743159	chr9:100084811-100084812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534071411	chr9:100084826-100084827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535455677	chr9:100084836-100084837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74982444	chr9:100084839-100084840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568796413	chr9:100084870-100084871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539382428	chr9:100084886-100084887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558057314	chr9:100084960-100084961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3747501	chr9:100084976-100084977	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs3747500	chr9:100084985-100084986	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182529751	chr9:100085015-100085016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573824921	chr9:100085060-100085061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544214581	chr9:100085061-100085062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562499876	chr9:100085074-100085075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370350226	chr9:100085109-100085110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531213284	chr9:100085116-100085117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142121305	chr9:100085126-100085127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374936508	chr9:100085135-100085136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367967921	chr9:100085141-100085142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100069400-100092800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:100069600-100094400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:100069800-100086400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:100070000-100091400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:100070000-100093800	Weak transcription	Psoas Muscle	Psoas
6	chr9:100070000-100098000	Weak transcription	Small Intestine	intestine
7	chr9:100070000-100100200	Weak transcription	Fetal Heart	heart
8	chr9:100070000-100131400	Weak transcription	Fetal Kidney	kidney
9	chr9:100070200-100092600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:100070200-100095000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:100070400-100091800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:100070400-100092800	Weak transcription	Colonic Mucosa	Colon
13	chr9:100070400-100095200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:100070600-100089600	Weak transcription	Osteobl	bone
15	chr9:100071000-100094400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:100071200-100093000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr9:100071600-100084000	Strong transcription	Fetal Muscle Leg	muscle
18	chr9:100071600-100088800	Strong transcription	Brain Germinal Matrix	brain
19	chr9:100071600-100089200	Strong transcription	Fetal Intestine Small	intestine
20	chr9:100071600-100093000	Strong transcription	Fetal Stomach	stomach
21	chr9:100071600-100093400	Strong transcription	Brain Anterior Caudate	brain
22	chr9:100071600-100093800	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr9:100071600-100093800	Strong transcription	Ovary	ovary
24	chr9:100071600-100094600	Strong transcription	Brain Angular Gyrus	brain
25	chr9:100071800-100084400	Strong transcription	Aorta	Aorta
26	chr9:100071800-100093400	Strong transcription	Adipose Nuclei	Adipose
27	chr9:100071800-100093600	Strong transcription	Left Ventricle	heart
28	chr9:100073000-100089200	Strong transcription	Brain Hippocampus Middle	brain
29	chr9:100075200-100085000	Weak transcription	Esophagus	oesophagus
30	chr9:100075600-100089600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:100076000-100093200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:100076000-100093600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:100076200-100092400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:100077000-100106400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr9:100077000-100140800	Weak transcription	Fetal Brain Male	brain
36	chr9:100078000-100084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:100078000-100087800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:100078000-100089000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:100078000-100091800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr9:100078200-100084600	Weak transcription	K562	blood
41	chr9:100078200-100091800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:100078400-100085000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:100078400-100087400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:100078400-100092800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr9:100078600-100085400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr9:100078800-100085000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:100079000-100085000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:100079400-100084000	Weak transcription	Pancreas	Pancrea
49	chr9:100079400-100089600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:100079600-100084000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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