Variant report

Variant	esv2829882
Chromosome Location	chr7:118009306-118222312
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	ARID3A	chr7:118012833-118013033	K562	blood:	n/a	n/a
2	ATF1	chr7:118012742-118013071	K562	blood:	n/a	n/a
3	ATF1	chr7:118220891-118221233	K562	blood:	n/a	n/a
4	BCL3	chr7:118190675-118190889	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:118010227-118010298	K562	blood:	n/a	n/a
6	CBX3	chr7:118203416-118203652	K562	blood:	n/a	n/a
7	CBX3	chr7:118199295-118199715	HCT-116	colon:	n/a	n/a
8	CBX3	chr7:118199246-118199622	K562	blood:	n/a	n/a
9	CBX3	chr7:118121291-118121673	K562	blood:	n/a	n/a
10	CBX3	chr7:118199240-118199631	K562	blood:	n/a	n/a
11	CCNT2	chr7:118031384-118031548	K562	blood:	n/a	n/a
12	CCNT2	chr7:118220999-118221199	K562	blood:	n/a	n/a
13	CEBPB	chr7:118048250-118048491	A549	lung:	n/a	n/a
14	CEBPB	chr7:118102849-118103117	HepG2	liver:	n/a	chr7:118102943-118102954
15	CEBPB	chr7:118157947-118158188	HepG2	liver:	n/a	chr7:118158039-118158050 chr7:118158037-118158050 chr7:118158037-118158048
16	CEBPB	chr7:118053667-118053871	HepG2	liver:	n/a	chr7:118053800-118053817 chr7:118053805-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053814
17	CEBPB	chr7:118015285-118015597	HepG2	liver:	n/a	chr7:118015417-118015426 chr7:118015415-118015426 chr7:118015417-118015428 chr7:118015412-118015429
18	CEBPB	chr7:118019517-118019842	A549	lung:	n/a	chr7:118019682-118019693
19	CEBPB	chr7:118164057-118164303	IMR90	lung:	n/a	n/a
20	CEBPB	chr7:118051023-118051220	A549	lung:	n/a	chr7:118051207-118051220
21	CEBPB	chr7:118221126-118221199	K562	blood:	n/a	n/a
22	CEBPB	chr7:118118721-118118929	K562	blood:	n/a	chr7:118118794-118118805
23	CEBPB	chr7:118220909-118221215	K562	blood:	n/a	n/a
24	CEBPB	chr7:118053690-118053894	IMR90	lung:	n/a	chr7:118053800-118053817 chr7:118053805-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053814
25	CEBPB	chr7:118015255-118015604	IMR90	lung:	n/a	chr7:118015417-118015426 chr7:118015415-118015426 chr7:118015417-118015428 chr7:118015412-118015429
26	CEBPB	chr7:118157869-118158117	K562	blood:	n/a	chr7:118158039-118158050 chr7:118158037-118158050 chr7:118158037-118158048
27	CEBPB	chr7:118009042-118009326	HepG2	liver:	n/a	chr7:118009179-118009190
28	CEBPB	chr7:118102908-118103052	K562	blood:	n/a	chr7:118102943-118102954
29	CEBPB	chr7:118015270-118015535	K562	blood:	n/a	chr7:118015417-118015426 chr7:118015415-118015426 chr7:118015417-118015428 chr7:118015412-118015429
30	CEBPB	chr7:118118740-118118930	H1-hESC	embryonic stem cell:	n/a	chr7:118118794-118118805
31	CEBPB	chr7:118019508-118019872	HepG2	liver:	n/a	chr7:118019682-118019693
32	CEBPB	chr7:118009030-118009409	A549	lung:	n/a	chr7:118009179-118009190
33	CEBPB	chr7:118118707-118118968	HepG2	liver:	n/a	chr7:118118794-118118805
34	CEBPB	chr7:118019539-118019852	IMR90	lung:	n/a	chr7:118019682-118019693
35	CEBPB	chr7:118118651-118118956	IMR90	lung:	n/a	chr7:118118794-118118805
36	CEBPB	chr7:118019603-118019854	K562	blood:	n/a	chr7:118019682-118019693
37	CEBPB	chr7:118015257-118015542	A549	lung:	n/a	chr7:118015417-118015426 chr7:118015415-118015426 chr7:118015417-118015428 chr7:118015412-118015429
38	CTCF	chr7:118121538-118121558	GM10266	blood:	n/a	n/a
39	CTCF	chr7:118066554-118066609	Lung_OC	lung:	n/a	n/a
40	CTCF	chr7:118073313-118073383	Lung_OC	lung:	n/a	n/a
41	CTCF	chr7:118077440-118077590	HepG2	liver:	n/a	n/a
42	CTCF	chr7:118029180-118029330	Caco-2	colon:	n/a	n/a
43	CTCF	chr7:118038940-118039090	RPTEC	kidney:	n/a	n/a
44	CTCF	chr7:118147060-118147210	HMEC	breast:	n/a	n/a
45	CTCF	chr7:118039063-118039189	MCF-7	breast:	n/a	n/a
46	CTCF	chr7:118064600-118064750	NB4	blood:	n/a	n/a
47	CTCF	chr7:118147150-118147228	GM12878	blood:	n/a	n/a
48	CTCF	chr7:118014880-118015030	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr7:118139063-118139122	GM20000	blood:	n/a	n/a
50	CTCF	chr7:118080166-118080227	Spleen_OC	spleen:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:118055742..118058458-chr7:118058917..118061790,2	K562	blood:
2	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
3	chr7:118094852..118097400-chr7:118111770..118114661,2	K562	blood:
4	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
5	chr7:118093376..118097334-chr7:118098069..118100577,4	K562	blood:
6	chr7:118098838..118101158-chr7:118104567..118106399,2	K562	blood:
7	chr7:118093376..118097334-chr7:118098069..118100577,4	K562	blood:
8	chr7:118115547..118117412-chr7:118338324..118340087,2	K562	blood:
9	chr7:118064259..118066722-chr7:118067170..118069262,2	K562	blood:
10	chr7:118098838..118101158-chr7:118104567..118106399,2	K562	blood:
11	chr7:118055742..118058458-chr7:118058917..118061790,2	K562	blood:
12	chr7:118093376..118094985-chr7:118098864..118100577,2	K562	blood:
13	chr7:118088557..118090123-chr7:118090834..118093671,2	K562	blood:
14	chr7:118055217..118057718-chr7:118101905..118103511,2	K562	blood:
15	chr7:118088557..118090123-chr7:118090834..118093671,2	K562	blood:
16	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
17	chr7:118103032..118104832-chr7:118107193..118108816,2	K562	blood:
18	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
19	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
20	chr7:118002902..118005876-chr7:118043767..118045585,2	K562	blood:
21	chr7:118094852..118097400-chr7:118111770..118114661,2	K562	blood:
22	chr7:118057355..118058880-chr7:118063444..118065821,2	MCF-7	breast:
23	chr7:118064259..118066722-chr7:118067170..118069262,2	K562	blood:
24	chr7:118057355..118058880-chr7:118063444..118065821,2	MCF-7	breast:
25	chr7:118103032..118104832-chr7:118107193..118108816,2	K562	blood:
26	chr7:118222091..118224813-chr7:118367920..118370532,2	K562	blood:
27	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
28	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
29	chr7:118093376..118094985-chr7:118098864..118100577,2	K562	blood:
30	chr7:118126613..118129053-chr7:118300054..118302327,2	K562	blood:

Variant related genes	Relation type
ENSG00000222226	TF binding region
ENSG00000222226	chromatin interactions

Extended variants
information (count: 1172 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1172 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539527045	chr7:118011616-118011617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557801106	chr7:118011679-118011680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575972699	chr7:118011741-118011742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543361642	chr7:118011761-118011762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563046879	chr7:118011772-118011773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144587167	chr7:118011801-118011802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542063620	chr7:118011860-118011861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560289530	chr7:118011900-118011901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117427007	chr7:118011914-118011915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185977112	chr7:118011921-118011922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148198392	chr7:118011961-118011962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564591012	chr7:118011994-118011995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533195350	chr7:118012026-118012027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549763145	chr7:118012028-118012029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568311460	chr7:118012031-118012032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535725422	chr7:118012040-118012041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547648265	chr7:118012095-118012096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565900088	chr7:118012166-118012167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141183370	chr7:118012193-118012194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570018178	chr7:118012216-118012217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529507230	chr7:118012267-118012268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557573879	chr7:118012333-118012334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150325167	chr7:118012361-118012362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370940601	chr7:118012369-118012370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549572661	chr7:118012374-118012375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536685001	chr7:118012386-118012387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555336420	chr7:118012392-118012393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574818793	chr7:118012443-118012444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138033393	chr7:118012448-118012449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554010072	chr7:118012470-118012471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572327512	chr7:118012491-118012492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546330747	chr7:118012529-118012530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564463901	chr7:118012586-118012587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566116675	chr7:118012598-118012599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531831204	chr7:118012609-118012610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192055901	chr7:118012611-118012612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374410559	chr7:118012612-118012613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76915347	chr7:118012655-118012656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529273176	chr7:118012710-118012711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182323510	chr7:118012813-118012814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565935764	chr7:118012854-118012855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372172701	chr7:118012891-118012892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533175102	chr7:118012894-118012895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551542050	chr7:118012925-118012926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149521073	chr7:118012957-118012958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537125897	chr7:118012967-118012968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553618786	chr7:118012986-118012987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555101007	chr7:118013022-118013023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565606153	chr7:118013075-118013076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566937582	chr7:118013083-118013084	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118011600-118013800	Enhancers	Dnd41	blood
2	chr7:118012400-118012800	Enhancers	Fetal Lung	lung
3	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:118012600-118013000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:118012600-118013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:118018400-118018800	Enhancers	Fetal Stomach	stomach
9	chr7:118025600-118026000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:118025600-118026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:118026000-118027400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:118026000-118027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:118027000-118027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:118027400-118028000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:118043000-118043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:118043000-118043200	Enhancers	Pancreas	Pancrea
17	chr7:118043000-118043200	Enhancers	Right Ventricle	heart
18	chr7:118072800-118073000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:118072800-118073000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:118072800-118073400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:118073000-118073400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:118073200-118073400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:118073400-118077800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:118075200-118076200	ZNF genes & repeats	Pancreas	Pancrea
25	chr7:118093000-118093400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:118107400-118108400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:118113400-118113600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:118117000-118120400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:118132600-118133000	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:118132600-118133800	Enhancers	Fetal Brain Male	brain
31	chr7:118142000-118142200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:118142200-118142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:118142400-118142600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:118142400-118142800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:118150600-118151000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:118151000-118151400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:118151000-118151600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:118151000-118151600	Enhancers	Brain Hippocampus Middle	brain
39	chr7:118151600-118152600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:118156000-118158000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:118168600-118168800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:118176600-118176800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:118177200-118178200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:118177800-118178200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:118178200-118178800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:118178200-118179000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:118178400-118179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:118178400-118179200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:118212200-118213400	Enhancers	Fetal Brain Female	brain
50	chr7:118212800-118213000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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