Variant report

Variant	esv3374257
Chromosome Location	chr7:102636550-102671589
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	chr7:102665631-102666396	K562	blood:	n/a	n/a
2	ATF1	chr7:102665793-102666198	K562	blood:	n/a	n/a
3	BACH1	chr7:102670389-102670430	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:102665712-102665735	K562	blood:	n/a	n/a
5	CBX3	chr7:102665666-102666259	K562	blood:	n/a	n/a
6	CBX3	chr7:102643362-102643762	HCT-116	colon:	n/a	n/a
7	CBX3	chr7:102643394-102643836	K562	blood:	n/a	n/a
8	CBX3	chr7:102643449-102643794	HCT-116	colon:	n/a	n/a
9	CBX3	chr7:102643432-102643742	K562	blood:	n/a	n/a
10	CBX3	chr7:102656866-102657209	K562	blood:	n/a	n/a
11	CCNT2	chr7:102665832-102666143	K562	blood:	n/a	n/a
12	CEBPB	chr7:102637213-102637347	K562	blood:	n/a	n/a
13	CEBPB	chr7:102637216-102637421	HepG2	liver:	n/a	chr7:102637344-102637355
14	CEBPD	chr7:102665731-102666289	K562	blood:	n/a	n/a
15	CEBPD	chr7:102665739-102666176	K562	blood:	n/a	n/a
16	CTCF	chr7:102636400-102636550	HCT-116	colon:	n/a	n/a
17	CTCF	chr7:102666860-102667010	GM12867	blood:	n/a	n/a
18	CTCF	chr7:102650060-102650210	NHEK	skin:	n/a	n/a
19	CTCF	chr7:102650100-102650250	GM12871	blood:	n/a	n/a
20	CUX1	chr7:102665712-102666260	K562	blood:	n/a	n/a
21	EBF1	chr7:102649737-102650086	GM12878	blood:	n/a	chr7:102649893-102649904
22	ELF1	chr7:102665787-102666091	K562	blood:	n/a	chr7:102665942-102665955
23	ELK1	chr7:102670882-102670998	Hela-S3	cervix:	n/a	n/a
24	EP300	chr7:102643511-102643667	K562	blood:	n/a	n/a
25	EP300	chr7:102665773-102666302	K562	blood:	n/a	n/a
26	EP300	chr7:102665631-102665772	GM12878	blood:	n/a	n/a
27	EP300	chr7:102668841-102668844	GM12878	blood:	n/a	n/a
28	FOS	chr7:102646726-102646980	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr7:102652151-102652454	MCF10A-Er-Src	breast:	n/a	chr7:102652310-102652321
30	FOS	chr7:102652173-102652412	MCF10A-Er-Src	breast:	n/a	chr7:102652310-102652321
31	FOS	chr7:102652169-102652429	MCF10A-Er-Src	breast:	n/a	chr7:102652310-102652321
32	FOS	chr7:102652174-102652455	MCF10A-Er-Src	breast:	n/a	chr7:102652310-102652321
33	FOS	chr7:102652144-102652473	HUVEC	blood vessel:	n/a	chr7:102652310-102652321
34	FOSL2	chr7:102652207-102652422	HepG2	liver:	n/a	n/a
35	FOSL2	chr7:102652089-102652452	A549	lung:	n/a	n/a
36	FOXA2	chr7:102657105-102657410	A549	lung:	n/a	n/a
37	GATA1	chr7:102665647-102666042	PBDE	blood:	n/a	chr7:102666024-102666040 chr7:102666027-102666036
38	GATA1	chr7:102665363-102666227	K562	blood:	n/a	chr7:102666024-102666040 chr7:102666022-102666043 chr7:102666027-102666036
39	GATA2	chr7:102665809-102666135	K562	blood:	n/a	chr7:102666024-102666040 chr7:102666022-102666043 chr7:102666027-102666036
40	GATA2	chr7:102665826-102666131	K562	blood:	n/a	chr7:102666024-102666040 chr7:102666022-102666043 chr7:102666027-102666036
41	GATA2	chr7:102665737-102666212	K562	blood:	n/a	chr7:102666024-102666040 chr7:102666022-102666043 chr7:102666027-102666036
42	GATA3	chr7:102665839-102666112	SH-SY5Y	brain:	n/a	chr7:102666024-102666040 chr7:102666022-102666043 chr7:102666027-102666036
43	GATA3	chr7:102639829-102640115	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr7:102638564-102638676	SH-SY5Y	brain:	n/a	n/a
45	GTF2F1	chr7:102653549-102653559	H1-hESC	embryonic stem cell:	n/a	n/a
46	GTF2F1	chr7:102643456-102643477	H1-hESC	embryonic stem cell:	n/a	n/a
47	HMGN3	chr7:102665797-102666127	K562	blood:	n/a	n/a
48	IRF1	chr7:102664952-102665145	K562	blood:	n/a	chr7:102665025-102665042 chr7:102665023-102665037 chr7:102665025-102665037 chr7:102665022-102665036 chr7:102665026-102665040 chr7:102665026-102665036 chr7:102665024-102665037 chr7:102665026-102665037 chr7:102665025-102665037 chr7:102665027-102665038 chr7:102665024-102665037
49	IRF1	chr7:102665818-102666339	K562	blood:	n/a	n/a
50	IRF1	chr7:102665699-102666238	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102640940..102642955-chr7:102645628..102648374,3	K562	blood:
2	chr7:102632696..102634274-chr7:102635865..102637462,2	K562	blood:
3	chr7:102646044..102648834-chr7:102650144..102652467,2	MCF-7	breast:
4	chr7:102668475..102669456-chr8:43092888..43093807,3	MCF-7	breast:
5	chr7:102635238..102638493-chr7:102639697..102643321,6	K562	blood:
6	chr7:102636271..102640995-chr7:102641350..102643321,4	K562	blood:
7	chr7:102635101..102637212-chr7:102643371..102644977,2	K562	blood:
8	chr7:102640940..102644654-chr7:102645333..102648344,5	K562	blood:
9	chr7:102665867..102668570-chr7:102674851..102677774,2	K562	blood:
10	chr7:102640940..102642955-chr7:102645628..102648374,3	K562	blood:
11	chr7:102640940..102644654-chr7:102645333..102648344,5	K562	blood:
12	chr7:102646044..102648834-chr7:102650144..102652467,2	MCF-7	breast:
13	chr7:102644321..102646780-chr7:102650241..102652057,2	K562	blood:
14	chr7:102648277..102650266-chr7:102675319..102678268,2	K562	blood:
15	chr7:102635238..102638493-chr7:102639697..102643321,6	K562	blood:
16	chr7:102636271..102640995-chr7:102641350..102643321,4	K562	blood:
17	chr7:102635365..102636884-chr7:102714071..102717009,2	K562	blood:
18	chr7:102664540..102668660-chr7:102669419..102673254,7	K562	blood:
19	chr7:102665532..102667665-chr7:102714166..102717204,3	K562	blood:
20	chr7:102635101..102637212-chr7:102643371..102644977,2	K562	blood:
21	chr7:102629921..102632610-chr7:102634773..102637196,3	K562	blood:
22	chr7:102644321..102646780-chr7:102650241..102652057,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARMC10-1	chr7:102670551-102670587	ENSG00000236226.1
2	lnc-ARMC10-1	chr7:102671506-102671801	ENSG00000236226.1

Variant related genes	Relation type
ENSG00000264045	TF binding region
ENSG00000236226	TF binding region
ENSG00000161040	chromatin interactions
ENSG00000236226	chromatin interactions
ENSG00000170632	chromatin interactions

Extended variants
information (count: 1197 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1197 , 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	rs190697953	chr7:102636562-102636563	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368425201	chr7:102636575-102636576	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs116063579	chr7:102636576-102636577	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs549679187	chr7:102636594-102636595	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553417341	chr7:102636597-102636598	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571741625	chr7:102636616-102636617	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs542193749	chr7:102636643-102636644	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567504516	chr7:102636650-102636651	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576246417	chr7:102636651-102636652	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534906216	chr7:102636672-102636673	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543658881	chr7:102636696-102636697	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148689054	chr7:102636828-102636829	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532321405	chr7:102636935-102636936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1524420	chr7:102637044-102637045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545536143	chr7:102637056-102637057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183450885	chr7:102637063-102637064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560555238	chr7:102637091-102637092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527717192	chr7:102637126-102637127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549106458	chr7:102637189-102637190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35351280	chr7:102637213-102637214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539586394	chr7:102637220-102637221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567991178	chr7:102637225-102637226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531921941	chr7:102637265-102637266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188017010	chr7:102637298-102637299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546263644	chr7:102637300-102637301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191235966	chr7:102637311-102637312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538831948	chr7:102637312-102637313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182955833	chr7:102637316-102637317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565432357	chr7:102637318-102637319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs67993916	chr7:102637355-102637356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538590292	chr7:102637419-102637420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554275490	chr7:102637459-102637460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556677877	chr7:102637514-102637515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575944271	chr7:102637525-102637526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11982764	chr7:102637538-102637539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569859515	chr7:102637607-102637608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558784168	chr7:102637663-102637664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564171632	chr7:102637722-102637723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541206883	chr7:102637777-102637778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560616938	chr7:102637784-102637785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572563748	chr7:102637851-102637852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543067364	chr7:102638001-102638002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147433061	chr7:102638151-102638152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575222195	chr7:102638175-102638176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34839273	chr7:102638192-102638193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536138942	chr7:102638235-102638236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531697294	chr7:102638266-102638267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139627667	chr7:102638280-102638281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565215455	chr7:102638359-102638360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187251166	chr7:102638389-102638390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102623800-102636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:102633400-102644600	Weak transcription	Aorta	Aorta
3	chr7:102633400-102650800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102634200-102636600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:102634200-102647800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:102635400-102636600	Weak transcription	A549	lung
7	chr7:102635600-102636800	Weak transcription	K562	blood
8	chr7:102636400-102637200	Enhancers	HepG2	liver
9	chr7:102636600-102637000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:102636600-102637000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:102636600-102637000	Enhancers	A549	lung
12	chr7:102636800-102637000	Enhancers	K562	blood
13	chr7:102636800-102637800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:102640400-102666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:102640600-102644400	Weak transcription	Gastric	stomach
16	chr7:102642600-102643000	Weak transcription	HUVEC	blood vessel
17	chr7:102643000-102643200	ZNF genes & repeats	HUVEC	blood vessel
18	chr7:102643200-102643800	Weak transcription	HUVEC	blood vessel
19	chr7:102644400-102645200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr7:102644600-102645400	Strong transcription	Aorta	Aorta
21	chr7:102645000-102648200	Weak transcription	Psoas Muscle	Psoas
22	chr7:102645200-102655800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:102645400-102646800	Weak transcription	Aorta	Aorta
24	chr7:102646600-102649400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:102646600-102650800	Weak transcription	Ovary	ovary
26	chr7:102647200-102647400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:102647400-102649400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:102647400-102650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:102647600-102647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:102647800-102649400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:102648000-102650200	Weak transcription	Esophagus	oesophagus
32	chr7:102648200-102648400	Enhancers	Psoas Muscle	Psoas
33	chr7:102649400-102650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:102649400-102650600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:102649400-102651400	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:102649600-102651400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:102649600-102651400	Enhancers	Fetal Thymus	thymus
38	chr7:102649600-102651800	Enhancers	Primary B cells from peripheral blood	blood
39	chr7:102649800-102651000	Enhancers	Pancreas	Pancrea
40	chr7:102650000-102650600	Enhancers	Lung	lung
41	chr7:102650000-102650800	Enhancers	HUVEC	blood vessel
42	chr7:102650000-102651000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr7:102650000-102651000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:102650000-102651000	Enhancers	Stomach Mucosa	stomach
45	chr7:102650000-102651200	Enhancers	Thymus	Thymus
46	chr7:102650000-102651400	Enhancers	Gastric	stomach
47	chr7:102650000-102651400	Enhancers	Spleen	Spleen
48	chr7:102650200-102650600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:102650200-102650800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr7:102650200-102650800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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