Variant report

Variant	esv1798527
Chromosome Location	chr7:7130061-7140115
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187538048..187541049-chr7:7133355..7136702,3	MCF-7	breast:
2	chr7:7139222..7141450-chr7:7606351..7608422,2	K562	blood:
3	chr1:176176383..176176965-chr7:7135101..7135756,2	Hela-S3	cervix:
4	chr7:7133060..7138358-chr7:7139035..7145054,9	K562	blood:
5	chr7:7133633..7139012-chr7:7139035..7144614,7	K562	blood:
6	chr7:7138712..7144572-chr7:7219459..7223789,7	K562	blood:
7	chr7:7139063..7141673-chr7:7144287..7145917,3	K562	blood:
8	chr7:7138294..7142693-chr7:7219176..7223789,9	K562	blood:
9	chr7:7138954..7142167-chr7:7147742..7150390,3	K562	blood:
10	chr7:7134412..7137246-chr7:7225961..7227712,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCZ1B-6	chr7:7136332-7136350	NONHSAT119099
2	lnc-CCZ1B-6	chr7:7136382-7136779	NONHSAT119099

No data

Variant related genes	Relation type
ENSG00000201218	chromatin interactions
ENSG00000272894	chromatin interactions
ENSG00000106392	chromatin interactions
ENSG00000236021	chromatin interactions
ENSG00000164654	chromatin interactions
ENSG00000143207	chromatin interactions

Extended variants
information (count: 443 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2043222	chr7:7130061-7130062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549454107	chr7:7130146-7130147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539828671	chr7:7130172-7130173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1368053	chr7:7130201-7130202	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182774109	chr7:7130206-7130207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565657597	chr7:7130298-7130299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs985055	chr7:7130302-7130303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs985054	chr7:7130385-7130386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575813235	chr7:7130415-7130416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544484767	chr7:7130422-7130423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1319628	chr7:7130429-7130430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368736276	chr7:7130468-7130469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117178139	chr7:7130480-7130481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552158833	chr7:7130489-7130490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573614386	chr7:7130490-7130491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4523156	chr7:7130497-7130498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201147363	chr7:7130509-7130510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs5882107	chr7:7130510-7130511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202058072	chr7:7130511-7130512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541025303	chr7:7130513-7130514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1319627	chr7:7130532-7130533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs578258194	chr7:7130545-7130546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545693364	chr7:7130555-7130556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563918951	chr7:7130556-7130557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375281210	chr7:7130580-7130581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549267591	chr7:7130590-7130591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147951129	chr7:7130601-7130602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528548137	chr7:7130631-7130632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141580495	chr7:7130660-7130661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111471614	chr7:7130690-7130691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537480925	chr7:7130708-7130709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74547068	chr7:7130809-7130810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576972867	chr7:7130810-7130811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551262474	chr7:7130813-7130814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569557726	chr7:7130826-7130827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374056452	chr7:7130843-7130844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1160673	chr7:7130847-7130848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188318041	chr7:7130869-7130870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116610213	chr7:7130882-7130883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1160672	chr7:7130907-7130908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553032053	chr7:7130910-7130911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554760365	chr7:7130941-7130942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6978588	chr7:7130950-7130951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs80082950	chr7:7130966-7130967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376974835	chr7:7131040-7131041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529921844	chr7:7131069-7131070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114071545	chr7:7131081-7131082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192053560	chr7:7131082-7131083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370285645	chr7:7131095-7131096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56332325	chr7:7131180-7131181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7128400-7138600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:7129600-7131400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:7130000-7130600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:7131400-7133200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:7133200-7133600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:7133400-7133600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:7133400-7133600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:7133400-7133600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:7133400-7133600	Enhancers	Colon Smooth Muscle	Colon
10	chr7:7133400-7133800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:7133600-7138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:7133600-7138400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:7133600-7139800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:7133800-7134200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:7133800-7138400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:7133800-7139000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:7134000-7134400	Enhancers	Fetal Stomach	stomach
18	chr7:7134200-7134400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:7134200-7134400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:7134200-7134400	Enhancers	Spleen	Spleen
21	chr7:7134400-7134800	Weak transcription	Spleen	Spleen
22	chr7:7134400-7135200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:7134400-7137200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:7134400-7139200	Weak transcription	Fetal Stomach	stomach
25	chr7:7134600-7139800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:7135200-7136000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:7135400-7139200	Weak transcription	Pancreas	Pancrea
28	chr7:7136000-7136400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:7136000-7136400	Bivalent Enhancer	HepG2	liver
30	chr7:7136200-7136400	ZNF genes & repeats	K562	blood
31	chr7:7136400-7137600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:7136400-7137600	Weak transcription	K562	blood
33	chr7:7137000-7138800	Weak transcription	HepG2	liver
34	chr7:7137200-7139400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:7137600-7138000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:7137600-7138400	Enhancers	K562	blood
37	chr7:7137600-7138600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:7137800-7138400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:7137800-7139600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:7137800-7141000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:7138000-7138400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:7138000-7139200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr7:7138000-7139600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:7138000-7139600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:7138000-7140800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:7138000-7141200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:7138200-7140600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:7138200-7141200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:7138200-7141800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:7138400-7138600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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