Variant report

Variant	esv2761105
Chromosome Location	chr7:125819539-126001675
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:17)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
2	chr7:125981506..125983615-chr7:125985975..125988885,2	K562	blood:
3	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
4	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
5	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
6	chr7:125842751..125845029-chr7:125853403..125855723,2	K562	blood:
7	chr7:125990319..125992216-chr7:125992809..125995290,2	K562	blood:
8	chr7:125981506..125983615-chr7:125985975..125988885,2	K562	blood:
9	chr7:125842751..125845029-chr7:125853403..125855723,2	K562	blood:
10	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
11	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
12	chr7:125990319..125992216-chr7:125992809..125995290,2	K562	blood:
13	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
14	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
15	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
16	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
17	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
2	lnc-ARF5-5	chr7:125886687-125886768	NONHSAT123116
3	lnc-ARF5-5	chr7:125924175-125924312	XLOC_006235
4	lnc-ARF5-5	chr7:125886687-125886768	XLOC_006235
5	lnc-ARF5-5	chr7:125886687-125886785	XLOC_006235
6	lnc-ARF5-5	chr7:125873713-125873937	NONHSAT123116
7	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
8	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
9	lnc-ARF5-5	chr7:125891205-125891250	NONHSAT123116
10	lnc-ARF5-5	chr7:125924175-125924216	XLOC_006235
11	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
12	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
13	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235

No data

Variant related genes	Relation type
SLC33A1	miRNA target sites
FBXW7	miRNA target sites
SLC31A2	miRNA target sites
SLC30A7	miRNA target sites
FBXO8	miRNA target sites
FBXO34	miRNA target sites

Extended variants
information (count: 731 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17149386	chr7:125819539-125819540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77454867	chr7:125819550-125819551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535997757	chr7:125819575-125819576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554492484	chr7:125819602-125819603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs489373	chr7:125819635-125819636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs543488162	chr7:125819670-125819671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73434802	chr7:125819687-125819688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144209459	chr7:125819697-125819698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200741737	chr7:125819700-125819701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs585179	chr7:125819707-125819708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs559837884	chr7:125819731-125819732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs490307	chr7:125819732-125819733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146557518	chr7:125819736-125819737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575001491	chr7:125819754-125819755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190580358	chr7:125819773-125819774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565677005	chr7:125819799-125819800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571234194	chr7:125819803-125819804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542814746	chr7:125819813-125819814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531969745	chr7:125819820-125819821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111521503	chr7:125819831-125819832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529465797	chr7:125819864-125819865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111896084	chr7:125819916-125819917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192963653	chr7:125819917-125819918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376999499	chr7:125819930-125819931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370541886	chr7:125819949-125819950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554328971	chr7:125819971-125819972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113004522	chr7:125819976-125819977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569880571	chr7:125820070-125820071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17149388	chr7:125820118-125820119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184247490	chr7:125820157-125820158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10224942	chr7:125820172-125820173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188595247	chr7:125820190-125820191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560003232	chr7:125820210-125820211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181047837	chr7:125820246-125820247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553542926	chr7:125820259-125820260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528822995	chr7:125820261-125820262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374328827	chr7:125820289-125820290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574969124	chr7:125820290-125820291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542468649	chr7:125820311-125820312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563892495	chr7:125820343-125820344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142481440	chr7:125820389-125820390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183624482	chr7:125820391-125820392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182623731	chr7:125825608-125825609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559793	chr7:125825630-125825631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs146024071	chr7:125825662-125825663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs604505	chr7:125825667-125825668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559134671	chr7:125825683-125825684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138719433	chr7:125825809-125825810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187727712	chr7:125825842-125825843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs684665	chr7:125825851-125825852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125817400-125820400	Enhancers	Liver	Liver
2	chr7:125825600-125826400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:125825600-125826800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:125825800-125826600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:125825800-125826800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:125825800-125826800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:125825800-125826800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:125825800-125826800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:125826000-125826600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:125826200-125826800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:125826200-125826800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:125850600-125850800	Enhancers	GM12878-XiMat	blood
13	chr7:125850800-125851200	Flanking Active TSS	GM12878-XiMat	blood
14	chr7:125850800-125851800	Enhancers	HMEC	breast
15	chr7:125851000-125851200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:125851200-125852200	Enhancers	GM12878-XiMat	blood
17	chr7:125851200-125852400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:125851400-125854000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:125851800-125853400	Weak transcription	HMEC	breast
20	chr7:125852400-125854600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:125853400-125854400	Enhancers	HMEC	breast
22	chr7:125853800-125854600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:125858800-125859000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:125859000-125863800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:125863800-125864000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:125868000-125869000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:125868000-125869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:125868000-125869600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:125868400-125868800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:125868400-125869400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:125871600-125871800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:125893800-125894000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:125893800-125894000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:125901800-125902200	Active TSS	GM12878-XiMat	blood
35	chr7:125904800-125905200	Enhancers	Spleen	Spleen
36	chr7:125905200-125905600	Active TSS	Spleen	Spleen
37	chr7:125915200-125916000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:125963800-125964000	Enhancers	Left Ventricle	heart
39	chr7:125966400-125967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:125967000-125967400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:125999200-125999600	Enhancers	Pancreas	Pancrea
42	chr7:126001200-126001600	Enhancers	HUES48 Cell Line	embryonic stem cell

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