Variant report

Variant	esv1843940
Chromosome Location	chr7:103421702-103590285
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:131)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:131 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:103462200..103464202-chr7:103470870..103473590,2	K562	blood:
2	chr7:103564555..103566285-chr7:103650093..103652730,2	K562	blood:
3	chr7:103438609..103440758-chr7:103446017..103447792,2	K562	blood:
4	chr7:103410814..103414279-chr7:103419372..103422608,3	K562	blood:
5	chr7:103500765..103502800-chr7:103508412..103510448,2	K562	blood:
6	chr7:103545125..103546646-chr7:103570304..103572979,2	K562	blood:
7	chr7:103556407..103559071-chr7:103628860..103631394,2	K562	blood:
8	chr7:103501321..103503199-chr7:103503992..103506371,2	K562	blood:
9	chr7:103580049..103581812-chr7:103595341..103598301,2	K562	blood:
10	chr7:103414281..103416432-chr7:103424454..103426035,2	K562	blood:
11	chr7:103545125..103546646-chr7:103570304..103572979,2	K562	blood:
12	chr7:103510796..103513502-chr7:103565026..103567236,2	K562	blood:
13	chr7:103484299..103485806-chr7:103503247..103505483,2	K562	blood:
14	chr7:103553214..103555201-chr7:103575018..103577622,2	K562	blood:
15	chr7:103491384..103494332-chr7:103503727..103505342,2	K562	blood:
16	chr7:103458610..103460709-chr7:103463601..103466082,3	K562	blood:
17	chr7:103537933..103539744-chr7:103542239..103544232,2	K562	blood:
18	chr7:103517969..103520327-chr7:103557139..103559343,2	K562	blood:
19	chr7:103538244..103539746-chr7:103542732..103544465,2	K562	blood:
20	chr7:103558897..103560553-chr7:103751201..103753362,2	K562	blood:
21	chr7:103559740..103561344-chr7:103627840..103629599,2	K562	blood:
22	chr7:103423396..103425978-chr7:103435870..103438560,2	K562	blood:
23	chr7:103442421..103443972-chr7:103446334..103447900,2	K562	blood:
24	chr7:103530018..103531545-chr7:103533351..103536127,2	K562	blood:
25	chr7:103476850..103479647-chr7:103481837..103483342,2	K562	blood:
26	chr7:103527274..103529978-chr7:103557277..103559784,3	K562	blood:
27	chr7:103453840..103455348-chr7:103457770..103460574,2	K562	blood:
28	chr7:103442421..103443972-chr7:103446334..103447900,2	K562	blood:
29	chr7:103562037..103563757-chr7:103575522..103577344,2	K562	blood:
30	chr7:103558397..103560497-chr7:103570377..103574513,3	K562	blood:
31	chr7:103567609..103572378-chr7:103572884..103577140,9	K562	blood:
32	chr7:103528310..103530000-chr7:103532562..103534288,2	K562	blood:
33	chr7:103575744..103578480-chr7:103589685..103593226,3	K562	blood:
34	chr7:103586398..103587926-chr7:103605235..103608069,2	K562	blood:
35	chr7:103562037..103563757-chr7:103575522..103577344,2	K562	blood:
36	chr7:103476850..103479647-chr7:103481837..103483342,2	K562	blood:
37	chr7:103590222..103593297-chr7:103593360..103596910,6	K562	blood:
38	chr7:103500765..103502800-chr7:103508412..103510448,2	K562	blood:
39	chr7:103444260..103446283-chr7:103446880..103450236,3	K562	blood:
40	chr7:103496481..103498750-chr7:103510746..103512273,2	K562	blood:
41	chr7:103510796..103513502-chr7:103565026..103567236,2	K562	blood:
42	chr7:103514830..103517778-chr7:103519568..103522214,2	K562	blood:
43	chr7:103458610..103460709-chr7:103463601..103466082,3	K562	blood:
44	chr7:103501321..103503199-chr7:103503992..103506371,2	K562	blood:
45	chr7:103507537..103509850-chr7:103630768..103632439,2	K562	blood:
46	chr7:103483125..103487990-chr7:103488030..103491308,6	K562	blood:
47	chr7:103559189..103561458-chr7:103602442..103604552,3	K562	blood:
48	chr7:103455999..103458668-chr7:103467643..103469823,2	K562	blood:
49	chr7:103506208..103509003-chr7:103526109..103528413,2	K562	blood:
50	chr7:103557671..103561484-chr7:103568838..103571877,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189056	chromatin interactions
ENSG00000252064	chromatin interactions

Extended variants
information (count: 7138 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:7138 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1510846	chr7:103421702-103421703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574499848	chr7:103421708-103421709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144681364	chr7:103421710-103421711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566018927	chr7:103421742-103421743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148501331	chr7:103421750-103421751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548200673	chr7:103421773-103421774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192283307	chr7:103421802-103421803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73412894	chr7:103421805-103421806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs79653536	chr7:103421816-103421817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372698777	chr7:103421818-103421819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117259762	chr7:103421832-103421833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10255733	chr7:103421861-103421862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551710708	chr7:103421866-103421867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377551870	chr7:103421870-103421871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs262352	chr7:103421887-103421888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145681600	chr7:103421889-103421890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542097196	chr7:103421906-103421907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564251935	chr7:103421943-103421944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556689919	chr7:103422007-103422008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111650350	chr7:103422015-103422016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545629096	chr7:103422020-103422021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564189001	chr7:103422064-103422065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531440092	chr7:103422072-103422073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141000869	chr7:103422081-103422082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541243958	chr7:103422148-103422149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559494302	chr7:103422160-103422161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76556198	chr7:103422189-103422190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556536130	chr7:103422204-103422205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548433873	chr7:103422211-103422212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113961263	chr7:103422269-103422270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530912206	chr7:103422270-103422271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552424640	chr7:103422275-103422276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570938441	chr7:103422277-103422278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144873613	chr7:103422307-103422308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3819484	chr7:103422330-103422331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562793944	chr7:103422350-103422351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568218669	chr7:103422367-103422368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552735534	chr7:103422372-103422373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557221407	chr7:103422382-103422383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575162674	chr7:103422436-103422437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386716370	chr7:103422479-103422480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs745539	chr7:103422542-103422543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572626183	chr7:103422620-103422621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17369701	chr7:103422623-103422624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559531053	chr7:103422625-103422626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574683059	chr7:103422632-103422633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs745540	chr7:103422641-103422642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs745541	chr7:103422656-103422657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs531075719	chr7:103422685-103422686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151298281	chr7:103422692-103422693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103390000-103434000	Weak transcription	K562	blood
2	chr7:103406000-103433600	Weak transcription	HepG2	liver
3	chr7:103423000-103424000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:103424000-103425400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:103425400-103426400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:103425600-103426400	Enhancers	Fetal Kidney	kidney
7	chr7:103433600-103437000	Enhancers	HepG2	liver
8	chr7:103434000-103435200	Enhancers	K562	blood
9	chr7:103434800-103436800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:103434800-103438800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:103435200-103435600	Weak transcription	K562	blood
12	chr7:103435600-103435800	Enhancers	K562	blood
13	chr7:103435800-103440000	Weak transcription	K562	blood
14	chr7:103436000-103436600	Enhancers	NHDF-Ad	bronchial
15	chr7:103436000-103436800	Enhancers	Brain Germinal Matrix	brain
16	chr7:103436800-103437800	Weak transcription	Brain Germinal Matrix	brain
17	chr7:103436800-103438000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:103437000-103446000	Weak transcription	HepG2	liver
19	chr7:103437800-103438800	Enhancers	Brain Germinal Matrix	brain
20	chr7:103438000-103439000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:103439000-103444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:103440000-103440400	Enhancers	K562	blood
23	chr7:103440400-103449400	Weak transcription	K562	blood
24	chr7:103444200-103446800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:103445000-103445600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:103445600-103446000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:103445600-103446200	Enhancers	NHDF-Ad	bronchial
28	chr7:103446000-103446800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:103446000-103447600	Strong transcription	HepG2	liver
30	chr7:103446200-103452000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:103447600-103449400	Weak transcription	HepG2	liver
32	chr7:103449200-103451000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:103449200-103451200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:103449200-103451200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:103449200-103451200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:103449200-103451200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:103449400-103450200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:103449400-103450200	Genic enhancers	HepG2	liver
39	chr7:103449400-103450200	Enhancers	K562	blood
40	chr7:103449400-103450400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:103449600-103451000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:103449800-103450000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:103449800-103451200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:103450000-103450200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:103450000-103450200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr7:103450000-103450600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:103450000-103452200	Enhancers	Liver	Liver
48	chr7:103450200-103450400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:103450200-103450400	Enhancers	HepG2	liver
50	chr7:103450200-103450800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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