Variant report

Variant	esv1801682
Chromosome Location	chr7:127188972-127209982
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127206510..127209249-chr7:127211891..127214680,3	K562	blood:
2	chr7:127201088..127203577-chr7:127205248..127208135,2	K562	blood:
3	chr7:127194216..127195993-chr7:127204980..127207144,2	K562	blood:
4	chr7:127194216..127195993-chr7:127204980..127207144,2	K562	blood:
5	chr7:127197223..127198513-chr7:127849514..127850452,5	MCF-7	breast:
6	chr7:127200505..127203389-chr7:127219797..127221382,2	K562	blood:
7	chr7:127197229..127198143-chr7:127849799..127850468,2	K562	blood:
8	chr7:127205094..127207792-chr7:127216829..127219729,3	MCF-7	breast:
9	chr7:127182140..127184340-chr7:127189505..127191044,2	K562	blood:
10	chr7:127201088..127203577-chr7:127205248..127208135,2	K562	blood:
11	chr7:127193697..127196034-chr7:127222065..127224629,3	K562	blood:
12	chr7:127187757..127189501-chr7:127214982..127217423,2	K562	blood:
13	chr7:127201455..127203783-chr7:127214712..127216389,2	MCF-7	breast:
14	chr7:127114890..127116879-chr7:127201699..127204076,2	K562	blood:
15	chr7:127204431..127206594-chr7:127219494..127222300,2	MCF-7	breast:
16	chr7:127203098..127205037-chr7:127222496..127224357,2	MCF-7	breast:
17	chr7:127176220..127178504-chr7:127190769..127192597,2	K562	blood:
18	chr7:127193758..127196335-chr7:127214904..127216660,2	MCF-7	breast:
19	chr7:127206691..127209141-chr7:127211542..127214065,2	K562	blood:

No data

Extended variants
information (count: 780 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:780 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561737946	chr7:127188981-127188982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577885127	chr7:127189054-127189055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545318606	chr7:127189080-127189081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553706080	chr7:127189092-127189093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572146660	chr7:127189151-127189152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542707061	chr7:127189152-127189153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149108032	chr7:127189195-127189196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561458719	chr7:127189240-127189241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28463835	chr7:127189262-127189263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371161006	chr7:127189306-127189307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35443114	chr7:127189309-127189310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544360245	chr7:127189313-127189314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562563304	chr7:127189356-127189357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28408290	chr7:127189380-127189381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180921931	chr7:127189400-127189401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35032751	chr7:127189414-127189415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527329596	chr7:127189459-127189460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151192747	chr7:127189469-127189470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567391547	chr7:127189470-127189471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11449859	chr7:127189482-127189483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78121687	chr7:127189483-127189484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537563033	chr7:127189484-127189485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78874689	chr7:127189490-127189491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550323037	chr7:127189500-127189501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571512094	chr7:127189519-127189520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4728072	chr7:127189602-127189603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs554088188	chr7:127189603-127189604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34360443	chr7:127189651-127189652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185933946	chr7:127189656-127189657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536681321	chr7:127189662-127189663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543875939	chr7:127189723-127189724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554681710	chr7:127189732-127189733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576454222	chr7:127189735-127189736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543553908	chr7:127189768-127189769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562630539	chr7:127189794-127189795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111391749	chr7:127189819-127189820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545319377	chr7:127189855-127189856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190407060	chr7:127189891-127189892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566754916	chr7:127189908-127189909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527262209	chr7:127189910-127189911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548932489	chr7:127189914-127189915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560746217	chr7:127189915-127189916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386717656	chr7:127189944-127189945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531392757	chr7:127189949-127189950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577850349	chr7:127189950-127189951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182394304	chr7:127189957-127189958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186259490	chr7:127190000-127190001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115375071	chr7:127190051-127190052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547667171	chr7:127190092-127190093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565995883	chr7:127190130-127190131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	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
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127186600-127200400	Weak transcription	Pancreas	Pancrea
2	chr7:127188000-127192600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:127191600-127192400	Enhancers	Placenta	Placenta
4	chr7:127192200-127192400	Enhancers	Spleen	Spleen
5	chr7:127200400-127200600	ZNF genes & repeats	Pancreas	Pancrea
6	chr7:127200600-127221400	Weak transcription	Pancreas	Pancrea
7	chr7:127203200-127203400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
8	chr7:127203200-127214000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:127203200-127214200	Weak transcription	Primary T cells from cord blood	blood
10	chr7:127203400-127220400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:127203600-127211800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:127203600-127218400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:127203600-127221400	Weak transcription	Left Ventricle	heart
14	chr7:127203800-127218400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:127204400-127217000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:127204400-127221000	Weak transcription	Aorta	Aorta
17	chr7:127204800-127219800	Weak transcription	Liver	Liver
18	chr7:127205200-127205400	Enhancers	Lung	lung
19	chr7:127205400-127217000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:127205400-127218200	Weak transcription	Lung	lung
21	chr7:127207000-127211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:127207400-127214200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:127207800-127214600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:127207800-127215200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:127208000-127209400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:127208600-127214600	Weak transcription	Gastric	stomach
27	chr7:127208800-127218000	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:127208800-127221000	Weak transcription	Brain Anterior Caudate	brain
29	chr7:127209600-127218400	Weak transcription	Right Atrium	heart
30	chr7:127209600-127221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:127209800-127218000	Weak transcription	Primary B cells from cord blood	blood

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