Variant report

Variant	esv1850711
Chromosome Location	chr7:127203830-127217590
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127204431..127206594-chr7:127219494..127222300,2	MCF-7	breast:
2	chr7:127205094..127207792-chr7:127216829..127219729,3	MCF-7	breast:
3	chr7:127206510..127209249-chr7:127211891..127214680,3	K562	blood:
4	chr7:127210811..127213532-chr7:127222493..127224995,2	K562	blood:
5	chr7:127206691..127209141-chr7:127211542..127214065,2	K562	blood:
6	chr7:127194216..127195993-chr7:127204980..127207144,2	K562	blood:
7	chr7:127187757..127189501-chr7:127214982..127217423,2	K562	blood:
8	chr7:127206510..127209249-chr7:127211891..127214680,3	K562	blood:
9	chr7:127206691..127209141-chr7:127211542..127214065,2	K562	blood:
10	chr7:127214790..127217568-chr7:127290797..127292847,2	MCF-7	breast:
11	chr7:127203098..127205037-chr7:127222496..127224357,2	MCF-7	breast:
12	chr7:127193758..127196335-chr7:127214904..127216660,2	MCF-7	breast:
13	chr7:127201088..127203577-chr7:127205248..127208135,2	K562	blood:
14	chr7:127138726..127141408-chr7:127217522..127219052,2	K562	blood:
15	chr7:127215881..127217401-chr7:127234482..127236541,2	K562	blood:
16	chr7:127205094..127207792-chr7:127216829..127219729,3	MCF-7	breast:
17	chr7:127201455..127203783-chr7:127214712..127216389,2	MCF-7	breast:
18	chr7:127114890..127116879-chr7:127201699..127204076,2	K562	blood:
19	7:127009457-127018926..7:127216013-127221502	GM12878	blood:
20	chr7:127031260..127033206-chr7:127217303..127220181,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000048405	chromatin interactions
ENSG00000240790	chromatin interactions
ENSG00000106328	chromatin interactions
ENSG00000197157	chromatin interactions

Extended variants
information (count: 504 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6977152	chr7:127203830-127203831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140981675	chr7:127203836-127203837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567459343	chr7:127203837-127203838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35049580	chr7:127203884-127203885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537998297	chr7:127203944-127203945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370347604	chr7:127203958-127203959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531517821	chr7:127204041-127204042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10954160	chr7:127204065-127204066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs149779776	chr7:127204078-127204079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538938347	chr7:127204089-127204090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553471841	chr7:127204098-127204099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537148819	chr7:127204107-127204108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146786311	chr7:127204120-127204121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542309909	chr7:127204221-127204222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140467048	chr7:127204222-127204223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548934184	chr7:127204235-127204236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145896836	chr7:127204237-127204238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565492729	chr7:127204260-127204261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189961855	chr7:127204274-127204275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567348487	chr7:127204277-127204278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548100090	chr7:127204289-127204290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559486472	chr7:127204299-127204300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530159253	chr7:127204309-127204310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191833511	chr7:127204333-127204334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4424203	chr7:127204379-127204380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73459102	chr7:127204402-127204403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537564325	chr7:127204472-127204473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183908065	chr7:127204494-127204495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571453682	chr7:127204497-127204498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538532372	chr7:127204573-127204574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554080423	chr7:127204619-127204620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10280804	chr7:127204638-127204639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535803287	chr7:127204642-127204643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34266585	chr7:127204646-127204647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554167830	chr7:127204659-127204660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575701533	chr7:127204687-127204688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144389381	chr7:127204721-127204722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34682754	chr7:127204724-127204725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55657491	chr7:127204735-127204736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188403762	chr7:127204737-127204738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7350019	chr7:127204749-127204750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577414338	chr7:127204790-127204791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180869009	chr7:127204804-127204805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10281056	chr7:127204844-127204845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs55791028	chr7:127204881-127204882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185755574	chr7:127204891-127204892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563688508	chr7:127204946-127204947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557731116	chr7:127204982-127204983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190813583	chr7:127204984-127204985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552666875	chr7:127204995-127204996	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:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127200600-127221400	Weak transcription	Pancreas	Pancrea
2	chr7:127203200-127214000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:127203200-127214200	Weak transcription	Primary T cells from cord blood	blood
4	chr7:127203400-127220400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:127203600-127211800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:127203600-127218400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:127203600-127221400	Weak transcription	Left Ventricle	heart
8	chr7:127203800-127218400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:127204400-127217000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:127204400-127221000	Weak transcription	Aorta	Aorta
11	chr7:127204800-127219800	Weak transcription	Liver	Liver
12	chr7:127205200-127205400	Enhancers	Lung	lung
13	chr7:127205400-127217000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:127205400-127218200	Weak transcription	Lung	lung
15	chr7:127207000-127211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:127207400-127214200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:127207800-127214600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:127207800-127215200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:127208000-127209400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:127208600-127214600	Weak transcription	Gastric	stomach
21	chr7:127208800-127218000	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:127208800-127221000	Weak transcription	Brain Anterior Caudate	brain
23	chr7:127209600-127218400	Weak transcription	Right Atrium	heart
24	chr7:127209600-127221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:127209800-127218000	Weak transcription	Primary B cells from cord blood	blood
26	chr7:127210200-127221600	Weak transcription	Small Intestine	intestine
27	chr7:127210400-127218000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:127210400-127218200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:127210400-127219600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:127210400-127221000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:127210600-127214800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:127210600-127217600	Weak transcription	Fetal Thymus	thymus
33	chr7:127210600-127218000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:127210600-127221000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:127210800-127214600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:127211000-127214000	Weak transcription	Fetal Brain Female	brain
37	chr7:127211000-127219000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:127211200-127219000	Weak transcription	HSMM	muscle
39	chr7:127211400-127212400	Enhancers	HSMMtube	muscle
40	chr7:127211400-127214600	Weak transcription	Fetal Intestine Small	intestine
41	chr7:127211400-127218400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:127211800-127212400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:127211800-127212400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:127212000-127212200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr7:127212000-127212200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:127212200-127213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:127212200-127218000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:127212200-127219000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:127212400-127212600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:127212400-127214600	Weak transcription	Placenta	Placenta

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