Variant report

Variant	esv5344
Chromosome Location	chr7:127214921-127218070
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:0)
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	chr7:127217600..127219465-chr7:127231455..127234407,2	MCF-7	breast:
2	7:127009457-127018926..7:127216013-127221502	GM12878	blood:
3	chr7:127187757..127189501-chr7:127214982..127217423,2	K562	blood:
4	chr7:127205094..127207792-chr7:127216829..127219729,3	MCF-7	breast:
5	chr7:127201455..127203783-chr7:127214712..127216389,2	MCF-7	breast:
6	chr7:127215881..127217401-chr7:127234482..127236541,2	K562	blood:
7	chr7:127214790..127217568-chr7:127290797..127292847,2	MCF-7	breast:
8	chr7:127031260..127033206-chr7:127217303..127220181,2	MCF-7	breast:
9	chr7:127138726..127141408-chr7:127217522..127219052,2	K562	blood:
10	chr7:127193758..127196335-chr7:127214904..127216660,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000048405	chromatin interactions
ENSG00000240790	chromatin interactions
ENSG00000179562	chromatin interactions
ENSG00000197157	chromatin interactions
ENSG00000106328	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574511824	chr7:127214969-127214970	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs202106721	chr7:127214970-127214971	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181915777	chr7:127214971-127214972	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs79492875	chr7:127215059-127215060	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184693382	chr7:127215095-127215096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs10242302	chr7:127215136-127215137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10271482	chr7:127215151-127215152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539778944	chr7:127215191-127215192	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557708659	chr7:127215204-127215205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566573349	chr7:127215217-127215218	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189020430	chr7:127215256-127215257	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555403381	chr7:127215275-127215276	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574084911	chr7:127215332-127215333	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535268642	chr7:127215334-127215335	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181522847	chr7:127215362-127215363	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186466901	chr7:127215411-127215412	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546145264	chr7:127215413-127215414	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564064482	chr7:127215430-127215431	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs576991750	chr7:127215595-127215596	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117655618	chr7:127215598-127215599	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575008308	chr7:127215600-127215601	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561580398	chr7:127215607-127215608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529001434	chr7:127215616-127215617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs77492940	chr7:127215668-127215669	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146337107	chr7:127215669-127215670	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs10261150	chr7:127215681-127215682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs78893918	chr7:127215687-127215688	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533443097	chr7:127215698-127215699	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139605143	chr7:127215718-127215719	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10246003	chr7:127215754-127215755	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559684937	chr7:127215818-127215819	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541205193	chr7:127215823-127215824	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs144215759	chr7:127215874-127215875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs144230981	chr7:127215901-127215902	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567617892	chr7:127215939-127215940	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs538368632	chr7:127215952-127215953	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs148400398	chr7:127215999-127216000	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs559406796	chr7:127216068-127216069	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs191296640	chr7:127216103-127216104	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs369591822	chr7:127216142-127216143	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs556853645	chr7:127216215-127216216	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs200205470	chr7:127216223-127216224	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs575553297	chr7:127216235-127216236	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs201368027	chr7:127216250-127216251	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs574651509	chr7:127216277-127216278	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs112055497	chr7:127216280-127216281	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs148807550	chr7:127216291-127216292	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs535498509	chr7:127216336-127216337	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs540204769	chr7:127216342-127216343	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs561759185	chr7:127216344-127216345	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	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:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127200600-127221400	Weak transcription	Pancreas	Pancrea
2	chr7:127203400-127220400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:127203600-127218400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:127203600-127221400	Weak transcription	Left Ventricle	heart
5	chr7:127203800-127218400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:127204400-127217000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:127204400-127221000	Weak transcription	Aorta	Aorta
8	chr7:127204800-127219800	Weak transcription	Liver	Liver
9	chr7:127205400-127217000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:127205400-127218200	Weak transcription	Lung	lung
11	chr7:127207800-127215200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:127208800-127218000	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:127208800-127221000	Weak transcription	Brain Anterior Caudate	brain
14	chr7:127209600-127218400	Weak transcription	Right Atrium	heart
15	chr7:127209600-127221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:127209800-127218000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:127210200-127221600	Weak transcription	Small Intestine	intestine
18	chr7:127210400-127218000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:127210400-127218200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:127210400-127219600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:127210400-127221000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:127210600-127217600	Weak transcription	Fetal Thymus	thymus
23	chr7:127210600-127218000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:127210600-127221000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:127211000-127219000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:127211200-127219000	Weak transcription	HSMM	muscle
27	chr7:127211400-127218400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:127212200-127218000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:127212200-127219000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:127212400-127218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:127212400-127218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:127212400-127218200	Weak transcription	HSMMtube	muscle
33	chr7:127212600-127218600	Weak transcription	NHDF-Ad	bronchial
34	chr7:127212600-127219000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:127212600-127219800	Weak transcription	Brain Substantia Nigra	brain
36	chr7:127212800-127218200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:127212800-127219200	Weak transcription	NHEK	skin
38	chr7:127212800-127221400	Weak transcription	Spleen	Spleen
39	chr7:127213000-127218000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:127213000-127218000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:127213000-127218600	Weak transcription	NHLF	lung
42	chr7:127213000-127221200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:127213200-127218000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:127213200-127218400	Weak transcription	Thymus	Thymus
45	chr7:127213400-127215000	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:127213400-127215000	Weak transcription	Fetal Stomach	stomach
47	chr7:127213400-127218400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:127213400-127219000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:127213400-127220800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:127213400-127221000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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