Variant report

Variant	esv3347742
Chromosome Location	chr7:127619466-127621464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127620242..127621934-chr7:127625720..127627385,2	K562	blood:
2	chr7:127614080..127617711-chr7:127619804..127624160,5	K562	blood:
3	chr7:127621460..127624086-chr7:127655580..127657464,2	MCF-7	breast:
4	chr7:127613474..127616257-chr7:127619787..127621478,2	K562	blood:
5	chr7:127621276..127623489-chr7:127624505..127626499,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572541752	chr7:127619482-127619483	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1193337	chr7:127619502-127619503	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574068838	chr7:127619525-127619526	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531188973	chr7:127619564-127619565	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190993378	chr7:127619577-127619578	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530696655	chr7:127619603-127619604	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs546135353	chr7:127619640-127619641	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564333774	chr7:127619644-127619645	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369395790	chr7:127619694-127619695	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539809278	chr7:127619707-127619708	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568105795	chr7:127619861-127619862	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs6969827	chr7:127620033-127620034	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184084178	chr7:127620060-127620061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1075428	chr7:127620089-127620090	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188969988	chr7:127620115-127620116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202207582	chr7:127620166-127620167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200496270	chr7:127620167-127620168	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373171380	chr7:127620197-127620198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555863231	chr7:127620333-127620334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539601304	chr7:127620415-127620416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376374365	chr7:127620424-127620425	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370986879	chr7:127620425-127620426	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566819550	chr7:127620470-127620471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533971551	chr7:127620471-127620472	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200776555	chr7:127620472-127620473	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191727051	chr7:127620496-127620497	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374741214	chr7:127620530-127620531	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550596873	chr7:127620554-127620555	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544715509	chr7:127620589-127620590	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556350125	chr7:127620609-127620610	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148347156	chr7:127620642-127620643	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74430835	chr7:127620686-127620687	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183740409	chr7:127620864-127620865	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113821760	chr7:127620926-127620927	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3214415	chr7:127620973-127620974	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397839953	chr7:127620978-127620979	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200166050	chr7:127620979-127620980	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531611806	chr7:127620994-127620995	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561742785	chr7:127620998-127620999	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528847516	chr7:127621006-127621007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79280278	chr7:127621058-127621059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568563845	chr7:127621100-127621101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533393455	chr7:127621170-127621171	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141226185	chr7:127621173-127621174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566441884	chr7:127621195-127621196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535053977	chr7:127621231-127621232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376981200	chr7:127621274-127621275	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538867072	chr7:127621289-127621290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187423940	chr7:127621321-127621322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75043088	chr7:127621324-127621325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Myxofibrosarcoma	20639860	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
3	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
5	chr7:127603000-127627000	Weak transcription	Aorta	Aorta
6	chr7:127607400-127624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:127607800-127626800	Weak transcription	Ovary	ovary
8	chr7:127609200-127630800	Weak transcription	NH-A	brain
9	chr7:127609400-127623400	Weak transcription	Pancreas	Pancrea
10	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
11	chr7:127613600-127619800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:127613800-127623400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:127614000-127631000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:127614400-127630600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:127615600-127619600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:127615800-127625000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:127616200-127619800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr7:127616200-127623800	Weak transcription	HSMMtube	muscle
19	chr7:127616200-127624600	Weak transcription	Right Ventricle	heart
20	chr7:127616400-127619600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
21	chr7:127616400-127619600	Strong transcription	HepG2	liver
22	chr7:127616400-127624800	Weak transcription	Left Ventricle	heart
23	chr7:127616800-127619600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr7:127616800-127619600	ZNF genes & repeats	GM12878-XiMat	blood
25	chr7:127616800-127620000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:127616800-127625000	Weak transcription	Lung	lung
27	chr7:127617000-127619600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:127617000-127619600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr7:127617000-127623200	Weak transcription	Fetal Heart	heart
30	chr7:127617000-127628800	Weak transcription	Spleen	Spleen
31	chr7:127617200-127619600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr7:127617200-127621400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:127617200-127623200	Weak transcription	Gastric	stomach
34	chr7:127617200-127623800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:127617200-127625200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:127617200-127625800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:127617200-127627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:127617200-127628400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:127617200-127630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:127617200-127631000	Weak transcription	Esophagus	oesophagus
41	chr7:127617400-127619600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:127617400-127626000	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:127617400-127626600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:127617400-127626800	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:127617400-127627400	Weak transcription	Fetal Brain Male	brain
46	chr7:127617600-127626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:127617600-127627200	Weak transcription	Brain Anterior Caudate	brain
48	chr7:127617600-127640600	Weak transcription	Brain Germinal Matrix	brain
49	chr7:127617800-127619600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr7:127617800-127619600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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