Variant report

Variant	esv3409838
Chromosome Location	chr7:64280050-64283189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64254758..64256776-chr7:64281232..64283063,2	K562	blood:
2	chr7:64279288..64281890-chr7:64330728..64333197,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF138-2	chr7:64280598-64280701	NONHSAT121040

Variant related genes	Relation type
ENSG00000197008	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201608961	chr7:64280056-64280057	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566675656	chr7:64280064-64280065	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs68169641	chr7:64280118-64280119	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201509976	chr7:64280120-64280121	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs199738305	chr7:64280121-64280122	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200677116	chr7:64280122-64280123	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536787083	chr7:64280123-64280124	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62456837	chr7:64280149-64280150	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551870261	chr7:64280213-64280214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568899714	chr7:64280235-64280236	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201250689	chr7:64280300-64280301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs563956695	chr7:64280322-64280323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188942463	chr7:64280409-64280410	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554743497	chr7:64280416-64280417	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139054569	chr7:64280428-64280429	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534130978	chr7:64280451-64280452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370524931	chr7:64280458-64280459	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370836510	chr7:64280460-64280461	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200623732	chr7:64280462-64280463	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201899782	chr7:64280463-64280464	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554415649	chr7:64280464-64280465	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149147117	chr7:64280468-64280469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs143999846	chr7:64280477-64280478	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200171522	chr7:64280485-64280486	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374207327	chr7:64280494-64280495	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371273851	chr7:64280512-64280513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs59411919	chr7:64280514-64280515	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372359692	chr7:64280515-64280516	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374422424	chr7:64280516-64280517	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs556138212	chr7:64280530-64280531	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs386713944	chr7:64280625-64280626	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs12155450	chr7:64280627-64280628	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146446529	chr7:64280632-64280633	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574548799	chr7:64280633-64280634	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs34143991	chr7:64280666-64280667	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs574271225	chr7:64280667-64280668	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs181551030	chr7:64280670-64280671	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs560328871	chr7:64280683-64280684	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs532282843	chr7:64280779-64280780	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs552551057	chr7:64280783-64280784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs79982422	chr7:64280827-64280828	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74731852	chr7:64280836-64280837	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372758213	chr7:64280859-64280860	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568083142	chr7:64280861-64280862	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376001844	chr7:64280876-64280877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12154807	chr7:64280896-64280897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547655099	chr7:64280926-64280927	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116941524	chr7:64280966-64280967	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186473196	chr7:64281088-64281089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539737643	chr7:64281129-64281130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255800-64293200	Weak transcription	NH-A	brain
2	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
3	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
5	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
7	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:64257400-64283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:64260600-64286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:64260600-64288800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:64260600-64292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:64260800-64284000	Weak transcription	Left Ventricle	heart
14	chr7:64260800-64284400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:64260800-64286400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:64260800-64288600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:64260800-64291400	Weak transcription	Liver	Liver
18	chr7:64261000-64295400	Weak transcription	Osteobl	bone
19	chr7:64262800-64291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:64263400-64284000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:64265400-64286400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:64268600-64286200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:64268600-64296000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:64268800-64292200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:64268800-64293400	Weak transcription	Brain Angular Gyrus	brain
26	chr7:64269000-64286200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:64272400-64291200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:64272400-64292800	Weak transcription	Brain Anterior Caudate	brain
29	chr7:64272600-64286200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:64272600-64291200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:64272800-64283800	Weak transcription	Fetal Intestine Large	intestine
32	chr7:64272800-64284400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:64272800-64284400	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:64272800-64291800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:64272800-64295200	Weak transcription	Fetal Thymus	thymus
36	chr7:64273000-64283600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:64273000-64283800	Weak transcription	Fetal Lung	lung
38	chr7:64273000-64283800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:64273000-64284800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:64273000-64291200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:64273000-64292800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:64273200-64283200	Weak transcription	Brain Germinal Matrix	brain
43	chr7:64273200-64284000	Weak transcription	HSMMtube	muscle
44	chr7:64273200-64284400	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:64273200-64290600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:64273600-64280800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:64273600-64283800	Weak transcription	Adipose Nuclei	Adipose
49	chr7:64273600-64291400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:64273600-64292200	Weak transcription	Primary B cells from peripheral blood	blood

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