Variant report

Variant	nsv970606
Chromosome Location	chr7:150179372-150181886
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	chr7:150172387..150174291-chr7:150178480..150181498,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP6-5	chr7:150181149-150182223	NONHSAT124141

Extended variants
information (count: 112 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78709556	chr7:150179375-150179376	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567347733	chr7:150179398-150179399	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536075218	chr7:150179399-150179400	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546404455	chr7:150179400-150179401	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs565807404	chr7:150179441-150179442	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs73729147	chr7:150179540-150179541	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371354396	chr7:150179571-150179572	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs557823880	chr7:150179581-150179582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs578000064	chr7:150179605-150179606	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548065673	chr7:150179612-150179613	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530705495	chr7:150179630-150179631	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151163563	chr7:150179631-150179632	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112284605	chr7:150179633-150179634	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186613439	chr7:150179655-150179656	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374085997	chr7:150179657-150179658	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543212178	chr7:150179672-150179673	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560013804	chr7:150179681-150179682	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7783564	chr7:150179698-150179699	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552134309	chr7:150179720-150179721	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12386712	chr7:150179757-150179758	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564718262	chr7:150179759-150179760	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530575470	chr7:150179787-150179788	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189883705	chr7:150179844-150179845	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561201115	chr7:150179848-150179849	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540899369	chr7:150179886-150179887	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564149539	chr7:150179901-150179902	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542903483	chr7:150179902-150179903	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34348006	chr7:150179903-150179904	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56190357	chr7:150179907-150179908	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55961712	chr7:150179915-150179916	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569797959	chr7:150179928-150179929	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139253059	chr7:150179943-150179944	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111389637	chr7:150180009-150180010	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6955517	chr7:150180018-150180019	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551895800	chr7:150180050-150180051	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530639504	chr7:150180079-150180080	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113010179	chr7:150180084-150180085	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182366414	chr7:150180126-150180127	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377755419	chr7:150180160-150180161	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6968806	chr7:150180194-150180195	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536952436	chr7:150180205-150180206	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553563409	chr7:150180253-150180254	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187036616	chr7:150180259-150180260	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546638901	chr7:150180263-150180264	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111268932	chr7:150180264-150180265	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs558649511	chr7:150180267-150180268	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147248076	chr7:150180331-150180332	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114779815	chr7:150180332-150180333	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560551660	chr7:150180364-150180365	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77560723	chr7:150180440-150180441	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150175200-150180400	Enhancers	Adipose Nuclei	Adipose
2	chr7:150176000-150180000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr7:150176600-150179400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:150176600-150180400	Enhancers	Fetal Thymus	thymus
5	chr7:150176800-150179600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:150176800-150180200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:150176800-150180400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:150177000-150180200	Weak transcription	Liver	Liver
9	chr7:150177200-150180400	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:150177200-150180800	Enhancers	Primary B cells from cord blood	blood
11	chr7:150177400-150179400	Enhancers	Spleen	Spleen
12	chr7:150177400-150179400	Enhancers	Dnd41	blood
13	chr7:150177400-150179600	Enhancers	Duodenum Mucosa	Duodenum
14	chr7:150177400-150181400	Weak transcription	NHEK	skin
15	chr7:150177400-150181800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:150177600-150180400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:150177600-150181000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:150177800-150180400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:150178000-150179400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr7:150178000-150179400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:150178000-150179600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr7:150178000-150182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:150178200-150179400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr7:150178200-150180200	Enhancers	Thymus	Thymus
25	chr7:150178400-150180200	Enhancers	HUVEC	blood vessel
26	chr7:150178400-150181200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr7:150178600-150179400	Enhancers	Left Ventricle	heart
28	chr7:150178600-150179400	Enhancers	Right Atrium	heart
29	chr7:150178600-150179400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:150178600-150179400	Enhancers	GM12878-XiMat	blood
31	chr7:150178600-150179600	Enhancers	Placenta	Placenta
32	chr7:150178600-150179600	Enhancers	Lung	lung
33	chr7:150178800-150180000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:150178800-150180200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:150178800-150180200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr7:150178800-150180800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr7:150179000-150179400	Enhancers	Esophagus	oesophagus
38	chr7:150179000-150179400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:150179000-150180800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:150179000-150181000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr7:150179000-150181400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:150179200-150179400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:150179200-150179400	Enhancers	Brain Hippocampus Middle	brain
44	chr7:150179200-150179600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr7:150179200-150180200	Enhancers	Fetal Muscle Leg	muscle
46	chr7:150179200-150180800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:150179400-150179600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:150179400-150179600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
49	chr7:150179400-150179600	Flanking Active TSS	Dnd41	blood
50	chr7:150179400-150180000	Enhancers	Primary T cells from cord blood	blood

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